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In the context of cystic lesions of the pancreas and their paucisymptomatic symptoms, we present the case of a 33-year-old woman with epigastric pain and nonspecific abdominal discomfort. Computed tomography and magnetic resonance imaging were performed, with the finding of a lesion at the level of the head-uncinate process of the pancreas, compatible with a solid pseudopapillary neoplasm of the pancreas. The procedure was performed with a cephalic pancreaticoduodenectomy of Whipple, without incident. After 18 months of follow-up, the disease remains free. It is worth highlighting the importance of images prior to therapeutic planning, due to the proximity of the tumor to the celiac artery in the hepatic artery´s origin.
En el contexto de las lesiones quísticas del páncreas y su clínica paucisintomática, se presenta el caso de una mujer de 33 años que inicia estudio por epigastralgia y molestias abdominales. Se realizan tomografía computarizada y resonancia magnética, con hallazgo de una lesión a nivel de la cabeza-proceso uncinado del páncreas, compatible con una neoplasia pseudopapilar sólida del páncreas. Se interviene realizando duodenopancreatectomía cefálica de Whipple, que transcurre sin incidencias. Tras 18 meses de seguimiento, persiste libre de enfermedad. Cabe destacar la importancia de las imágenes previas a la planificación terapéutica, por la proximidad de la tumoración al tronco celíaco en la salida de la arteria hepática.
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Carcinoma Papilar , Achados Incidentais , Imageamento por Ressonância Magnética , Neoplasias Pancreáticas , Pancreaticoduodenectomia , Tomografia Computadorizada por Raios X , Humanos , Feminino , Adulto , Neoplasias Pancreáticas/cirurgia , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/diagnóstico , Carcinoma Papilar/cirurgia , Carcinoma Papilar/patologia , Carcinoma Papilar/diagnóstico por imagem , Carcinoma Papilar/diagnóstico , Dor Abdominal/etiologiaRESUMO
Background: Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant syndrome characterized by medullary carcinoma of the early thyroid, pheochromocytoma, and non-endocrine manifestations, such as marfanoid habits and other skeletal abnormalities as well as mucosal neuromas and ganglioneuromatosis of the gastrointestinal tract. Case Description: A 10-year-old male began follow-up at our service at 3 years of age through pediatric gastroenterology due to intestinal constipation. The mother also reported that the child had painless lesions on the tip of the tongue since birth with progressive worsening. The patient simultaneously began follow-up with pediatric endocrinology due to low gains in weight and height, between which only isolated low weight was found, and the onset of follow-up with the pediatric neurology team due to longstanding headache combined with vomiting, photophobia, and phonophobia as well as a specific reading and writing disorder. The patient was sent to clinical genetics. The child's karyotype was 46, XY (normal). Through a physical examination, the pediatric neurology team identified joint hypermobility, important muscle hypotrophy, gingival hypertrophy, and lipodystrophy. The patient was sent to neurogenetics, initiating a set of general laboratory exams for the investigation of the lipodystrophy and a panel of exams for lipodystrophy, neuropathy, and muscle hypotrophy as well as electroneuromyography. MEN2B due to genetic mutation was confirmed and the patient was sent to the pediatric endocrinology clinic for follow-up. Currently 10 years of age and again with the pediatric endocrinology team for the diagnosis of MEN2B, the investigation of pheochromocytoma and medullary thyroid cancer was initiated. Conclusions: An additional mutation occurs in most cases of MEN2B. The diagnosis is only established when the child or, in most cases, adolescent presents with medullary thyroid cancer in an advanced and even metastatic stage. However, non-endocrine manifestations, can lead to an early diagnosis and timely intervention. The diagnosis of MEN2B is made with the confirmation of the autosomal dominant genetic mutation or a mutation of the RET gene. In the absence of these mutations, the majority of clinical manifestations should be present.
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Objective: To describe Top-hat results and their association with margin status and disease relapse in a referral facility in Brazil. Methods: A retrospective study of 440 women submitted to LEEP to treat HSIL, in which 80 cases were complemented immediately by the top hat procedure (Top-hat Group - TH). TH Group was compared to women not submitted to Top-hat (NTH). The sample by convenience included all women that underwent LEEP from January 2017 to July 2020. The main outcome was the histological result. Other variables were margins, age, transformation zone (TZ), depth, and relapse. The analysis used the Chi-square test and logistic regression. Results: The TH Group was predominantly 40 and older (NTH 23.1% vs. TH 65.0%, p<0.001). No difference was found in having CIN2/CIN3 as the final diagnosis (NTH 17.0% vs. TH 21.3%, p=0.362), or in the prevalence of relapse (NTH 12.0% vs. TH 9.0%, p=0.482). Of the 80 patients submitted to top hat, the histological result was CIN2/CIN3 in eight. A negative top hat result was related to a negative endocervical margin of 83.3%. A CIN2/CIN3 Top-hat result was related to CIN2/CIN3 margin in 62.5% (p=0.009). The chance of obtaining a top hat negative result was 22.4 times higher (2.4-211.0) when the endocervical margin was negative and 14.5 times higher (1.5-140.7) when the ectocervical margin was negative. Conclusion: The top hat procedure did not alter the final diagnosis of LEEP. No impact on relapse was observed. The procedure should be avoided in women of reproductive age.
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Neoplasias do Colo do Útero , Humanos , Feminino , Estudos Retrospectivos , Neoplasias do Colo do Útero/cirurgia , Neoplasias do Colo do Útero/diagnóstico , Adulto , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Brasil , Displasia do Colo do Útero/cirurgia , Displasia do Colo do Útero/diagnóstico , Detecção Precoce de Câncer , Margens de ExcisãoRESUMO
BACKGROUND: Mexico reports low follow-up completion rates among women with abnormal cervical cancer screenings. This study aimed to identify barriers and facilitators to follow-up adherence among women with human papillomavirus (HPV) infection and premalignant cervical lesions in Mexico. METHODS: A mixed-methods study was conducted from February to April 2019. Participants included women undergoing follow-up care for high-risk human papillomavirus (HR-HPV) and premalignant lesions, along with health personnel from the Women's Healthcare Center (CAPASAM) in Mexico. Quantitative data were obtained from the Women's Cancer Information System and through a questionnaire about factors affecting follow-up adherence. Additionally, the health personnel involved completed a compliance checklist regarding care regulations. Descriptive statistics were used for analysis. Qualitative data were collected via semi-structured interviews with both groups, followed by a content analysis based on identified categories. The Hazard Analysis and Critical Control Point System confirmed care process risks. Proposals to enhance the Early Detection Program for Prevention and Control of Cervical Cancer were collected from a CAPASAM health personnel nominal group. RESULTS: Identified barriers to follow-up included low income among CAPASAM users, family provider roles limiting time for appointments, long waits for testing and results delivery, distant facilities, insufficient service hour communication, inadequate health personnel training, and a lack of systematic counseling. Hesitation toward follow-up was also linked to shame, apprehension, uncertainty, test aversion, fear of positive results, and limited cervical cancer and screening knowledge. Patriarchal attitudes of partners and limited access to the now-discontinued PROSPERA government program further discouraged follow-up. Facilitators comprised respectful treatment by CAPASAM staff, no-cost services, health campaigns, and positive user attitudes. CONCLUSIONS: The study found more barriers than facilitators to follow-up adherence, highlighting the need for strategies to bolster the Early Detection Program. Future strategies must address the comprehensive array of factors and incorporate stakeholder perspectives.
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Detecção Precoce de Câncer , Infecções por Papillomavirus , Lesões Pré-Cancerosas , Neoplasias do Colo do Útero , Humanos , Feminino , México , Adulto , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/psicologia , Infecções por Papillomavirus/psicologia , Pessoa de Meia-Idade , Detecção Precoce de Câncer/métodos , Lesões Pré-Cancerosas/diagnóstico , Lesões Pré-Cancerosas/psicologia , Cooperação do Paciente/estatística & dados numéricos , Cooperação do Paciente/psicologia , Inquéritos e Questionários , Displasia do Colo do Útero/psicologia , Displasia do Colo do Útero/diagnóstico , Pesquisa Qualitativa , Seguimentos , Adulto JovemRESUMO
RESUMEN La neoplasia de células dendríticas plasmocitoides blásticas (NCDPB) es una malignidad hematológica poco frecuente y generalmente agresiva, por lo cual se requiere su reconocimiento precoz. A continuación, se describe el curso clínico de una paciente de 72 años con NCDPB, en cuyos hallazgos más relevantes destacó la presencia de lesiones cutáneas, organomegalias, infiltración de la médula ósea. Posterior al diagnóstico se indicó quimioterapia sistémica, con buena respuesta, no obstante, a los 2 meses presentó recidiva de lesiones y la paciente falleció. En esta enfermedad es necesario establecer el diagnóstico diferencial con trastornos linfoproliferativos, leucemias linfoides y mieloides agudas, constituyendo el análisis morfológico de las células neoplásicas un aspecto importante para una adecuada orientación diagnóstica.
ABSTRACT Blastic plasmacytoid dendritic cell neoplasia (BCDPN) is a rare and generally aggressive hematological malignancy, which requires early recognition. Below, the clinical course of a 72-year-old patient with NCDPB is described, whose most relevant findings included the presence of skin lesions, organomegaly, and bone marrow infiltration. After the diagnosis, systemic chemotherapy was indicated, with a good response; however, after 2 months the lesions recurred and the patient died. In this disease it is necessary to establish the differential diagnosis with lymphoproliferative disorders, lymphoid and acute myeloid leukemias, with the morphological analysis of the neoplastic cells being an important aspect for adequate diagnostic guidance.
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Introducción: El lipoma es una neoplasia benigna común en tejidos blandos, pero poco frecuente en cavidad bucal. El mixolipoma es un subtipo histológico raro, caracterizado por adipocitos maduros y abundantes sustancias mucoides. Suele presentarse como nódulos submucosos blandos, móviles, recubiertos por mucosa intacta, crecimiento lento y asintomáticos hasta que crecen causando incomodidad. Reporte de caso: Hombre de 74 años habitante de la calle que presentó en fondo de surco en mucosa labial inferior lesión nodular de 2 cm de diámetro, que se desarrolló durante dos años, causando molestias al comer y fue eliminada quirúrgicamente. El estudio histopatológico mostró tejido adiposo maduro y zonas de aspecto mixoide, sin evidencia de atipia, red vascular plexiforme o lipoblastos, en la inmunohistoquímica los adipocitos maduros exhibieron marcada positividad para la proteína S-100 y negatividad para CD34, las células endoteliales mostraron positividad para CD34, confirmando el diagnóstico de mixolipoma. Conclusión: Es esencial que los proveedores de atención médica estén familiarizados con las manifestaciones clínicas del mixolipoma e incluirlo en los posibles diagnósticos ante la presencia de nódulos en la cavidad oral. Asimismo, no se debe subestimar la importancia de educar y concienciar sobre la salud bucal de los habitantes de la calle.
Introduction: Lipoma is a common benign neoplasm in soft tissues, but rare in the oral cavity. Myxolipoma is a rare histological subtype, characterized by mature adipocytes and abundant mucoid substances. It usually presents as soft, mobile submucosal nodules, covered by intact mucosa, slow growing and asymptomatic until they grow causing discomfort. Case report: This is the case of a 74-year-old street dweller who presented with a nodular lesion, 2 cm in diameter, at the bottom of the groove in the lower labial mucosa. The lesion developed over two years and caused discomfort when eating. It was surgically removed. The histopathological study showed mature adipose tissue and areas with a myxoid appearance, without evidence of atypia, plexiform vascular network or lipoblasts, in immunohistochemistry the mature adipocytes exhibited marked positivity for the S-100 protein and negativity for CD34, the endothelial cells showed positivity for CD34, confirming the diagnosis of myxolipoma. Conclusion: It is essential that healthcare providers are familiar with the clinical manifestations of myxolipoma and include it in the possible diagnoses in the presence of nodules in the oral cavity. Likewise, the importance of educating and raising awareness about the oral health of street dwellers should not be underestimated.
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Introducción. El carcinoma de células escamosas es una patología relativamente frecuente en Paraguay, que debe ser diagnosticada y tratada a tiempo. La variedad sarcomatoide es un subtipo poco frecuente, pero mucho más agresivo que la presentación convencional, con altas tasas de recurrencia y metástasis linfática. La exposición previa a radiación es uno de los principales factores desencadenantes. Caso clínico. Paciente de 83 años con antecedente de radioterapia por carcinoma escamocelular del paladar blando, quien consultó por una masa en el borde lateral de la lengua que correspondió a un carcinoma escamocelular del subtipo sarcomatoide. Resultados. El paciente fue sometido a cirugía y quimioterapia, pero presentó recaída tumoral a los cuatro meses, sin aceptar una cirugía de rescate, optando por el tratamiento paliativo y falleciendo a los pocos meses. Conclusión. El examen exhaustivo de la cavidad oral en una primera consulta permite identificar lesiones en estadios tempranos y el tratamiento multidisciplinario temprano puede mejorar la supervivencia global. El pronóstico de estos pacientes en estadios avanzados es desalentador. Actualmente la cirugía microvascular es la mejor opción terapéutica, pero la hemiglosectomía sin reconstrucción sigue siendo una opción aceptable en nuestro medio, conociendo los altos costos de la primera y el requerimiento de un grupo mayor de especialistas, largos tiempos quirúrgicos y estancias hospitalarias.
Introduction. Squamous cell carcinoma is a relatively common pathology in Paraguay, which must be diagnosed and treated on time. The sarcomatoid variety is a rare subtype, but much more aggressive than the conventional presentation, with high rates of recurrence and lymphatic metastasis. Previous exposure to radiation is one of the main triggering factors. Clinical case. An 83-year-old patient with a history of radiotherapy for squamous cell carcinoma of the soft palate, who consulted for a mass on the lateral edge of the tongue that corresponded to a squamous cell carcinoma of the sarcomatoid subtype. Results. The patient underwent surgery and chemotherapy, but had tumor relapse after four months, without accepting salvage surgery, opting for palliative treatment and dying a few months later. Conclusion. Exhaustive examination of the oral cavity in a first consultation allows lesions to be identified in early stages and early multidisciplinary treatment can improve overall survival. The prognosis of these patients in advanced stages is discouraging. Currently, microvascular surgery is the best therapeutic option, but hemiglossectomy without reconstruction continues to be an acceptable option in our environment, knowing the high costs of the former and the requirement for a larger group of specialists, long surgical times and hospital stays.
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Humanos , Neoplasias da Língua , Carcinoma de Células Escamosas , Radioterapia , Sarcoma , Carcinossarcoma , Recidiva Local de NeoplasiaRESUMO
INTRODUCTION: Breast cancer is a disease with high global prevalence. Clinical inflammatory biomarkers have been proposed as prognostic indicators in oncology. This research aims to determine the relationship between inflammatory markers and overall survival in breast cancer patients from four representative hospitals in Lima, Peru. METHODS: This is a multicentric, analytical, longitudinal retrospective cohort study with survival analysis in female patients with breast cancer, from 2015 to 2020, who had received at least one complete treatment regimen. The dependent variable was overall survival, and the independent variables were inflammatory markers neutrophil lymphocyte ratio, platelet lymphocyte ratio (PLR), albumin, and red cell distribution width; intervening variables included age, clinical stage, molecular subtype, and other known prognostic factors. The Kaplan-Meier method was applied to generate survival curves with the Log-Rank test, and finally, Cox regression, to find crude and adjusted hazard ratios (HR). RESULTS: Of 705 evaluated patients, 618 were analyzed. The mean age was 56.6 ± 12.3 years, 18.0% of patients were pure HER2 positive, 39.3% luminal A, 29.9% luminal B, 11.0% triple-negative, and 81.4% showed overweight and obesity. The average overall survival was 51.1 months. In the multivariate analysis, factors significantly related to lower overall survival were PLR > 150 (adjusted HR: 2.33; 95% confidence interval (CI): 1.22, 4.44) and stage III (adjusted HR: 4.15; 95% CI: 1.35, 12.83). CONCLUSIONS: The Elevated Platelet-Lymphocyte Index and advanced clinical stage were associated with lower overall survival in breast cancer patients. Furthermore, PLR >150 proved to be an independent prognostic factor for mortality.
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Despite the diagnostic capacity of ultrasonography (US) in cases of bovine enzootic hematuria (BEH), it has been underused in the medical clinic for ruminants. Studies comparing ultrasound findings in healthy animals (HA) with subclinical (SCH) and clinical (CH) BEH are scarce in the literature. As a result, the present work aims to describe the US findings of cattle at different stages of BEH evolution, evaluating the diagnostic capacity and precocity of the technique. The study was carried out on five rural properties in the municipalities of Rio Preto and Bom Jardim de Minas - MG, Brazil, using 46 dairy cattle, females over 18 months of age, evaluated and classified as G1/CH, G2/SCH and G3/HA, according to history, clinical examination and urinalysis, with subsequent ultrasound analysis of the bladder. The mean bladder wall thickness was 36.50 mm in G1/CH, 33.53 mm in G2/SCH and 37.93 mm in G3/HA. Irregular walls were observed in 53.33 % (8/15) of G1/CH, 27 0.78 % (5/18) of G2/SCH and 38.46 % (5/13) of G3/HA. Loss of the architecture of the urothelium layers was observed in 53.33 % (8/15) of G1/CH, 33.33 % (6/18) of G2/SCH and 38.46 % (5/13) of G3/HA. Multifocal and Grade I lesion were the most common. Ultrasonography allowed the identification of lesions in 38.46 % of animals that did not present hematuria and in 33.33 % of animals that presented occult blood and proved to be an efficient technique for detecting pre-clinical cases of BEH, allowing easy identification. and early onset of BEH cases.
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BACKGROUND AND OBJECTIVE: To analyze the cytokine profile in cerebrospinal fluid (CSF), as well as mood, anxiety, and cognition profiles in patients with CC. METHODS: One hundred and nine individuals were evaluated, 37 controls, 18 CWC, and 54 CC patients. Assessments included BDI, HADS, Digit Span, FAS-verbal, Animals/WMS-R, Matrix Reasoning and Vocabulary (WASI), and QLQ-C30. RESULTS: The CC group exhibited 62.96% depression and probable anxiety/depression, with 75.92% showing attention deficits. The CC and CWC groups demonstrated significant cognitive impairment on the WASI-Vocabulary test (CWC: 13.4 ± 2.2; CC: 15.9 ± 1.1) compared to the control group (Ct: 22.8 ± 1.6; p = 0.0002). In the QLQ-C30 scores, the CC group reported a greater perceived loss of quality of life and health deterioration (score of 17.5 ± 2.6) and lower scores on the Functional Scale (49.8 ± 4.5). The CC group had 18.52% illiteracy, 18.52% incomplete higher education, and 22.22% complete elementary education. The CC group also had lower weight (Ct: 67.8 ± 1.4; CWC: 61.7 ± 3.1; CC: 59.6 ± 1.7; p = 0.0023) and BMI (CC: 21.5 [18.3; 24.8]; Ct: 24.9 [23; 25.8]; p = 0.0021) compared to controls. Cytokines detected in the CSF were MCP-1, VEGF, IL-8, IP-10, and MIP-1ß. Higher concentrations of MCP-1 were found in cancer patients (CSC: 571.2 ± 105.8; CC: 399.5 ± 65.9; Ct: 1477 ± 0.1; p < 0.0001), along with lower levels of MIP-1ß (CC: 4345 [3060; 7353]) and VEGF (CC: 48.3 ± 2.0; CWC: 49.8 ± 3.8; Ct: 64.8 ± 3.2; p < 0.0001). CONCLUSIONS: The level of mental impairment (mood, anxiety, and cognitive deficits) correlated with cancer-associated and cachexia-associated inflammation, weight loss, low BMI, elevated C-reactive protein (CRP), leukocytosis, lymphopenia, anemia, hypoalbuminemia, and low scores on the QLQ-C30 questionnaire (Global Health Status, Functional Scale, Symptom Scale). The CC group exhibited a higher prevalence of depression/anxiety, a stronger correlation between depression and inflammation, and greater cognitive impairment in attention, reasoning, and language, alongside lower average educational attainment. The low concentration of certain cytokines in the CSF combined with elevated systemic CRP in cancer and cachexia, associated with mental disorders, presents a paradox that requires further investigation. Higher concentrations of the cytokine MCP-1 in cancer patient groups indicated a positive correlation with the preservation of language abilities in these patients.
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Background: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disorder marked by pathogenic variants in the MEN1 tumor suppressor gene, leading to tumors in the parathyroid glands, pancreas, and pituitary. The occurrence of ACTH-producing pancreatic neuroendocrine carcinoma is exceedingly rare in MEN1. Case presentation: This report details a Colombian family harboring a novel MEN1 variant identified through genetic screening initiated by the index case. Affected family members exhibited primary hyperparathyroidism (PHPT) symptoms from their 20s to 50s. Uniquely, the index case developed an ACTH-secreting pancreatic neuroendocrine carcinoma, a rarity in MEN1 syndromes. Proactive screening enabled the early detection of pituitary neuroendocrine tumors (PitNETs) as microadenomas in two carriers, with subsequent surgical or pharmacological intervention based on the clinical presentation. Conclusion: Our findings underscore the significance of cascade screening in facilitating the early diagnosis and individualized treatment of MEN1, contributing to better patient outcomes. Additionally, this study brings to light a novel presentation of ACTH-producing pancreatic neuroendocrine carcinoma within the MEN1 spectrum, expanding our understanding of the disease's manifestations.
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Hormônio Adrenocorticotrópico , Carcinoma Neuroendócrino , Neoplasia Endócrina Múltipla Tipo 1 , Neoplasias Pancreáticas , Linhagem , Humanos , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/diagnóstico , Masculino , Carcinoma Neuroendócrino/genética , Carcinoma Neuroendócrino/patologia , Colômbia , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasia Endócrina Múltipla Tipo 1/complicações , Feminino , Pessoa de Meia-Idade , Seguimentos , Hormônio Adrenocorticotrópico/sangue , Hormônio Adrenocorticotrópico/metabolismo , Adulto , Proteínas Proto-Oncogênicas/genéticaRESUMO
OBJECTIVE: This systematic review and meta-analysis aimed to compare the risk of recurrence and cancer progression after surgical treatment for oral potentially malignant disorders (OPMD) and precancerous lesions in different anatomical sites. MATERIALS AND METHODS: A comprehensive search was conducted in nine databases and grey literature. We included randomized controlled trials assessing surgical treatment efficacy for OPMD and precancerous lesions of cervical, vaginal, anal, and penile sites. Excision or ablation surgical treatments were considered. RESULTS: Overall, 12 studies met the eligibility criteria for oral leukoplakia (OL), proliferative verrucous leukoplakia, cervical intraepithelial neoplasia (CIN), vaginal intraepithelial neoplasia, and anal intraepithelial neoplasia (AIN). In qualitative analysis of surgical protocols, the lack of margin description impacts the clinical outcomes of OL and AIN, and the ablative protocols were heterogeneous in both OPMD and precancerous lesions. No significant difference in OL (risk ratio 0.82 [95% CI: 0.59-1.15]) and CIN (risk ratio 0.31 [95% CI: 0.09-1.09]) for recurrence was observed when cold-knife was compared with ablative protocols. OL exhibited higher recurrence and cancer progression rates compared to CIN and AIN. CONCLUSION: There is no difference in recurrence risk post-surgical treatment for OL and CIN. Surgical protocols for oral leukoplakia and CIN/AIN lack standardized approaches.
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Cancer, the second leading global cause of death, impacts both physically and emotionally. Conventional treatments such as surgeries, chemotherapy, and radiotherapy have adverse effects, driving the need for more precise approaches. Precision medicine enables more targeted treatments. Genetic mapping, alongside other molecular biology approaches, identifies specific genes, contributing to accurate prognoses. The review addresses, in clinical use, a molecular perspective on treatment. Biomarkers like alpha-fetoprotein, beta-human chorionic gonadotropin, 5-hydroxyindoleacetic acid, programmed death-1, and cytotoxic T lymphocyte-associated protein 4 are explored, providing valuable information. Bioinformatics, with an emphasis on artificial intelligence, revolutionizes the analysis of biological data, offering more accurate diagnoses. Techniques like liquid biopsy are emphasized for early detection. Precision medicine guides therapeutic strategies based on the molecular characteristics of the tumor, as evidenced in the molecular subtypes of breast cancer. Classifications allow personalized treatments, highlighting the role of trastuzumab and endocrine therapies. Despite the benefits, challenges persist, including high costs, tumor heterogeneity, and ethical issues. Overcoming obstacles requires collaboration, ensuring that advances in molecular biology translate into accessible benefits for all.
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Background: The current study aimed to determine the overall survival (OS) rates of patients diagnosed with pediatric gliomas in Brazil, accounting for the influence of age, treatment modalities, and tumor site, using a population-based national database. Materials and methods: Patients diagnosed with pediatric gliomas of central nervous system (CNS) from 1999-2020 were identified from The Fundação Oncocentro de São Paulo public database. The Kaplan-Meier and the log-rank test were used for survival analysis. Results: A total of 1296 patients were included. The most common histologic tumor types were glioblastomas (38.27%; n = 496), pilocytic astrocytoma (32.87%; n = 426), and astrocytoma grade II (20.76%; n = 269). A total of 379 (29.24%) had brainstem tumors. The mean follow-up was 135 months [95% confidence interval (CI) 128-142\. The 1-year, 3-year 5-year OS for pilocytic astrocytoma were 93.72%, 89.98%, and 88.97%; for grade II gliomas, 80.36%, 71.89%, and 68.60%; for grade III gliomas, 53.72%; 31.87%, and 28.33%; and for glioblastoma, 52.90%, 28.76%, 25.20%, respectively. Brainstem tumors had the worse OS compared to no brainstem tumors (p = 0.001). For high-grade glioma (grade III/IV), excluding brainstem tumors (n = 570), young patients had greater median OS (0 to 3 years:22 months; 4 to 18 years:13 months; p = 0.005). Regarding the treatment modalities, combined treatments were associated with higher median survival compared to less intensive therapy (surgery: 11 months; surgery and chemotherapy: 16 months; surgery, radiotherapy, and chemotherapy: 20 months; p = 0.005). Conclusion: In our cohort, low-grade gliomas had favorable prognoses and outcomes. Patients diagnosed with glioblastomas and brainstem gliomas had the worst OS. For high-grade gliomas, undergoing treatment de-intensification in the Brazilian pediatric population is associated with worse survival.
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Abstract Introduction: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant inherited disease with an estimated prevalence of 2-10:100 000. The main locations of tumors are parathyroid glands (HPT), gas troenteropancreatic tract (GEPT), and anterior pituitary gland (PT). The aim of our investigation was to describe the phe notype and genotype of Argentinian patients with MEN1. Methods: A total of 68 index patients diagnosed with at least two of the three main tumors or one tumor and a relative with MEN1, and 84 first-degree relatives were studied. We sequenced the coding region (exons 2-10); the promoter, exon 1; and the flanking intronic regions of the MEN1 gene, following the Sanger method. We used MLPA in index patients without mutation. Results: Prevalence of tumors: HPT 87.5%, GEPT 49% (p< 0.001). No statistical differences in the prevalence of HPT vs. PT (68%). Prevalence of pathogenic variants: 90% in familial cases and 51% in sporadic cases. Of the different 36 pathogenic variants, 13 (36.2%) were frameshift micro-rearrangement, 8 (22.2%) were mis sense, 9 (25%) were nonsense, 3 (8.3%) were mutations in splicing sites, 2 (5.5%) were large deletions and, 1 in-frame micro-rearrangement. We found 7 novel pathogenic variants. Thirty-nine percent (n = 33) of first-degree relatives of 23 families were found to be mutation carriers. Conclusion: The phenotype and genotype of Argen tinian patients was similar to other MEN1 populations. A high frequency of PT and the identification of seven novel mutations are underscored.
Resumen Introducción: La neoplasia endocrina múltiple tipo 1 (NEM1) es una enfermedad hereditaria autosómica dominante con una prevalencia estimada de 2-10:100 000. Las localizaciones principales de los tumores son glándulas paratiroides (HPT), tracto gastroenteropan creático (TGEP) y glándula pituitaria (TP). El objetivo de nuestra investigación fue describir el fenotipo y genotipo de pacientes argentinos con NEM1. Métodos: Estudiamos 68 casos índices diagnostica dos por presentar al menos dos de los tres tumores principales, o un tumor y un pariente con NEM1, y 84 familiares de primer grado. Secuenciamos la región codificante (exones 2-10); el promotor, exón 1; y las re giones intrónicas flanqueantes del gen MEN1 siguiendo el método de Sanger. Utilizamos MLPA en pacientes índice sin mutación. Resultados: Prevalencia de tumores: HPT 87.5%, TGEP 49% (p < 0.001), sin diferencias estadísticas entre las prevalencias de HPT vs TP (68%). Prevalencia de variantes patogénicas: 90% en casos familiares y 51% en esporádi cos. Hallamos 36 variantes patogénicas, 7 (20%) fueron noveles. Fueron 13 (36.2%) microarreglos con cambio en el marco de lectura, 9 (25%) variantes sin sentido, 8 (22.2%) con cambio de sentido, 3 (8.3%) en sitio de unión de empalme, 2 (5.5%) grandes deleciones y 1 microarre glo sin cambio en el marco de lectura. El 39 % (n = 33) de los parientes de primer grado en 23 familias fueron portadores de mutaciones. Conclusión: El fenotipo y genotipo de los pacientes argentinos con NEM1 fue similar al de otras poblaciones. Destacamos una alta frecuencia de TP y de variaciones patogénicas noveles.
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OBJECTIVE: Histopathological grading of oral epithelial dysplasia (OED) is the current standard for stratifying cancer progression risk but is associated with subjectivity and variability. This problem is not commonly seen regarding the grading of epithelial dysplasia in other sites. This systematic review aims to compare grading systems for oral, anal, penile, and cervical epithelial dysplasia to determine their predictive accuracy for recurrence and malignant transformation (MT) outcomes. METHODS: The review protocol was registered in PROSPERO (CRD42023403035) and was reported according to the PRISMA checklist. A comprehensive search was performed in the main databases and gray literature. The risk of bias in individual studies was analyzed using the Joanna Briggs Institute checklist for each study design. RESULTS: Forty-six studies were deemed eligible and included in this systematic review, of which 45 were included in the quantitative analysis. Meta-analysis revealed that the binary system demonstrated a higher predictive ability for MT/recurrence of OED compared to multilevel systems. Higher predictive accuracy of MT was also observed for binary grading systems in anal intraepithelial neoplasia. CONCLUSIONS: No significant difference was found between the current grading systems of epithelial dysplasia in different body parts. However, binary grading systems have shown better clinical outcomes.
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OBJECTIVE: To describe the clinical and pathological characteristics of a neoformation suggestive of myxosarcoma in a cat's eyelid. ANIMAL STUDIED: An 11-year-old mixed-breed castrated female cat presented with a nodule on the lower eyelid approximately 1.6 cm in diameter, multilobulated, non-ulcerated, soft, and adhered to both the skin and conjunctiva of the lower eyelid. PROCEDURES: The incisional biopsy revealed findings suggestive of a peripheral nerve sheath tumor. After performing an exenteration of the right eyeball to ensure a safe surgical margin, the tissue samples were sent for histopathological analysis and later for immunohistochemistry. RESULTS: Microscopic evaluation classified the mass as a grade-I mesenchymal neoplasm, suggesting myxosarcoma and malignant peripheral nerve sheath tumor as differential diagnoses. An immunohistochemical examination was carried out to differentiate the neoplasm. Once tumors of neural origin were excluded, the diagnosis of myxosarcoma was indicated as the most likely. CONCLUSION: We report a presumed case of eyelid myxosarcoma in a cat, highlighting its relevance in the differential diagnosis in the evaluation of eyelid and conjunctival neoplasms in cats.
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OBJECTIVE: To examine the relationship between the age-adjusted Charlson comorbidity index (A-CCI) with body composition and overall survival in patients newly diagnosed with colorectal cancer (CRC). RESEARCH METHODS AND PROCEDURES: In this cohort study, patients (≥ 18 years old) with CRC were followed for 36 months. Computed tomography images of the third lumbar were analyzed to determine body composition, including skeletal muscle area (SMA), skeletal muscle index (SMI), skeletal muscle radiodensity (SMD), visceral adipose tissue (VAT), and subcutaneous adipose tissue (SAT). Phenotypes based on comorbidity burden assessed by A-CCI and body composition parameters were established. RESULTS: A total of 436 participants were included, 50% male, with a mean age of 61 ± 13.2 years. Approximately half of the patients (50.4%) had no comorbidity, and the A-CCI median score was 4 (interquartile range: 3-6). A higher A-CCI score was a risk factor for 36-month mortality (HR = 3.59, 95% CI = 2.17-5.95). Low SMA and low SMD were associated with a higher A-CCI. All abnormal phenotypes (high A-CCI and low SMA; high A-CCI and low SMD; high A-CCI and high VAT) were independently associated with higher 36-month mortality hazard (adjusted HR 5.12, 95% CI 2.73-9.57; adjusted HR 4.58, 95% CI 2.37-8.85; and adjusted HR 2.36, 95% CI 1.07-5.22, respectively). CONCLUSION: The coexistence of comorbidity burden and abnormal body composition phenotypes, such as alterations in muscle or fat compartments, may pose an additional risk of mortality in patients newly diagnosed with CRC. Early assessment and management of these phenotypes could be crucial in optimizing outcomes in such patients.
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Composição Corporal , Neoplasias Colorretais , Comorbidade , Humanos , Masculino , Neoplasias Colorretais/mortalidade , Neoplasias Colorretais/patologia , Pessoa de Meia-Idade , Feminino , Idoso , Estudos de Coortes , Fatores de Risco , Tomografia Computadorizada por Raios X/métodos , Fatores EtáriosRESUMO
This study aimed to describe the prevalence of high-risk human papillomavirus (HR-HPV) types in the anal canal in a cohort of people living with HIV (PLWHIV) with a history of malignancy. SETTING: Referral tertiary care hospital for adult patients with cancer. METHODS: We reviewed data of patients from the AIDS Cancer Clinic on antiretroviral therapy in chronic control who were consecutively referred for high-resolution anoscopy (HRA), where they underwent anal evaluation, collection of specimens for anal cytology and anal human papillomavirus (HPV) followed by HRA with directed biopsy if needed. RESULTS: A total of 155 patients were included; 149 (96.1%) were men, all of them men who have sex with men (MSM); the median age was 39 (IQR 32-47) years; 105 (67.7%) with Kaposi sarcoma, 40 (25.8%) with non-Hodgkin lymphoma and 10 (6.4%) with other neoplasms; only 7 (4.5%) had active cancer. The prevalence of HR-HPV infection was 89% (n=138) (95% CI 83-93) with at least one HR-HPV infection, and 62% (96) had coinfection with at least two types; the median HR-HPV types of coinfection were 3 (IQR 2-4). The number of patients infected with HPV 16 was 64 (41.3%, 95% CI 33.8-49.3), HPV 18 was 74 (47.7%, 95% CI 39.9-55.7) and with both 35 (22.6%). Some 59 patients (38%) had high-grade squamous intraepithelial lesions (HSIL) and 49 (31.6%) had low-grade squamous intraepithelial lesions (LSIL). The prevalence of HR-HPV and HSIL among patients aged ≤35 and >35 years was the same. CONCLUSIONS: In this cohort of PLWHIV with a history of malignancy we found a high prevalence of HR-HPV 16 and 18 and anal HSIL, even in persons aged ≤35 years. These data highlight the importance of anal cancer screening in PLWHIV and history of malignancy.
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Canal Anal , Neoplasias do Ânus , Infecções por HIV , Infecções por Papillomavirus , Humanos , Masculino , Adulto , Infecções por Papillomavirus/epidemiologia , Infecções por Papillomavirus/virologia , Infecções por Papillomavirus/complicações , Pessoa de Meia-Idade , Prevalência , Infecções por HIV/complicações , Infecções por HIV/epidemiologia , Infecções por HIV/virologia , Feminino , Canal Anal/virologia , Canal Anal/patologia , Neoplasias do Ânus/virologia , Neoplasias do Ânus/epidemiologia , Papillomaviridae/isolamento & purificação , Papillomaviridae/genética , Homossexualidade Masculina/estatística & dados numéricos , Centros de Atenção Terciária , Papillomavirus HumanoRESUMO
Presentación del caso. Se trata de una mujer de 32 años quien consultó por dolor abdominal en el epigastrio no asociado a las comidas, tenía el antecedente de una pancreatectomía distal con preservación de bazo debido a un tumor en la cola del páncreas, cinco años previos. En el examen físico no presentó ninguna anormalidad y durante su abordaje se realizaron estudios de imagen. Intervención terapéutica. La tomografía axial computarizada evidenció una lesión en el segmento lateral izquierdo del hígado con características sugestivas de metástasis debido a su antecedente quirúrgico. Los exámenes de laboratorio y marcadores tumorales se encontraron dentro de límites normales. Se evaluó en conferencia multidisciplinaria y se recomendó un abordaje quirúrgico. Se realizó una hepatectomía izquierda con una evolución posquirúrgica sin complicaciones. Evolución clínica. Luego de seis meses posoperatorios, se encontraba sin evidencia de enfermedad activa o residual
Case presentation. A 32-year-old woman consulted for abdominal pain in the epigastrium not associated with meals. She had a history of distal pancreatectomy with spleen preservation due to a tumor in the tail of the pancreas five years earlier. Physical examination showed no abnormalities and imaging studies were performed during his approach. Treatment. Computed axial tomography revealed a lesion in the left lateral segment of the liver with characteristics suggestive of metastasis due to his surgical history. Laboratory tests and tumor markers were within normal limits. It was evaluated in a multidisciplinary conference, and a surgical approach was recommended. A left hepatectomy was performed with an uncomplicated postoperative evolution. Outcome. Six months postoperatively, there was no evidence of active or residual disease