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INTRODUCTION: Venous thromboembolism (VTE) may be the first sign of an undiagnosed cancer. The RIETE and SOME scores aim to identify patients with acute VTE at high risk of occult cancer. In the present study, we evaluated the performance of both scores. METHODS: The scores were evaluated in a retrospective cohort from two centers. The area under the receiver-operating characteristics curve (AUC) evaluated the discriminatory performance. RESULTS: The RIETE score was applied to 815 patients with provoked and unprovoked VTE, of whom 56 (6.9%) were diagnosed with cancer. Of the 203 patients classified as high-risk, 18 were diagnosed with cancer, representing 32.1% (18/56) of the total cancer diagnoses. In the group of 612 low-risk patients, 67.9% of the cancer cases were diagnosed (38/56). Sensitivity, specificity, negative and positive predictive values, and AUC were 32%, 76%, 94%, 9%, and 0.430 (95% confidence interval [CI], 0.38â0.47), respectively. The SOME score could be calculated in 418 patients with unprovoked VTE, of whom 33 (7.9%) were diagnosed with cancer. Of the 45 patients classified as high-risk, three were diagnosed with cancer, representing 9.1% (3/33) of the total cancer diagnoses. In the group of 373 low-risk patients, 90.9% of the cancer cases were diagnosed (30/33). Sensitivity, specificity, negative and positive predictive values, and AUC were 33%, 88%, 94%, 20%, and 0.351 (95% CI, 0.27â0.43), respectively. CONCLUSIONS: The performance of both scores was poor. Our results highlight the need to develop new models to identify high-risk patients who may benefit from an extensive cancer screening strategy.
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Neoplasias , Tromboembolia Venosa , Humanos , Tromboembolia Venosa/etiología , Tromboembolia Venosa/diagnóstico , Tromboembolia Venosa/epidemiología , Femenino , Masculino , Estudios Retrospectivos , Persona de Mediana Edad , Anciano , Neoplasias/complicaciones , Neoplasias/epidemiología , Curva ROC , Medición de Riesgo/métodos , Área Bajo la Curva , Adulto , Neoplasias Primarias Desconocidas/complicaciones , Neoplasias Primarias Desconocidas/diagnóstico , Neoplasias Primarias Desconocidas/epidemiologíaRESUMEN
BACKGROUND: Cancer of unknown primary site (CUP) is a heterogeneous group of tumors for which the origin remains unknown. Clinical outcomes might be influenced by regulatory processes in its microenvironment. Microsatellite instability (MSI) is a predictive biomarker for cancer immunotherapy and its status, as well as co-occurrence with PD-L1 expression, is poorly evaluated. We aim to evaluate the expression of PD-L1 and the status of MSI in CUP and their possible associations with clinical-pathological features. METHODS: The combined positive score (CPS) PD-L1 expression was evaluated by immunohistochemistry. MSI status was assessed using a hexa-plex marker panel by polymerase chain reaction followed by fragment analysis. RESULTS: Among the 166 cases, MSI analysis was conclusive in 120, with two cases being MSI positive (1.6%). PD-L1 expression was positive in 18.3% of 109 feasible cases. PD-L1 expression was significantly associated with non-visceral metastasis and a dominance of nodal metastasis. The median overall survival (mOS) was 3.7 (95% CI 1.6-5.8) months and patients who expressed PD-L1 achieved a better mOS compared to those who did not express PD-L1 (18.7 versus 3.0 months, p-value: < .001). ECOG-PS equal to or more than two and PD-L1 expression were independent prognostic factors in multivariate analysis (2.37 and 0.42, respectively). CONCLUSION: PD-L1 is expressed in a subset (1/5) of patients with CUP and associated with improved overall survival, while MSI is a rare event. There is a need to explore better the tumor microenvironment as well as the role of immunotherapy to change such a bad clinical outcome.
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Antígeno B7-H1 , Inestabilidad de Microsatélites , Neoplasias Primarias Desconocidas , Humanos , Neoplasias Primarias Desconocidas/genética , Neoplasias Primarias Desconocidas/patología , Antígeno B7-H1/genética , Masculino , Femenino , Persona de Mediana Edad , Anciano , Adulto , Anciano de 80 o más Años , Biomarcadores de Tumor/genética , Pronóstico , Microambiente Tumoral , InmunohistoquímicaRESUMEN
INTRODUCTION: Cancer of unknown primary (CUP) is a challenging malignancy. The purpose of this study was to investigate the clinical characteristics and prognosis of bone metastatic CUP using the population-based Surveillance, Epidemiology, and End Results (SEER) database. METHODS: From the SEER database, we identified 1908 patients with bone metastatic CUP at initial presentation between 2010 and 2018. Histology was subdivided following International Classification of Diseases for Oncology codes as Adenocarcinoma, Squamous cell, Neuroendocrine, or Carcinoma not otherwise specified (NOS). Cox proportional hazard modeling was applied using factors of age, sex, ethnicity, histological subtype, and therapeutic intervention. RESULTS: Among the 1908 patients, histology was Neuroendocrine in 240 patients, Squamous cell in 201 patients, Adenocarcinoma in 810 patients and NOS in 657 patients. In each subtype, patients tended to be predominantly male and white. Chemotherapy was introduced for 28% of patients and radiation for 34% in the entire cohort. Survival in patients with bone metastatic CUP was unfavorable, with a median survival of 2 months. Among the histological subtypes, Adenocarcinoma showed shorter survival than the other groups. In addition, treatment interventions such as chemotherapy and radiation therapy prolonged survival, particularly for Squamous cell, Adenocarcinoma and NOS, but not for Neuroendocrine. DISCUSSION: Bone metastatic CUP showed extremely poor prognosis, but treatment interventions such as chemotherapy and radiation generally offered survival benefits. Further randomized clinical research is needed to confirm the present results.
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Adenocarcinoma , Neoplasias Óseas , Neoplasias Primarias Desconocidas , Humanos , Masculino , Femenino , Neoplasias Primarias Desconocidas/terapia , Neoplasias Primarias Desconocidas/patología , Pronóstico , Adenocarcinoma/terapia , Adenocarcinoma/patología , Neoplasias Óseas/patología , Estadificación de NeoplasiasRESUMEN
Background: Leptomeningeal metastasis is an infrequent form of cancer expression, and it has a poor prognosis due to its torpid evolution and its challenging diagnosis. Case report: We report the case of a 68-year-old woman with rapidly progressing cognitive decline and focal epilepsy. Brain magnetic resonance imaging showed extensive gyriform hypersignal in the right precentral sulcus region, without mass effect, tenuous contrast uptake, and hydrocephalus with transependymal edema. The body tomographic study was negative for solid cancer and the 18F-FDG PET-CT revealed a severe hypermetabolism in the right lung upper lobe. These findings were suggestive of lung cancer with leptomeningeal metastasis. We performed a brain biopsy, finding atypical cells in the leptomeningeal region with positive immunohistochemical staining for CK7 and negative for CK20 corresponding to lung adenocarcinoma. The patient was evaluated in the oncology service and scheduled for radiotherapy and chemotherapy. Conclusions: Focal leptomeningeal disease is an entity that should be considered as a differential diagnosis in all cases of focal leptomeningitis. Timely diagnosis and adequate cancer management can increase patient survival.
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Neoplasias Pulmonares , Neoplasias Meníngeas , Neoplasias Primarias Desconocidas , Anciano , Femenino , Fluorodesoxiglucosa F18 , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Meníngeas/diagnóstico por imagen , Neoplasias Primarias Desconocidas/diagnóstico , Tomografía Computarizada por Tomografía de Emisión de PositronesRESUMEN
Cancer of unknown primary site (CUP) is defined as a heterogeneous group of tumors that appear as metastases, and of which standard diagnostic work-up fails to identify the origin. It is considered a separate entity with a specific biology, and nowadays molecular characteristics and the determination of actionable mutations may be important in a significant group of patients. In this guide, we summarize the diagnostic, therapeutic, and possible new developments in molecular medicine that may help us in the management of this unique disease entity.
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Neoplasias Primarias Desconocidas , Humanos , Neoplasias Primarias Desconocidas/diagnóstico , Neoplasias Primarias Desconocidas/genética , Neoplasias Primarias Desconocidas/terapiaRESUMEN
This systematic review is the first to provide evidence regarding demographic, clinical, and imaging characteristics, as well as information related to survival, of patients with oral and maxillofacial metastases of occult primary tumors. Case reports, case series, and cross-sectional studies were included. Ten databases were searched. The risk of bias was assessed using the Joanna Briggs Institute appraisal tools. Overall, 353 articles (413 patients) were included. Statistically significant associations between survival and multiplicity of metastatic foci, and between each of the main primary sites and some features of the oral lesions were observed. Some clinical and imaging characteristics can help dentists in raising diagnostic suspicions and also in relating to plausible primary sites. Early diagnosis of oral and maxillofacial metastases can positively affect the survival rate when they are the only focus of dissemination, conferring an important role on the dentist.
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Neoplasias de la Boca , Neoplasias Primarias Desconocidas , Estudios Transversales , Humanos , Neoplasias de la Boca/terapia , Tasa de SupervivenciaRESUMEN
INTRODUCTION: The spine is the most frequent area of bone metastasis in patients with systemic neoplastic disease. The goal of its treatment is immediate decompression, in order to prevent deterioration or reverse the deficit in neurological functionOBJECTIVE: To analyze the characteristics of the scientific literature on the effectiveness of surgery associated with radiotherapy to improve the neurological deficit caused by metastatic spinal cord compressionMETHODS: Descriptive study based on bibliometric and scientometric methods. Using both, it is possible to qualify, verify and give meaning to the data and have, as a result, a broad study about the productions of the theme in question. Articles published in the National Library of Medicine (Pubmed), Web of Science and Virtual Health Library (VHL) were used, searched using keywords obtained from the Descriptors in Health Sciences (DeCS), of the VHLRESULTS: The searches resulted in 131 articles. After filtering by reading titles, 100 articles were selected for reading the abstract. At the end of the collection, 15 articles were selected. Of these, the year of publication was distributed every two years for analysis, with a significant growth in 2015 and 2016. As for the origin of the studies, 60% (n = 9) had data collection developed in China, Japan or the United States of America. Regarding the gender of the sample, 57.14% of them contained the predominantly or totally male sample and 42.85% female. Regarding the histological type of tumor, there was a wide variation between studies. In some of them, the sample contained different groups of tumor diagnosisCONCLUSION: The combination of surgery with postoperative radiotherapy proved to be effective and more efficient than these alone for the treatment of patients affected by metastatic neurological compression
INTRODUÇÃO: A coluna vertebral é a área mais frequente de metástase óssea em pacientes com doença neoplásica sistêmica. O objetivo do seu tratamento a descompressão imediata, a fim de evitar deterioração ou reverter o déficit da função neurológicaOBJETIVO: Analisar as características da literatura científica sobre a eficácia da cirurgia associada a radioterapia para melhora do déficit neurológico causado por compressão medular metastáticaMÉTODO: Estudo descritivo, a partir dos métodos da bibliometria e cientometria. Utilizando ambos, pode-se qualificar, constatar e atribuir sentido aos dados e ter, como resultado, um estudo amplo acerca das produções do tema em questão. Foram utilizados artigos publicados no National Library of Medicine (Pubmed), Web of Science e Biblioteca Virtual em Saúde (BVS), pesquisados através de palavras-chave obtidas no Descritores em Ciências da Saúde (DeCS), da BVSRESULTADOS: As buscas resultaram em 131 artigos. Após a filtragem por leitura de títulos, selecionou-se 100 artigos para leitura do resumo. Ao final da coleta foram selecionados 15 artigos. Destes, o ano de publicação foi distribuído bienalmente para análise, com um crescimento significativo no ano de 2015 e 2016. Quanto à procedência dos estudos, 60% (n = 9) tiveram a coleta dados desenvolvida na China, Japão ou Estados Unidos da América. Em relação ao sexo da amostra, 57,14% deles continham a amostra predominante ou totalmente masculina e 42,85% feminina. Em relação ao tipo histológico do tumor, houve uma grande variação entre os estudos. Em alguns deles, a amostra continha grupos diferentes de diagnostico tumoralCONCLUSÃO: A combinação de cirurgia com radioterapia pós-operatória se mostrou eficaz e mais eficiente do que estas isoladas para o tratamento de pacientes acometidos por compressão neurológica metastática
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Humanos , Masculino , Femenino , Radioterapia , Compresión de la Médula Espinal , Terapéutica , Neoplasias Primarias Desconocidas , Metástasis de la NeoplasiaRESUMEN
Given the benefits and likely future applications, there is an urgent need to expand the use of next-generation sequencing (NGS) in breast, lung, and unknown primary cancers in Colombia. The objective of this review is to address the barriers limiting access to the use of NGS in Colombia, specifically for patients with breast, lung, and unknown primary cancers in the public health care system. A selected Panel of Colombian experts in NGS were provided with a series of relevant questions to address in a multiday conference. Each narrative was discussed and edited by the Panel through numerous drafts and rounds of discussion until consensus was achieved. There are limitations to the widespread adoption of innovative technology inherent to the Colombian health care system. Barriers identified to implementing NGS in Colombia include availability, accessibility, and affordability; limited infrastructure; training and awareness of health personnel; quality-control procedures; and collection of local data. Stakeholders must align to adapt the implementation of NGS to the constraints of resource-limited environments. Diagnostic algorithms were developed to guide molecular testing for lung, breast, and unknown primary cancers. Recommendations on overcoming the barriers to the widespread adoption of NGS include country-specific molecular testing guidelines, creating a national genetic registry, improving infrastructure, and creating health policy that favors the adoption of innovative technology.
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Neoplasias Primarias Desconocidas , Colombia , Consenso , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , PulmónRESUMEN
BACKGROUND: This study aims to genomically characterize melanoma of unknown primary (MUP) in comparison to melanomas of cutaneous primary (MCP). METHODS: Eligible cases were collected from the MSK-IMPACT™ Clinical Sequencing Cohort published in the cBioPortal database. Genomic analysis was performed using a hybridization-capture-based next-generation sequencing assay designed to detect mutations, small insertions and deletions, copy number alterations, and genomic rearrangements. RESULTS: Among 462 patients of whom 18.4% had MUP, brain metastasis was more common among patients with MUP (23% vs 7.1%). The differences in genomic profiling between MCP and MUP did not reach statistical significance. The 187 MCP and 44 MUP patients treated with immune checkpoint inhibitors had a median overall survival of 49 and 44 months, respectively (p = 0.705). CONCLUSIONS: The differences in somatic mutation patterns and survival outcomes were not statistically significant. These findings may allude to similar carcinogenic processes but should be considered exploratory and interpreted with caution.
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Melanoma/genética , Neoplasias Primarias Desconocidas/genética , Neoplasias Cutáneas/genética , Neoplasias Encefálicas/secundario , Variaciones en el Número de Copia de ADN , Bases de Datos Genéticas , Femenino , Eliminación de Gen , Reordenamiento Génico , Genes de Neurofibromatosis 1 , Genes p53 , Perfil Genético , Genómica , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Neoplasias Pulmonares/secundario , Masculino , Melanoma/tratamiento farmacológico , Melanoma/mortalidad , Melanoma/secundario , Mutación , Neoplasias Primarias Desconocidas/tratamiento farmacológico , Neoplasias Primarias Desconocidas/mortalidad , Neoplasias Primarias Desconocidas/patología , Proteínas Tirosina Quinasas/genética , Proteínas Proto-Oncogénicas/genética , Proteínas Proto-Oncogénicas B-raf/genética , Neoplasias Cutáneas/tratamiento farmacológico , Neoplasias Cutáneas/mortalidad , Neoplasias Cutáneas/patología , Telomerasa/genéticaRESUMEN
ABSTRACT Objective: The goal of the study was to report the prevalence of spinal metastasis with unknown primary tumor, clinical features, treatment results and patient survival. Methods: A retrospective evaluation of 103 patients with spinal metastasis and epidural compression, who underwent surgical treatment between March 2009 and August 2015. The prevalence of metastatic spinal tumor with unknown primary tumor was evaluated, as well clinical features, survival and treatment results. Results: Of 103 patients with spinal metastasis and epidural compression, seven patients (6.8%) with unknown primary tumor site were identified; five (71.4%) male and two (28.6%) female, with ages ranging from 37 to 67 years (50.7 years). The metastasis was located in the thoracic spine in six of the patients (85.7%) and in the cervical spine in one (14.3%). The mean survival time was 44.8 days. Conclusion: Spinal metastasis with unknown primary tumor was found in 6.8% of patients. The prognosis and outcomes were poor, and patients had poor survival rates. Level of evidence III; Experimental study.
RESUMO Objetivo: O objetivo deste estudo foi relatar a prevalência de metástases vertebrais em tumores primários desconhecidos, suas características clínicas, resultados do tratamento e sobrevida dos pacientes. Métodos: Avaliação retrospectiva de 103 pacientes com metástase da coluna vertebral e compressão epidural, submetidos a tratamento cirúrgico entre março de 2009 e agosto de 2015. Avaliou-se a prevalência de tumores metastáticos vertebrais com tumor primário desconhecido, assim como as características clínicas, a sobrevida e os resultados do tratamento. Resultados: Dos 103 pacientes com metástase vertebral e compressão epidural, foram identificados sete pacientes (6,8%) com tumor primário de origem desconhecida; cinco pacientes (71,4%) eram do sexo masculino e dois pacientes (28,6%) do sexo feminino, com idades variando de 37 a 67 anos (50,7 anos). A localização da metástase vertebral era na coluna torácica em seis pacientes (85,7%) e na coluna cervical em um paciente (14,3%). A média de sobrevida dos pacientes foi de 44,8 dias. Conclusões: As metástases vertebrais com tumor primário de origem desconhecida foram observadas em 6,8% dos pacientes. O prognóstico e os resultados foram ruins, e os pacientes tiveram sobrevida bastante baixa. Nível de evidencia III; Estudo Comparativo Retrospectivo.
RESUMEN Objetivo: El objetivo de este estudio fue relatar la prevalencia de metástasis vertebrales en tumores primarios desconocidos, sus características clínicas, resultados del tratamiento y sobrevida de los pacientes. Métodos: Evaluación retrospectiva de 103 pacientes con metástasis de la columna vertebral y compresión epidural, sometidos a tratamiento quirúrgico entre marzo de 2009 y agosto de 2015. Se evaluó la prevalencia de tumores metastásicos con tumor primario desconocido, así como las características clínicas, la sobrevida y los resultados del tratamiento. Resultados: De los 103 pacientes con metástasis vertebral y compresión epidural, fueron identificados siete pacientes (6,8%) con tumor primario de origen desconocido; cinco pacientes (71,4 %%) eran del sexo masculino y dos (28,6%) del sexo femenino, con edades variando de 37 a 67 años (50,7 años). La localización de la metástasis vertebral era en la columna torácica en seis pacientes (85,7%) y en la columna cervical en un paciente (14,3%). El promedio de sobrevida de los pacientes fue de 44,8 días. Conclusiones: Las metástasis vertebrales con tumor primario de origen desconocido fueron observadas en 6,8% de los pacientes. El pronóstico y los resultados fueron malos y los pacientes tuvieron sobrevida bastante baja. Nivel de evidencia III; Estudio Comparativo Retrospectivo.
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Humanos , Columna Vertebral , Neoplasias Primarias Desconocidas , Metástasis de la NeoplasiaRESUMEN
Resumen En adultos, una masa cervical detectada mediante examen físico o un estudio de imagen puede ser la única manifestación de un cáncer proveniente de cabeza y cuello. Un retraso en el diagnóstico repercute en el pronóstico de la enfermedad, por lo que debe haber un alto índice de sospecha. Las metástasis cervicales con primario desconocido (MCCPD) son tumores metastásicos en los que el estudio diagnóstico no logró identificar el sitio primario del cáncer, con una histología predominantemente de tipo escamosa. Según algunos estudios, el origen más frecuente resultó ser la orofaringe, incluyendo amígdala palatina y base de lengua. Factores de riesgo conocidos son edades avanzadas, consumo de tabaco y de alcohol. Actualmente, la infección por el virus del papiloma humano (VPH) está teniendo un rol cada vez más importante como factor de riesgo, formando parte de entre 20%-25% de los cánceres de cabeza y cuello. Al enfrentarse a un paciente con masa cervical es importante realizar una completa anamnesis y examen físico acucioso para detectar cualquier elemento sugerente de malignidad. Se debe complementar con nasofibroscopía para visualizar estructuras que no alcanzan a evaluarse en el examen habitual. También se puede orientar la búsqueda del primario desconocido en base a los patrones de drenaje linfático. Dentro del estudio complementario se puede comenzar con una tomografía computada (TC) y se puede considerar también el ultrasonido o un PET/TC. Si con esto aún no se logra definir el primario, continuar con una punción aspirativa con aguja fina (PAAF), luego biopsia core que consiste en tomar una muestra del centro de la lesión guiada por ecografía, si fuese necesario, incluyendo inmunohistoquímica para VPH; ambos estudios histológicos son preferibles en vez de una biopsia abierta debido al menor riesgo de diseminación y complicaciones. El siguiente paso incluye estudio endoscópico y biopsias bajo anestesia. El tratamiento de los pacientes con MCCPD, va a depender de factores relacionados con el estadio de la enfermedad: desde cirugía o radioterapia (RT) únicas, cirugía más RT, y en algunos casos quimioterapia. Se recomienda seguimiento clínico frecuente durante los primeros años y con imágenes dentro de los 6 primeros meses postratamiento.
Abstract In adults, a cervical mass detected by physical examination or an imaging study may be the only manifestation of cancer from the head and neck. A delay in the diagnosis affects the prognosis of the disease, so there must be a high index of suspicion. Cervical metastases from unknown primary tumor (CUP) are metastatic tumors in which the diagnostic study failed to identify the primary site of cancer, with predominantly squamous histology. According to some studies, the most frequent origin was the oropharynx, including palatine tonsil and tongue base. Known risk factors are advanced ages, tobacco and alcohol consumption. Currently, human papilloma virus (HPV) infection is playing an increasingly important role as a risk factor, being the cause of between 20-25% of cancers of the head and neck. When confronting a patient with cervical mass it is important to carry out a complete anamnesis and a thorough physical examination to detect any element suggestive of malignancy. Physical examination could be complemented with a flexible nasal endoscopic to evaluate structures that can not be evaluated in the habitual examination. The search for the unknown primary can also be oriented based on lymphatic drainage patterns. Within the complementary evaluations, one can start with a study of images such as computed tomography (CT) or magnetic resonance imaging (MRI) with contrast, and also could consider ultrasound or PET/CT. If the primary can not be defined yet, fine needle aspiration (FNAP) can be the next choice and then a core biopsy that consisting of taking a sample from the center of the ultrasound-guided lesion, if necessary, including immunohistochemistry for HPV; both histological studies are preferable to an open biopsy because of the lower risk of complications. The next step searching for the primary includes endoscopic study and biopsies under anesthesia. Regarding to the management of patients with CUP, it will depend on factors related to the stage of the disease: from surgery or radiotherapy (RT) only, surgery and RT, and in some cases chemotherapy. Frequent clinical follow-up is recommended during the first years and images within the first 6 months after treatment.
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Humanos , Neoplasias Primarias Desconocidas/patología , Carcinoma de Células Escamosas/secundario , Neoplasias de Cabeza y Cuello/patología , Neoplasias Primarias Desconocidas , Neoplasias Primarias Desconocidas/radioterapia , Carcinoma de Células Escamosas/radioterapia , Carcinoma de Células Escamosas/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Biopsia con Aguja Fina , Neoplasias de Cabeza y Cuello/radioterapia , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , CuelloAsunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Betacoronavirus/aislamiento & purificación , Infecciones por Coronavirus/diagnóstico , Neumonía Viral/diagnóstico , Neumonía/diagnóstico , Anciano , Anciano de 80 o más Años , COVID-19 , Prueba de COVID-19 , Técnicas de Laboratorio Clínico/normas , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/virología , Diagnóstico Tardío , Diagnóstico Diferencial , Femenino , Glucocorticoides/uso terapéutico , Humanos , Ipilimumab/efectos adversos , Tiempo de Internación , Neoplasias Hepáticas/tratamiento farmacológico , Neoplasias Hepáticas/inmunología , Neoplasias Hepáticas/secundario , Pulmón/diagnóstico por imagen , Masculino , Melanoma/tratamiento farmacológico , Melanoma/inmunología , Melanoma/secundario , Metilprednisolona/uso terapéutico , Nasofaringe/virología , Neoplasias Primarias Desconocidas/tratamiento farmacológico , Neoplasias Primarias Desconocidas/inmunología , Nivolumab/efectos adversos , Pandemias , Neumonía/tratamiento farmacológico , Neumonía/inmunología , Neumonía Viral/epidemiología , Neumonía Viral/virología , SARS-CoV-2 , Factores de Tiempo , Tiempo de Tratamiento , Tomografía Computarizada por Rayos X , Neoplasias de la Úvea/tratamiento farmacológico , Neoplasias de la Úvea/inmunología , Neoplasias de la Úvea/secundarioRESUMEN
Resumen Introducción El tejido mamario ectópico es consecuencia de la involución incompleta de la cresta mamaria. Su localización más frecuente es axilar siendo más común en el sexo femenino. Nuestro objetivo fue presentar el caso de una patología infrecuente en su localización. Materiales y Método Se presenta el caso de una paciente de 39 años, con diagnóstico de cáncer de mama ectópica en la región axilar izquierda. Resultados Presentamos el estudio y la resolución quirúrgica de una paciente con cáncer de mama ectópica. Discusión La presencia de tejido mamario ectópico ocurre en el 2%-6% de la población general. Este tejido sufre cambios fisiopatológicos similares a los de la mama normal, entre los cuales se encuentra la malignización. El carcinoma primario de este tejido es infrecuente y su manifestación más común es el tumor palpable. Conclusiones La incidencia de carcinoma en tejido ectópico es de 0,3% de todos los cánceres de mama. El tratamiento debe seguir las mismas recomendaciones que el cáncer de mama normotópico, con igual estadio TNM.
Introduction Ectopic mammary tissue is consecuence of the incomplete involution of the mammary crest. The most frequent location is the axillary region and more common in women. Our gol was present the case of an infrequent pathology in its location. Materials and Method A case of a 39-year-old patient with a diagnosis of ectopic breast cancer in the left axillary region. Results We present the study and surgical resolution of a patient with ectopic breast cancer. Discussion Ectopic breast tissue occurs in 2-6% of the general population. This tissue undergoes pathophysiological changes similar to those of the normal breast, among which malignancy is found. The primary carcinoma of this tissue is infrequent and its most common manifestation is the palpable tumor. Conclussion The incidence of carcinoma in ectopic tissue is approximately 0.3% of all breast cancers. Treatment should follow the same recommendations as those for breast tumors with the same TNM stage.
Asunto(s)
Humanos , Femenino , Adulto , Axila/cirugía , Axila/patología , Mama/patología , Neoplasias de la Mama/diagnóstico por imagen , Mastectomía/métodos , Neoplasias Primarias Desconocidas , Neoplasias de la Mama/cirugía , Neoplasias de la Mama/complicaciones , MamografíaRESUMEN
CONTEXTO: El cáncer metastásico con tumor primario de origen desconocido (CPD) es un grupo heterogéneo de neoplasias malignas en los cuales el sitio de origen no es identificado a pesar de un enfoque diagnóstico estandarizado. Representa aproximadamente el 3% de los todos los tumores malignos. La importancia de determinar el sitio de origen de un tumor metastásico radica en que el beneficio de los diferentes esquemas de tratamiento (cirugía, quimioterapia, radioterapia, terapias dirigidas) depende del tipo histológico y sitio primario del tumor. En base a las características histológicas, clínicas, terapéuticas y de pronóstico, los pacientes con CPD se pueden clasificar en dos grupos: el favorable (20% de los casos) con una sobrevida global de 12 a 36 meses; y el desfavorable (80% de los casos) donde la sobrevida media disminuye a 6 meses. TECNOLOGÍA: Las técnicas NGS permiten analizar múltiples genes simultáneamente. La NGS puede detectar um amplio espectro de alteraciones genómicas, incluyendo mutaciones puntuales(inserciones, deleciones o sustituciones), variaciones en el número de copias (CNV, sigla del inglés copy number variations), translocaciones y fusiones en múltiples genes.5 De esta manera permite un análisis tumoral más eficiente en comparación con el análisis escalonado de varios genes, al permitir el ahorro de tiempo y muestra necesaria. OBJETIVO: El objetivo del presente informe es evaluar la evidencia disponible acerca del desempeño diagnóstico, y aspectos relacionados a las políticas de cobertura del uso de Target NGS en tumores de origen desconocidos. MÉTODOS: Se realizó una búsqueda en las principales bases de datos bibliográficas, en buscadores genéricos de internet, y financiadores de salud. Se priorizó la inclusión de revisiones sistemáticas (RS), ensayos clínicos controlados aleatorizados (ECAs), evaluaciones de tecnologías sanitarias (ETS), evaluaciones económicas, guías de práctica clínica (GPC) y políticas de cobertura de diferentes sistemas de salud. RESULTADOS: Se incluyeron cuatro GPC y 16 informes de políticas de cobertura de la utilización de paneles genéticos (Target NGS) en tumores de origen desconocidos. No se encontraron ensayos aleatorizados que evaluaran la efectividad de la utilización de los paneles de secuenciación genética a través de la técnica de NGS en relación a desenlaces clinicamente relevantes para los pacientes. Actualmente se encuentra en curso (etapa de reclutamiento) un ECA que trata de establecer el beneficio del uso de paneles genéticos por NGS en tumores de origen desconocidos (estudio denominado CUPISCO/ NCT03498521) para guiar el tratamiento luego de haber obtenido el perfil genómico. Adicionalmente se incluyeron los resultados de dos estudios que evaluaron la utilización de paneles genéticos en tumores de origen desconocidos a través de otras técnicas no NGS. CONCLUSIÓN: Evidencia de moderada calidad sugiere que, en pacientes con cáncer metastásico con tumor primario de origen desconocido, la determinación del sitio probable de origen a través del perfil molecular y la posterior elección del tratamiento, no resultaría en una mejora significativa en la sobrevida global, sobrevida libre de progresión o tasa de respuesta frente a la utilización de um tratamiento de quimioterapia de manera empírica. Existe consenso entre las guías de práctica clínica de las principales sociedades internacionales y diferentes financiadores consultados en no contemplar su utilización dentro de los estándares de tratamiento de este grupo de pacientes.
Asunto(s)
Humanos , Neoplasias Primarias Desconocidas/tratamiento farmacológico , Marcación de Gen , Variaciones en el Número de Copia de ADN , Evaluación en Salud , Análisis Costo-BeneficioRESUMEN
Resumen Una de las características inusuales del melanoma cutáneo es la capacidad de metastatizar en el intestino delgado. A menudo se diagnostica durante la autopsia, en la cual se ha encontrado depósitos metastásicos en el 50%-60% de los casos, pero menos del 2% al 4% de los pacientes con diagnóstico de melanoma tiene metástasis gastrointestinal (GI) durante el curso de la enfermedad y entre el 4%-9% de casos de melanoma GI tiene un primario desconocido. La rápida identificación y resección del melanoma en el tracto digestivo podría mejorar la tasa de supervivencia en aquellos pacientes en los que se presentan complicaciones, como obstrucción intestinal. Se presenta un caso clínico de melanoma gastrointestinal de origen primario desconocido. El porcentaje de este tipo de casos es poco frecuente. La paciente presentó cuadro clínico de náuseas, hiporexia, epigastralgia, fatiga, parestesias en región dorsal derecha y disminución de 9 kilogramos en 3 semanas. Le realizaron tomografía computarizada (TAC) de abdomen contrastado, que reportó 3 lesiones en hígado de predominio isodenso en el parénquima, con algunas áreas de menor densidad al interior, localizadas en los segmentos 2, 5, 7 y 8 del hígado al que se le realizó la biopsia. Se llevó a cabo endoscopia de vías digestivas altas con biopsia de 2 lesiones hiperpigmentadas en la segunda porción de duodeno. El examen histopatológico de las biopsias evidenció melanoma maligno. Se excluyeron todas las localizaciones típicas de melanoma primario durante el procedimiento diagnóstico.
Abstract One of the unusual characteristics of cutaneous melanoma is its ability to metastasize in the small intestine. It is often diagnosed during autopsies of cutaneous melanoma patients. Metastatic deposits have been found in 50% to 60% of these autopsies, but less than 2% to 4% of patients diagnosed with melanoma have gastrointestinal metastasis during the course of the disease. Between 4% and 9% of gastrointestinal melanoma cases have unknown primary tumors. Rapid identification and resection of melanoma in the digestive tract could improve the patient survival rate and prevent complications such as intestinal obstructions from occurring. We present a rare clinical case of gastrointestinal melanoma of unknown primary origin. The patient had a clinical picture of nausea, hyporexia, epigastralgia, fatigue, paresthesias in the right dorsal region and had lost nine kilograms in three weeks. An abdominal CT scan showed three predominantly isodense liver lesions in the parenchyma, with some areas of lower density located in segments 2,5,7 and 8 of the liver. These were biopsied. Upper digestive tract endoscopy took biopsy samples of two hyperpigmented lesions in the second portion of the duodenum. Histopathological examination showed malignant melanoma. All typical locations of primary melanoma were excluded during the diagnostic procedure.
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Neoplasias Primarias Desconocidas , Tracto Gastrointestinal , Melanoma , Metástasis de la NeoplasiaRESUMEN
Introducción: La incidencia de tumores primarios de origen desconocido en pacientes oncológicos es del 0,5 al 7 por ciento en el momento del diagnóstico con una supervivencia a los 3 y 5 años de 11 y 6 por ciento, respectivamente. Objetivo: valorar la utilidad de la técnica PET/CT-FDG (Tomografía por emisión de positrones con 18F-Fluordeoxiglucosa) en el diagnóstico de tumor primario de origen desconocido (TOD). Material y método: Se analizaron retrospectivamente los estudios PET/CT-FDG realizados en pacientes con el diagnóstico de TOD para la búsqueda de tumor primario, con estudios convencionales previos negativos, entre noviembre de 2017 y junio de 2018. El diagnóstico final se estableció mediante confirmación histológica y/o seguimiento clínico/radiológico por 8 meses. Resultados: 42 pacientes fueron estudiados, en 19 estudios PET/CT se evidenciaron focos de captación sugestivos de tumor primario, de los cuales 9 se confirmaron histológicamente como verdaderos positivos y sólo 1 correspondió a un falso positivo. De los 23 pacientes con PET/CT negativos para tumor primario, todos continuaron con diagnóstico de TOD a pesar de las múltiples pruebas diagnósticas. Conclusiones: La técnica PET/CT permitió identificar el 45,2 por ciento de los tumores primarios en la muestra de pacientes, lo que la convierte en una herramienta útil para el diagnóstico en pacientes con metástasis de origen desconocido. Se considera que el PET/CT-FDG debe ser incluido de manera precoz en los algoritmos diagnósticos en Cuba, permitiendo orientar la realización de pruebas complementarias subsiguientes(AU)
Introduction: The incidence of carcinoma of unknown primary origin in oncologic patients is from 0,5 percent to 7 percent at the time of diagnosis with an overall 3-year and 5-year survival of 11 percent and 6 percent, respectively. Objective: To assess the effectiveness of 18 F-FDG-PET/CT (18F-fluorodeoxyglucose posıtron emıssıon tomography) in the diagnosis of carcinoma of unknown primary origin (CUP). Material and Methods: F-FDG-PET/CT studies were conducted in patients with CUP in the search for primary tumor with negative previous conventional studies carried out from November, 2017 to June 2018. The final diagnosis was established by histological confirmation and/or clinical/radiological follow-up during 8 months. Results: A total of 44 patients were studied. There were evidences of suggestive CUP in 19 patients; 9 of them were histologically confirmed as true-positive and only 1 was a false-positive. Of the 23 patients with negative F-FDG-PET/CT studies for primary tumor, all of them continued with the diagnosis of CUP in spite of multiples diagnostic tests. Conclusions: The FDG-PET/CT technique allowed to identify 45,2 percent of the primary tumors in this study, which demonstrates that it is very useful tool for the diagnosis of metastases of unknown origin. It is considered that F-FDG-PET/CT studies should be included earlier in the diagnostic algorithms in Cuba, which will allow to indicate subsequent complementary tests(AU)
Asunto(s)
Humanos , Neoplasias Primarias Desconocidas/diagnóstico , Tomografía de Emisión de Positrones/métodosRESUMEN
Introducción: La metástasis de origen desconocido es una entidad clínica relativamente común, que representa del 5% de todos los cánceres invasivos. La búsqueda del origen primario puede resultar desafiante por un patrón atípico metastásico, no obstante el adenocarcinoma y carcinomas indiferenciados representan un 75% siendo el adenocarcinoma el más complicado de determinar su sitio primario ya que sus características citológicas/histológicas generalmente no son específicas. Por esta razón surge la necesidad identificar el origen primario de las lesiones metastásica de origen desconocido en pacientes con y sin antecedentes oncológicos personales, el sexo y edad de mayor prevalencia. Métodos: Investigación observacional descriptiva, retrospectiva tomándose como universo de 100 pacientes con diagnóstico histopatológico de Carcinoma/Adenocarcinoma metastásico en el departamento de Anatomía patológica del Instituto Oncológico Nacional "Dr. Juan Tanca Marengo" Solca-Guayaquil en el periodo 2013-2015, con y sin antecedentes oncológicos personales. Resultados: Se obtuvo una muestra de 91 pacientes, donde la localización metastásica más frecuente fue en los ganglios cervicales (27%), seguida del hígado (13%), hueso y epiplón (9%). Además, en 69 de ellos pudo ser posible la identificación del origen primario de la lesión metastásica. Conclusión: La topografía metastásica de neoplasia primaria desconocida tales como los ganglios cervicales y el hígado son los lugares de notable predominio, siendo el ganglio cervical el lugar de biopsia por excelencia debido a su mayor accesibilidad. La metástasis de origen desconocido a pesar de ser más frecuente en el sexo femenino, tiene una gran incidencia en el grupo etario entre 61-70 años.
Introduction: The metastasis of unknown origin is clinical entity relatively common, which represents 5% of all invasive cancer. The research of the primary origin could be difficult because of its atypical pattern, instead that, the undifferentiated adenocarcinoma and carcinoma represents 75% , being adenocarcinoma the most complicated to diagnoses the primary origin because of their unspecific characteristic cytological/histological. For this reason is necessary to identify the primary origin of the metastatic lesion with unknown origin in patients with or without personal oncological background, sex and age with higher prevalence. Methods: Observational, descriptive- retrospective investigation that used the collection 100 patients with histopathologic diagnoses carcinoma/adenocarcinoma metastatic in the Anatomy Pathologic Department of ION-SOLCA period 2013-2015, with and without personal oncological background. Results: Sample of 91 patients, in 69 of them were the most frequently metastatic location was superior cervical ganglion (27%), liver (13%), bone and omentum (9%). Furthermore, 69 patients were possible to identify the primary origin of the metastatic lesion. Conclusion: The metastatic location of the neoplasm unknown primary such as superior cervical ganglion and liver are the places more common, being superior cervical ganglion with most accessibility for biopsies. The neoplasm unknown primary is more frequently in female sex and has a high incidence at the ages of 61-70 years.
Asunto(s)
Humanos , Neoplasias Primarias Desconocidas , Neoplasias Primarias Secundarias , Metástasis de la Neoplasia , Metástasis Mórbida , Ganglio Cervical Superior , Metástasis LinfáticaRESUMEN
A 10-year-old female American Pit Bull dog was diagnosed with metastatic undifferentiated carcinoma of the scapula. Immunohistochemistry showed positive immunoexpression for cytokeratins (AE1/AE3, 34BE12, CK7) and vimentin, confirming squamous cell carcinoma. No evidence of nodules was found in the complete physical examination and imaging procedures conducted. The patient was diagnosed with carcinoma of unknown primary origin. Amputation and adjuvant chemotherapy with doxorubicin and piroxicam were performed, but the patient died of respiratory failure after 737 days of diagnosis. Necropsy confirmed undifferentiated carcinoma infiltrating the lungs and kidneys, and showing the same immunoexpression as the tumor in the scapula. Amputation associated with chemotherapy extended the overall survival time of this patient.
Asunto(s)
Neoplasias Óseas/secundario , Neoplasias Óseas/veterinaria , Carcinoma de Células Escamosas/secundario , Carcinoma de Células Escamosas/veterinaria , Neoplasias Primarias Desconocidas/veterinaria , Amputación Quirúrgica/veterinaria , Animales , Biomarcadores de Tumor , Neoplasias Óseas/tratamiento farmacológico , Neoplasias Óseas/cirugía , Carcinoma de Células Escamosas/tratamiento farmacológico , Carcinoma de Células Escamosas/cirugía , Perros , Quimioterapia/veterinaria , Femenino , Inmunohistoquímica , Queratinas/metabolismo , Neoplasias Renales/secundario , Neoplasias Renales/veterinaria , Neoplasias Pulmonares/secundario , Neoplasias Pulmonares/veterinaria , Neoplasias Primarias Desconocidas/tratamiento farmacológico , Neoplasias Primarias Desconocidas/cirugía , Escápula/metabolismo , Escápula/patología , Escápula/cirugía , Vimentina/metabolismoRESUMEN
Propósito de la revisión: el objetivo de la revisión es delinear el rol del Manejo Quirúrgico del carcinoma metastásico primario de cabeza y cuello. Buscamos reportes en indicaciones, posibles hallazgos y subsecuentes tratamientos. Recientes hallazgos: La punción aspirativa con aguja fina, permite diferenciar la etiología de los nódulos del cuello: melanoma, carcinoma tiroideo, linfoma y otros tumores indiferenciados. La medición de tiroglobulina ayuda a diferenciar una neoplasia de tiroides. El nivel ganglionar afectado I al III incluye el protocolo de paratiroidectomia, amigadalectomía. El nivel ganglionar IV y V el primario es infraclavicular. Extracto: El cáncer metastásico de primario oculto es una neoplasia con confirmación histológica pero con lesión primaria desconocida. Su manejo es controversial y en la mayoría de los casos insuficiente para llegar al diagnóstico, incluso con la autopsia. La aproximación inicial comprende una serie de exámenes de laboratorio e imágenes de alta complejidad que incluyen la tomografía por emisión de positrones con el test de la Flúor 2-Deoxi Glucosa (FDG-PET/CT), los estudios de anatomía patológica son el segundo paso dentro del manejo estándar e incluyen la Punción y Aspiración con Aguja fina (PAAF). La microscopia tradicional no es suficiente para identificar el tumor primario, las tinciones inmunohistoquímicas aunque no son especificas ni sensibles ayudan con ese propósito y aún más la microscopia electrónica. La biopsia o procedimientos más agresivos como la amigdalectomía son conductas a seguir si aún no se ha logrado el diagnóstico. Se presenta una revisión del estado del arte del manejo del Carcinoma Metastásico de Primario Desconocido de Cabeza y Cuello.
Purpose of the review: the objective of the review is to delineate the role of Surgical Management of primary metastatic carcinoma of the head and neck. We look for reports on indications, possible findings and subsequent treatments. Recent findings: Fine-needle aspiration can differentiate the etiology of neck nodules: melanoma, thyroid carcinoma, lymphoma and other undifferentiated tumors. The measurement of thyroglobulin helps to differentiate a thyroid neoplasm. The affected lymph node level I to III includes the protocol of parathyroidectomy, amigdalectomy. The nodal level IV and V the primary is infraclavicular. Excerpt: Metastatic cancer of the occult primary is a neoplasm with histological confirmation but with an unknown primary lesion. Its management is controversial and in most cases insufficient to reach the diagnosis, even with autopsy. The initial approach involves a series of laboratory tests and highly complex images that include positron emission tomography with the Flucor 2-Deoxy Glucose test (FDG-PET / CT), pathology studies are the second step within standard handling and include Puncture and Fine Needle Aspiration (FNAP). Traditional microscopy is not enough to identify the primary tumor, immunohistochemical stains although they are not specific or sensitive help with this purpose and even more so electron microscopy. Biopsy or more aggressive procedures such as tonsillectomy are behaviors to follow if the diagnosis has not yet been achieved. A review of the state of the art of metastatic carcinoma of Unknown Head and Neck Primary is presented.