RESUMEN
Metastases in the oral and maxillofacial region, particularly in soft tissues, are exceedingly rare. Such metastases can present as swelling in older individuals, especially in the tongue and gingiva. Furthermore, colorectal metastases at this site are commonly found in the mandible and gingiva and usually share the same morphology as the primary tumor. Herein, we report the case of a 61-year-old woman with a metastatic nodule in the tongue covered by normal mucosa. The clinical, histopathological, and immunohistochemical findings were essential for the final diagnosis of colorectal metastasis, consistent with adenocarcinoma with mucinous differentiation and intestinal phenotype. Metastases of colorectal adenocarcinoma to the tongue are rare but should be included in the differential diagnosis of nodular lesions at this site. The diagnosis can therefore be made based on meticulous clinical and histopathological examination complemented by immunohistochemistry.
Asunto(s)
Adenocarcinoma Mucinoso , Neoplasias Colorrectales , Neoplasias de la Lengua , Humanos , Femenino , Persona de Mediana Edad , Adenocarcinoma Mucinoso/patología , Adenocarcinoma Mucinoso/secundario , Neoplasias Colorrectales/patología , Neoplasias de la Lengua/patología , Biomarcadores de Tumor/análisisRESUMEN
OBJECTIVE: This study was carried out to investigate the differentiation of mucinous borderline ovarian tumor from mucinous ovarian carcinoma using magnetic resonance imaging. METHODS: We evaluated 77 women patients who underwent abdominal magnetic resonance imaging due to pelvic mass. magnetic resonance imaging was reviewed by an experienced radiologist. A total of 70 women patients were included in the study. The magnetic resonance imaging features were retrospectively evaluated and compared between the two pathologies. RESULTS: There was no difference between the two groups in terms of maximum tumor size. Age at diagnosis was 56.29±11.92 in the mucinous ovarian carcinoma group and 44.74±13.60 in the mucinous borderline ovarian tumor group (p<0.05). A significant difference was found between the two groups, and it was observed that mucinous borderline ovarian tumors appeared in the younger age group compared to mucinous ovarian carcinomas. Presence of ascites, peritoneal dissemination, lymphadenopathy, and mural nodules was found significantly more frequently in mucinous ovarian carcinomas than in mucinous borderline ovarian tumors. Honeycomb appearance was found more frequently in mucinous borderline ovarian tumor patients than in mucinous ovarian carcinoma patients. CONCLUSION: magnetic resonance imaging findings of these two pathologies overlapped considerably. Compared with mucinous borderline ovarian tumors, mucinous ovarian carcinomas frequently had mural nodules larger than 5 mm, larger tumor size, peritoneal dissemination, and abnormal ascites.
Asunto(s)
Adenocarcinoma Mucinoso , Neoplasias Ováricas , Humanos , Femenino , Ascitis , Estudios Retrospectivos , Neoplasias Ováricas/diagnóstico por imagen , Neoplasias Ováricas/patología , Adenocarcinoma Mucinoso/diagnóstico por imagen , Adenocarcinoma Mucinoso/patología , Carcinoma Epitelial de Ovario , Imagen por Resonancia MagnéticaRESUMEN
BACKGROUND: Adenocarcinomas of the appendix are rare cancers for which no National Comprehensive Cancer Network guidelines exist, and for patients who undergo resection with curative intent, there is a paucity of data on prognostic factors affecting long-term cancer-specific survival. We aimed to compare the cancer-specific survival outcomes in adult patients with appendiceal non-mucinous adenocarcinoma undergoing either local resection versus right hemicolectomy. METHODS: This was a retrospective study from the National Cancer Institute Surveillance, Epidemiology, and End Results of patients who underwent curative resection over a 15-year period (2004-2019) for primary appendiceal adenocarcinoma. Out of 16,699 patients, 14,945 were excluded (exclusion criteria were non-adenocarcinoma histological types and patients with regional or distant metastasis as per National Cancer Institute Surveillance, Epidemiology, and End Results stage). Effects of factors (age, race, tumor biology [mucinous versus non-mucinous tumors], the extent of resection of the primary lesion, and lymph nodes) on cancer-specific long-term survival were studied. Survival analysis was performed using the Kaplan-Meier method. Survival outcomes were reported as mean survival (months). RESULTS: Of 1,754 patients, 827 (47.1%) were women, and 927 (52.1%) were men. The mean age in years (± standard deviation) was 62.43 ± 14.3. The racial distribution was as follows: Black 237 (13.5%), White 1,398 (79.7%), and Other 119 (6.8%). A total of 771 (44.6%) underwent local resection (appendectomy or segmental resection of colon without lymph node resection), and 983 (55.4%) underwent hemicolectomy with lymph node resection. Favorable survival prognosticators were age <50 years, White race, and well-differentiated histology. Patients with mucinous tumors experienced better survival. Patients who underwent right hemicolectomy with lymph node resection experienced better survival compared with those who had an appendectomy or segmental colonic resection for non-mucinous tumors rather than mucinous tumors. CONCLUSION: We report novel demographic, tumor-related, and operative prognostic factors impacting long-term cancer-specific survival in patients who undergo resection for appendiceal adenocarcinoma. The extent of resection of the primary lesion with draining lymph nodes determines long-term cancer-specific survival in non-mucinous appendiceal adenocarcinomas.
Asunto(s)
Adenocarcinoma Mucinoso , Adenocarcinoma , Neoplasias del Apéndice , Masculino , Adulto , Humanos , Femenino , Persona de Mediana Edad , Estudios Retrospectivos , Adenocarcinoma Mucinoso/patología , Análisis de Supervivencia , Colectomía/métodos , Neoplasias del Apéndice/epidemiología , Neoplasias del Apéndice/cirugíaRESUMEN
INTRODUCCIÓN: Aproximadamente un 4% de mujeres embarazadas presentan tumoraciones anexiales en el primer trimestre de gestación, siendo la mayoría quistes anexiales simples. Solo el 1,5% persisten tras el primer trimestre y en torno al 0,9% son malignos. CASO CLÍNICO: Paciente de 31 años que consultó en urgencias por sangrado y amenorrea de 5 semanas. La ecografía transvaginal evidenció un saco gestacional intraútero y una tumoración anexial izquierda compleja de 68 mm, multilocular, sólida, de ecogenicidad mixta, con septos gruesos y un área sólida vascularizada de 40 mm, sospechosa de neoplasia de ovario. Se realizó manejo quirúrgico conservador mediante anexectomía bilateral laparoscópica en la octava semana de gestación. El diagnóstico fue de adenocarcinoma mucinoso infiltrante bien diferenciado en ovario derecho, coexistente con tumor mucinoso borderline en ovario izquierdo (etapa IC FIGO). El embarazo cursó con normalidad, a excepción de feto pequeño para la edad gestacional en la semana 39. Se finalizó la gestación en la semana 40 mediante parto vaginal. Debido al deseo de la paciente, la cirugía se realizó en el primer trimestre de embarazo en lugar de en el segundo como se recomienda. La cirugía se completó meses después del parto, con histerectomía y apendicectomía laparoscópica. DISCUSIÓN: El cáncer de ovario es el segundo tumor ginecológico más diagnosticado durante el embarazo. Suele diagnosticarse en el primer trimestre debido al cribado ecográfico gestacional. Ocurre en mujeres con baja paridad y en sus últimos años de edad reproductiva. Esto podría verse reflejado en un aumento de su incidencia debido al retraso de la edad materna al primer embarazo. Normalmente se diagnostica en etapa I, siendo entonces la supervivencia superior al 90% a los 5 años. En etapas iniciales en mujeres embarazadas, la laparoscopia es tan válida como la laparotomía.
INTRODUCTION: Approximately 4% of pregnant women present adnexal tumors in the first trimester of gestation, the majority being simple adnexal cysts. Only 1.5% persist after the first trimester and around 0.9% are malignant. CASE REPORT: 31-year-old patient who came to the emergency room because of spotting and 5-week amenorrhea. A transvaginal ultrasound revealed an intrauterine gestational sac and a 69 mm complex multiocular-solid left adnexal tumor, with thick septa and a solid vascularized area of 40 mm, with suspicion of ovarian neoplasia. Conservative surgical management was performed through laparoscopic bilateral salpingo-oophorectomy in eighth week of gestation. The diagnosis was a well-differentiated infiltrating mucinous adenocarcinoma in the right ovary, and a coexisting borderline mucinous tumor in the left ovary (FIGO stage IC). The pregnancy proceeded normally except for a small for gestational age fetus at week 39 and pregnancy was completed at week 40 by vaginal delivery. Due to the patients wishes, the surgery was performed in the 1st trimester of pregnancy instead in the 2nd as is recommended. Final surgery was completed after giving birth, with laparoscopic hysterectomy and appendectomy. DISCUSSION: Ovarian cancer is the second most diagnosed gynecological tumor during pregnancy. It is usually diagnosed during the first trimester with gestational ultrasound screening. It occurs in women with low parity and in their later years of reproductive age. This could be reflected in an increase in its incidence due to the delay in the age of first pregnancy. Normally it is diagnosed in stage I, when the survival rate is superior to 90% after 5 years. In early stages, laparoscopic surgery in pregnant women is as valid as laparotomy.
Asunto(s)
Humanos , Femenino , Embarazo , Adulto , Neoplasias Ováricas/cirugía , Complicaciones Neoplásicas del Embarazo , Adenocarcinoma Mucinoso/cirugía , Neoplasias Primarias Múltiples/cirugía , Neoplasias Ováricas/patología , Neoplasias Ováricas/diagnóstico por imagen , Primer Trimestre del Embarazo , Laparoscopía , Adenocarcinoma Mucinoso/patología , Adenocarcinoma Mucinoso/diagnóstico por imagen , Histerectomía/métodos , Neoplasias Primarias Múltiples/patologíaRESUMEN
OBJECTIVES: Mucinous adenocarcinoma arising in unresected congenital pulmonary airway malformation (CPAM) is rare. Underlying driver mutations in addition to KRAS gain-of-function mutations in this setting and the long-term outcomes of these patients are unknown. METHODS: We report a case of metastatic mucinous adenocarcinoma harboring both KRAS and GNAS mutations arising in a type 1 CPAM of a 14-year-old male. A literature review was performed. RESULTS: Next-generation sequencing revealed identical KRAS (G12V) mutations in both the CPAM and metastatic adenocarcinoma and a missense mutation in the GNAS (R201C) gene in the metastatic adenocarcinoma only. Median survival was 23 and 4 years for patients with localized (no or limited spread within the same lobe of CPAM) and distant involvement (spread to any different lobe of CPAM) of mucinous cells, respectively (95% confidence interval, 23-23 and 1.5-22 years, respectively; P = .017). CONCLUSIONS: Mucinous cell proliferation associated with type 1 CPAM has exceptionally good long-term outcomes if confined within the same lobe of CPAM. A second oncogenic mutation in the GNAS gene may be necessary for progression to malignancy and distant spread.
Asunto(s)
Adenocarcinoma Mucinoso/patología , Cromograninas/genética , Malformación Adenomatoide Quística Congénita del Pulmón/patología , Subunidades alfa de la Proteína de Unión al GTP Gs/genética , Neoplasias Pulmonares/patología , Proteínas Proto-Oncogénicas p21(ras)/genética , Adenocarcinoma del Pulmón/genética , Adenocarcinoma del Pulmón/patología , Adenocarcinoma Mucinoso/genética , Adolescente , Malformación Adenomatoide Quística Congénita del Pulmón/genética , Humanos , Neoplasias Pulmonares/genética , Masculino , MutaciónRESUMEN
OBJECTIVE. The purpose of this study was to evaluate whether FDG PET/MRI can be used to differentiate the mucinous from the nonmucinous components of primary rectal tumors and to compare the glycolytic metabolism on PET with tumor cellularity on DWI in both components. SUBJECTS AND METHODS. Ninety-nine patients who underwent FDG PET/MRI for staging of primary rectal cancer were included in this prospective analysis. MRI depicted the mucin component through the tumor volume. Separate volumes of interest were drawn on both mucinous and nonmucinous components and propagated to PET and apparent diffusion coefficient (ADC) mapping. Maximum and mean standardized uptake values (SUVmax, SUVmean) and maximum, mean, and minimum ADC values (ADCmax, ADCmean, ADCmin) were recorded and compared between areas with mucinous and nonmucinous components. Whole-body PET/MRI was also used to evaluate for the presence of distant metastases. Nonparametric testing was used to compare the two groups of patients: those with tumors with a mucinous component and those with tumors without a mucinous component. Logistic regression analysis was performed to calculate the association risk between mucinous component and metastatic disease. RESULTS. Seventeen patients (17.2%) had a mucinous component within the tumor on T2-weighted MRI. Most of these patients had advanced disease, the mucinous component tumors being in significantly higher T categories than the tumors without a mucinous component (88.2% vs 61.0%; p = 0.032). SUVmax (7.4 vs 16.7; p = 0.002) and SUVmean (5.4 vs 13.4; p = 0.001) were significantly lower in tumors with a mucinous component than in those without a mucinous component. Tumor ADC measurements were not different between tumors with and those without a mucinous component (ADCmean, 1.4 vs 1.6; p = 0.361). There was no association between presence of a mucinous component within the primary rectal tumor and presence of synchronous metastases (odds ratio, 1.1 [0.4-3.0]; p = 0.904). Moreover, the occurrence of metastases in patients with mucinous component tumors (7/17 [41.2%]) was not different from that in patients with tumors without a mucinous component (28/82 [34.1%]) (p = 0.887). CONCLUSION. PET/MRI can be used to differentiate the mucinous and nonmucinous components within primary rectal adenocarcinoma on the basis of metabolic status. The FDG uptake is significantly lower in the mucinous component, but tumor cellularity based on MRI and DWI findings is not. Despite being associated with a higher T category in the sample of patients in this study, the presence of a mucinous component seems not to be associated with increased risk of synchronous metastases.
Asunto(s)
Adenocarcinoma Mucinoso/diagnóstico por imagen , Imagen de Difusión por Resonancia Magnética , Tomografía de Emisión de Positrones , Neoplasias del Recto/diagnóstico por imagen , Adenocarcinoma Mucinoso/metabolismo , Adenocarcinoma Mucinoso/patología , Adulto , Anciano , Femenino , Fluorodesoxiglucosa F18 , Glucólisis , Humanos , Masculino , Persona de Mediana Edad , Imagen Multimodal , Estudios Prospectivos , Radiofármacos , Neoplasias del Recto/metabolismo , Neoplasias del Recto/patologíaRESUMEN
Mucinous adenocarcinoma of the appendix is a rare neoplasm with a low propensity for lymph node metastasis. The present case refers to an appendicular mucinous adenocarcinoma with inguinal lymph node metastasis. A 71-year-old woman underwent an appendectomy due to a clinical presentation of acute appendicitis. However, the histological examination of the surgical specimen revealed a mucinous adenocarcinoma of the appendix. After staging, the patient underwent a right hemicolectomy and was proposed for adjuvant chemotherapy. At the 3rd year of follow-up, inguinal lymphadenopathy was diagnosed, which biopsy confirmed inguinal node metastases from primary colorectal cancer, with areas of extracellular mucin. Restaging revealed liver and peritoneal metastasis, and the patient was proposed for palliative chemotherapy. Appendicular neoplasms, due to their rarity, represent a diagnostic and therapeutic challenge. This clinical case depicts an unusual metastasis pathway for an unusual neoplasm.
Asunto(s)
Masculino , Femenino , Anciano , Neoplasias del Apéndice/patología , Adenocarcinoma Mucinoso/patología , Metástasis Linfática/patología , Apendicectomía , Linfadenopatía/complicacionesRESUMEN
BACKGROUND AND OBJECTIVES: The management of ovarian cancer requires complex surgical and medical interventions. Specialized care is associated with superior outcomes in early and advanced stages. This study aimed to estimate the effect of hospital characteristics on the overall survival of women with epithelial ovarian cancer. METHODS: We established a cohort with data recorded by the Fundação Oncocentro de São Paulo cancer registry. We included 6111 women treated for ovarian cancer in the state of Sao Paulo from January 2000 to December 2018. From 76 hospitals analyzed, 7 were high volume (20 or more cases a year) and 69 low volume. Twenty-nine were teaching and 47 community hospitals. A 10-year survival was analyzed using the Kaplan-Meyer estimator and the Cox model. RESULTS: Fifty-two percent of the epithelial ovarian cancer patients were treated in high-volume hospitals. High-volume - (HR, 0.86; 95% CI, 0.8-0.92; P < .001) and teaching - (HR, 0.91; 95% CI, 0.85-0.99; P = .019) were hospital characteristics associated with low risk of death in 10 years. CONCLUSIONS: High-volume and teaching hospitals are associated with better overall survival in ovarian cancer. Our data suggest that both hospital characteristics are important indicators of good quality of care in ovarian cancer treatment.
Asunto(s)
Hospitales de Alto Volumen/estadística & datos numéricos , Hospitales de Enseñanza/estadística & datos numéricos , Neoplasias Ováricas/mortalidad , Adenocarcinoma de Células Claras/mortalidad , Adenocarcinoma de Células Claras/patología , Adenocarcinoma de Células Claras/cirugía , Adenocarcinoma Mucinoso/mortalidad , Adenocarcinoma Mucinoso/patología , Adenocarcinoma Mucinoso/cirugía , Cistadenocarcinoma Seroso/mortalidad , Cistadenocarcinoma Seroso/patología , Cistadenocarcinoma Seroso/cirugía , Neoplasias Endometriales/mortalidad , Neoplasias Endometriales/patología , Neoplasias Endometriales/cirugía , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Pronóstico , Estudios Retrospectivos , Tasa de SupervivenciaRESUMEN
Introduction: An appendiceal collision tumor is defined as the presence of histologically distinct types of tumors in the appendix without transition between them. Appendiceal tumors are rare, with epithelial neoplasms and neuroendocrine tumors being the most common. Objective: Report the case of woman with acute appendicitis and diagnosis of an appendiceal collision tumor. Case presentation: A 35 years old woman, who consulted for a 24 hours of continuous epigastric pain with migration to the right iliac fossa; the routine blood test showed leukocytosis with neutrophilia and an ultrasound scan abdomen demonstratedsigns in favor of acute appendicitis; a diagnosis of acute appendicitis and surgical treatment. The anatomopathological study and immunostaining revealed well-differentiated neuroendocrine neoplasia and low-grade mucinous epithelial neoplasia. A follow-up with postsurgical tumor markers was performed with normal results, in addition to computed tomography and postoperative colonoscopy without alterations. Discussion: Appendiceal collision tumor is infrequently. Generally the diagnosis is made with anatomopathological study and supposes great challenges for postoperative control because there are no guidelines to follow up. Conclusion: More research should be done in order to have recommendations for this disease. Conclusion: More research should be done in order to have recommendations for this disease.
Introducción: Se define a un tumor de colisión apendicular, como la presencia de dos tipos de tumores histológicamente distintos, dentro del apéndice sin transición entre ellos. Los tumores apendiculares son poco frecuentes, siendo las neoplasias epiteliales y los tumores neuroendocrinos los más comunes. Objetivo: Presentar el caso de una paciente con diagnóstico de tumor de colisión apendicular que se presentó como apendicitis aguda. Caso clínico: Mujer de 35 años de edad sin antecedentes patológicos que consultó por dolor epigástrico de 24 horas de evolución, con migración a fosa ilíaca derecha, de tipo continuo. El examen físico reveló un abdomen blando con defensa en fosa ilíaca derecha; el análisis de sangre mostró leucocitosis con neutrofilia y una ecografía en favor de apendicitis aguda. Se realizó apendicectomía mediante incisión de Mc Burney. El estudio anatomopatológico e inmunomarcación informó neoplasia neuroendocrina bien diferenciada y neoplasia epitelial mucinosa de bajo grado. Se realizó seguimiento con marcadores tumorales postquirúrgicos con resultados normales, además de tomografía computada y colonoscopia postquirúrgicos normales. Dsicusión: El tumor de colisión apendicular es muy poco frecuente. Generalmente el diagnóstico se realiza con el estudio anatomopatológico y plantea grandes desafíos para el control, ya que no existe consenso de cómo realizar el seguimiento postquirúrgico . Conclusión: Se debe investigar más al respecto para contar con recomendaciones de vigilancia para dicha enfermedad
Asunto(s)
Adenocarcinoma Mucinoso/diagnóstico , Neoplasias del Apéndice/diagnóstico , Apendicitis/diagnóstico , Tumores Neuroendocrinos/diagnóstico , Enfermedad Aguda , Adenocarcinoma Mucinoso/patología , Adenocarcinoma Mucinoso/cirugía , Adulto , Apendicectomía , Neoplasias del Apéndice/patología , Neoplasias del Apéndice/cirugía , Apendicitis/patología , Apendicitis/cirugía , Diagnóstico Diferencial , Femenino , Humanos , Tumores Neuroendocrinos/patología , Tumores Neuroendocrinos/cirugíaRESUMEN
Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.
Diversos fatores desencadeiam o desenvolvimento de mutações genéticas que são responsáveis por originar uma neoplasia. O meduloblastoma é uma neoplasia cerebelar maligna e invasiva que acomete crianças e adultos jovens. O carcinoma mucinoso é um tipo de câncer de mama especial por ser um subtipo atípico de carcinoma invasivo, que acomete com maior frequência mulheres de idade avançada e representa entre 1 a 7% do total de neoplasias mamárias. O caso relatado tem como objetivo mostrar a raridade da ocorrência do meduloblastoma desmoplásico e carcinoma mucinoso mamário em uma paciente jovem em um curto período de tempo, em diferentes sítios sem ligação anatômica direta e sem ocorrência de metástase. Inicialmente, esta paciente possuía um meduloblastoma desmoplásico e foi tratada com tumorectomia e radioterapia. Após 13 meses, a paciente foi diagnosticada com carcinoma mucinoso de mama, sendo submetida a mastectomia, quimioterapia adjuvante e atualmente está sendo tratada com endocrinoterapia. Concluímos, com base na característica metacrônica da neoplasia e características clínicas, que a paciente apresenta a síndrome de Li-Fraumeni, doença autossômica dominante com mutação do gene TP53, que é o principal gene envolvido nesta síndrome. Por não apresentar as características completas do fenótipo da síndrome, a paciente pode assim ser classificada como portadora de uma variante da síndorme de Li-Fraumeni ou síndrome do tipo Li-Fraumeni.
Asunto(s)
Síndrome de Li-Fraumeni/diagnóstico , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/genética , Adenocarcinoma Mucinoso/patología , Adulto , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Neoplasias Cerebelosas/diagnóstico , Neoplasias Cerebelosas/diagnóstico por imagen , Neoplasias Cerebelosas/genética , Neoplasias Cerebelosas/patología , Terapia Combinada , Diagnóstico Diferencial , Femenino , Humanos , Síndrome de Li-Fraumeni/genética , Imagen por Resonancia Magnética , Meduloblastoma/diagnóstico , Meduloblastoma/diagnóstico por imagen , Meduloblastoma/genética , Meduloblastoma/patología , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/genética , Neoplasias Primarias Múltiples/patologíaRESUMEN
Abstract Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.
Resumo Diversos fatores desencadeiam o desenvolvimento de mutações genéticas que são responsáveis por originar uma neoplasia. O meduloblastoma é uma neoplasia cerebelar maligna e invasiva que acomete crianças e adultos jovens. O carcinoma mucinoso é um tipo de câncer de mama especial por ser um subtipo atípico de carcinoma invasivo, que acomete com maior frequência mulheres de idade avançada e representa entre 1 a 7% do total de neoplasias mamárias. O caso relatado tem como objetivo mostrar a raridade da ocorrência do meduloblastoma desmoplásico e carcinoma mucinoso mamário em uma paciente jovem em um curto período de tempo, em diferentes sítios sem ligação anatômica direta e sem ocorrência de metástase. Inicialmente, esta paciente possuía um meduloblastoma desmoplásico e foi tratada com tumorectomia e radioterapia. Após 13 meses, a paciente foi diagnosticada com carcinoma mucinoso de mama, sendo submetida a mastectomia, quimioterapia adjuvante e atualmente está sendo tratada com endocrinoterapia. Concluímos, com base na característica metacrônica da neoplasia e características clínicas, que a paciente apresenta a síndrome de Li-Fraumeni, doença autossômica dominante com mutação do gene TP53, que é o principal gene envolvido nesta síndrome. Por não apresentar as características completas do fenótipo da síndrome, a paciente pode assim ser classificada como portadora de uma variante da síndorme de Li-Fraumeni ou síndrome do tipo Li-Fraumeni.
Asunto(s)
Humanos , Femenino , Adulto , Síndrome de Li-Fraumeni/diagnóstico , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Imagen por Resonancia Magnética , Neoplasias Cerebelosas/diagnóstico , Neoplasias Cerebelosas/genética , Neoplasias Cerebelosas/patología , Neoplasias Cerebelosas/diagnóstico por imagen , Síndrome de Li-Fraumeni/genética , Terapia Combinada , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/genética , Adenocarcinoma Mucinoso/patología , Diagnóstico Diferencial , Meduloblastoma/diagnóstico , Meduloblastoma/genética , Meduloblastoma/patología , Meduloblastoma/diagnóstico por imagen , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/genética , Neoplasias Primarias Múltiples/patologíaRESUMEN
Rectal adenocarcinoma with mucinous components is an uncommon type of rectal cancer with two distinct histologic subtypes: mucinous adenocarcinoma and signet-ring cell carcinoma. Mucin can also be identified as pattern of response after neoadjuvant treatment. On imaging modalities, mucin typically demonstrates high signal intensity on T2-weighted images, low attenuation on computed tomography, and may be negative on 18-fluorodeoxyglucose positron emission tomography. After neoadjuvant CRT, cellular and acellular mucin share similar imaging features, and differentiating them is currently the main challenge faced by radiologists. Radiologists should be aware of pros, cons, and limitations of each imaging modality in the primary staging and restaging to avoid misinterpretation of the radiological findings.
Asunto(s)
Adenocarcinoma Mucinoso/diagnóstico por imagen , Neoplasias del Recto/diagnóstico por imagen , Adenocarcinoma Mucinoso/patología , Adenocarcinoma Mucinoso/terapia , Quimioradioterapia , Humanos , Terapia Neoadyuvante , Estadificación de Neoplasias , Neoplasias del Recto/patología , Neoplasias del Recto/terapiaRESUMEN
PURPOSE: Emerging data have shown that patients with left-sided cancers have better survival than patients with right-sided cancers in terms of metastatic colorectal cancer. However, the available information and findings remain limited and contradictory in localized colorectal cancer. This study aimed to evaluate the clinical characteristics and prognosis of primary tumor location (PTL) in colorectal cancer. METHODS: Patients' diagnoses were identified using the Surveillance, Epidemiology, and End Result database between 2006 and 2015. The analyses were further stipulated to patients with primary cancer site, histology, and stage information. The correlations between PTL and overall survival (OS) were assessed. RESULTS: Compared with left-sided tumors, right-sided tumors were more likely to develop into T3 cancers (50.0% vs. 44.8%), T4 cancers (15.8% vs. 12.3%), mucinous or mucin-producing adenocarcinoma (10.8% vs. 5.0%), and signet ring cell carcinoma (1.4% vs. 0.7%), P < 0.01, respectively. Patients with right-sided tumors showed inferior OS (56.1% vs. 60.2%), and the hazard ratio was 1.224 (95% CI, 1.208-1.241, P < 0.001) in all stages. Stage-specific Cox regression analysis revealed that patients with right-sided tumors also showed inferior OS in every stage (respectively, P < 0.05) than left-sided tumors. CONCLUSIONS: This study demonstrated that the prognoses of patients with left-sided cancers were better than those of patients with right-sided cancers regardless of stage. PTL can be a prognosis factor in colorectal cancer. We encourage developing clinical and translational studies to elucidate the causative relationship between PTL and prognosis.
Asunto(s)
Neoplasias Colorrectales/mortalidad , Neoplasias Colorrectales/patología , Estadificación de Neoplasias , Adenocarcinoma Mucinoso/mortalidad , Adenocarcinoma Mucinoso/patología , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Células en Anillo de Sello/mortalidad , Carcinoma de Células en Anillo de Sello/patología , Femenino , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Pronóstico , Modelos de Riesgos Proporcionales , Programa de VERF , Factores Sexuales , Tasa de SupervivenciaRESUMEN
Se presenta el caso de una paciente mujer de 53 años procedente de Piura con un tiempo de enfermedad de 20 meses, caracterizado por dolor en sitio de herida quirúrgica por colecistectomía abierta realizada hace 3 años, asociado a presencia de una masa en dicha zona, posteriormente se absceda y comienza a drenar secreción alimentaria. Los estudios de imágenes revelaron una masa dependiente de colon transverso en contacto con estómago y pared abdominal que presentaba fistulas hacia piel. Dicha masa fue extraída durante la cirugía con resultado anatomopatológico de adenocarcinoma mucinoso de colon. El caso representó un reto diagnóstico para el equipo médico y en vista de las diversas manifestaciones clínicas del cáncer de colon, sugerimos mantenerlo presente como diagnóstico diferencial en cuadros de absceso de pared abdominal y fistulizaciones entéricas.
We present the case of a 53-year-old woman with a time of illness of 20 months, characterized by pain at the site of surgical intervention for opened cholecystectomy 3 years ago, associated with a presence of a mass in said area, with the following abscess formation and fistulization of food content. Imaging studies revealed a mass dependent of the transverse colon, in contact with stomach and abdominal wall and presenting fistulas to the skin. Said mass was extracted during surgery with anatomopathological result of mucinous colon adenocarcinoma. The case represented a diagnostic challenge for the medical team and in view of the variaty of clinical manifestations of colonic cancer, we suggest that it should be consider as a differential diagnosis in cases of abdominal wall abscess and enteric fistulas.
Asunto(s)
Femenino , Humanos , Persona de Mediana Edad , Neoplasias Gástricas/patología , Neoplasias del Colon/patología , Adenocarcinoma Mucinoso/patología , Pared Abdominal , Neoplasias Primarias Múltiples/patología , Neoplasias Gástricas/cirugía , Neoplasias Gástricas/complicaciones , Fístula Gástrica/etiología , Fístula Intestinal/etiología , Neoplasias del Colon/cirugía , Neoplasias del Colon/complicaciones , Fístula Cutánea/etiología , Adenocarcinoma Mucinoso/cirugía , Adenocarcinoma Mucinoso/complicaciones , Absceso Abdominal/etiología , Invasividad Neoplásica , Neoplasias Primarias Múltiples/cirugía , Neoplasias Primarias Múltiples/complicacionesRESUMEN
A 43-year-old man presented with two-month history of fatigue, weakness, paleness, rectal bleeding, sweating, and weight loss of 10 kg in the past one month. A complete blood count revealed anaemia. The patient underwent a right hemicolectomy. The microscopic examination revealed an adenosquamous carcinoma associated with a mucinous adenocarcinoma in a patient with microsatellite instability due to loss of MLH1 and PMS2 expression and retention of MSH2 and MSH6 expression in both the squamous and glandular components. We also observed an atypical immunohistochemical phenotype in the adenocarcinoma component showing CK7 expression and reduced CK20 and CDX2 expression.
Asunto(s)
Adenocarcinoma Mucinoso/patología , Carcinoma Adenoescamoso/patología , Neoplasias del Colon/patología , Inestabilidad de Microsatélites , Neoplasias Primarias Múltiples/patología , Adenocarcinoma Mucinoso/genética , Adulto , Carcinoma Adenoescamoso/genética , Neoplasias del Colon/genética , Humanos , Masculino , Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto/genética , Homólogo 1 de la Proteína MutL/genética , Neoplasias Primarias Múltiples/genéticaRESUMEN
Background: Chronic idiopathic inflammatory bowel disease (IBD) is a significant risk factor for the development of intestinal adenocarcinoma. The underlying molecular alterations in IBD-associated intestinal adenocarcinoma remain largely unknown. Methods: We compared the clinicopathologic and molecular features of 35 patients with 47 IBD-associated intestinal adenocarcinomas with a consecutive series of 451 patients with sporadic colorectal carcinoma identified at our institution and published data on sporadic colorectal carcinoma. Results: c-MYC amplification was the most frequent molecular alteration identified in 33% of IBD-associated intestinal adenocarcinoma that is a significantly higher frequency than in sporadic colorectal carcinoma (8%) (P = 0.0001). Compared to sporadic colorectal carcinoma, IBD-associated intestinal adenocarcinomas more frequently demonstrated mucinous differentiation (60% vs 25%, P < 0.001) and signet ring cell differentiation (28% vs 4%, P < 0.001). Mucinous and signet ring cell differentiation were significantly associated with the presence of c-MYC amplification (both with P < 0.05). HER2 positivity (11%), KRAS exon 2 or 3 mutation (10%), and IDH1 mutation (7%) were less commonly observed in IBD-associated intestinal adenocarcinoma. There was an association between poor survival and HER2 status with 3 of 4 patients having HER2-positive adenocarcinoma dead of disease at last clinical follow-up; however, no statistically significant survival effect was identified for any of the molecular alterations identified. Conclusions: We demonstrate that IBD-associated intestinal adenocarcinomas have a high frequency of c-MYC amplification that is associated with mucinous and signet ring cell differentiation. Many of the identified molecular alterations have potential therapeutic relevance, including HER2 amplification, IDH1 mutation, and low frequency KRAS mutation.
Asunto(s)
Adenocarcinoma Mucinoso/genética , Carcinoma de Células en Anillo de Sello/genética , Neoplasias Colorrectales/genética , Enfermedades Inflamatorias del Intestino/genética , Inestabilidad de Microsatélites , Adenocarcinoma Mucinoso/patología , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Células en Anillo de Sello/patología , Diferenciación Celular/genética , Neoplasias Colorrectales/patología , Análisis Mutacional de ADN , Femenino , Humanos , Enfermedades Inflamatorias del Intestino/complicaciones , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Modelos de Riesgos Proporcionales , Proteínas Proto-Oncogénicas c-myc/genética , Proteínas Proto-Oncogénicas p21(ras)/genética , Receptor ErbB-2/genéticaRESUMEN
INTRODUCTION: Pseudomyxoma peritonei (PMP) is a rare clinical condition, with an incidence of 1-2 cases per million, characterized by the dissemination of mucinous implants on the peritoneal surface and progressive gelatinous ascites. Although it usually presents an indolent behavior, its non-specific clinical presentation contributes to many cases remaining undiagnosed until a laparotomy is performed. With late diagnosis, performed after a long period of clinical deterioration and disease progression, it is common to find complications such as the formation of intestinal fistulas and obstruction. METHOD: Review of the medical record and search for references in the Medline, Lilacs, SciELO and MD Consult databases. RESULTS: There are rare case reports found in the literature demonstrating atypical PMP presentations. Our report is that of a 17-year-old adolescent with a sporadic tumor diagnosed in a primary site in the transverse colon, contrary to data commonly found in the literature that mention a more frequent occurrence in women in the fifth decade of life and with a primary site in the ovary and appendix. The development of mucinous adenocarcinoma is rare in the pediatric population, and topography in the transverse colon and non-familial sporadic pattern are unusual. CONCLUSION: The case reported not only raises awareness about the atypical presentations of the disease, but also emphasizes the use of imaging examinations for diagnosis, which has an important impact on prognosis and survival if performed timely.
Asunto(s)
Neoplasias Peritoneales/diagnóstico por imagen , Seudomixoma Peritoneal/diagnóstico por imagen , Adenocarcinoma Mucinoso/patología , Adolescente , Colon Transverso/patología , Resultado Fatal , Humanos , Imagen por Resonancia Magnética , Masculino , Neoplasias Peritoneales/patología , Neoplasias Peritoneales/terapia , Seudomixoma Peritoneal/patología , Seudomixoma Peritoneal/terapia , TomografíaRESUMEN
Summary Introduction: Pseudomyxoma peritonei (PMP) is a rare clinical condition, with an incidence of 1-2 cases per million, characterized by the dissemination of mucinous implants on the peritoneal surface and progressive gelatinous ascites. Although it usually presents an indolent behavior, its non-specific clinical presentation contributes to many cases remaining undiagnosed until a laparotomy is performed. With late diagnosis, performed after a long period of clinical deterioration and disease progression, it is common to find complications such as the formation of intestinal fistulas and obstruction. Method: Review of the medical record and search for references in the Medline, Lilacs, SciELO and MD Consult databases. Results: There are rare case reports found in the literature demonstrating atypical PMP presentations. Our report is that of a 17-year-old adolescent with a sporadic tumor diagnosed in a primary site in the transverse colon, contrary to data commonly found in the literature that mention a more frequent occurrence in women in the fifth decade of life and with a primary site in the ovary and appendix. The development of mucinous adenocarcinoma is rare in the pediatric population, and topography in the transverse colon and non-familial sporadic pattern are unusual. Conclusion: The case reported not only raises awareness about the atypical presentations of the disease, but also emphasizes the use of imaging examinations for diagnosis, which has an important impact on prognosis and survival if performed timely.
Resumo Introdução: O pseudomixoma peritoneal (PMP) é uma condição clinica rara, com incidência de 1-2 casos por milhão, caracterizada pela disseminação de implantes de natureza mucinosa pela superfície peritoneal e acúmulo progressivo de ascite gelatinosa. Embora apresente geralmente um comportamento indolente, a apresentação clínica inespecífica contribui para que muitos casos permaneçam sem diagnóstico até a realização de laparotomia. Com o diagnóstico tardio, realizado após um longo período de deterioração clínica e progressão de doença, é comum encontrar complicações, como a formação de fístulas e obstruções intestinais. Método: Revisão do prontuário médico e pesquisa bibliográfica nas bases de dados Medline, Lilacs, SciELO e MD Consult. Resultados: São raros os relatos de caso encontrados na literatura que demonstram apresentações atípicas do PMP. O presente estudo apresenta o caso de um adolescente com 17 anos ao diagnóstico e sítio primário no colón transverso com tumor esporádico, contrário aos dados comumente encontrados na literatura, que referem acometimento mais comum em mulheres na quinta década de vida e com sítio primário em ovário e apêndice. O desenvolvimento de adenocarcinoma mucinoso é raro na população pediátrica e a topografia no cólon transverso e padrão esporádico não familial também são pouco usuais. Conclusão: O caso relatado alerta para as apresentações atípicas da doença e enfatiza o uso de exames de imagem para o diagnóstico, que, se realizado precocemente, impacta de maneira importante o prognóstico e a sobrevida.
Asunto(s)
Humanos , Masculino , Adolescente , Neoplasias Peritoneales/diagnóstico por imagen , Seudomixoma Peritoneal/diagnóstico por imagen , Neoplasias Peritoneales/patología , Neoplasias Peritoneales/terapia , Seudomixoma Peritoneal/patología , Seudomixoma Peritoneal/terapia , Imagen por Resonancia Magnética , Tomografía , Resultado Fatal , Adenocarcinoma Mucinoso/patología , Colon Transverso/patologíaRESUMEN
We present the case of a 53-year-old woman with a time of illness of 20 months, characterized by pain at the site of surgical intervention for opened cholecystectomy 3 years ago, associated with a presence of a mass in said area, with the following abscess formation and fistulization of food content. Imaging studies revealed a mass dependent of the transverse colon, in contact with stomach and abdominal wall and presenting fistulas to the skin. Said mass was extracted during surgery with anatomopathological result of mucinous colon adenocarcinoma. The case represented a diagnostic challenge for the medical team and in view of the variaty of clinical manifestations of colonic cancer, we suggest that it should be consider as a differential diagnosis in cases of abdominal wall abscess and enteric fistulas.
Asunto(s)
Pared Abdominal , Adenocarcinoma Mucinoso/patología , Neoplasias del Colon/patología , Neoplasias Primarias Múltiples/patología , Neoplasias Gástricas/patología , Absceso Abdominal/etiología , Adenocarcinoma Mucinoso/complicaciones , Adenocarcinoma Mucinoso/cirugía , Neoplasias del Colon/complicaciones , Neoplasias del Colon/cirugía , Fístula Cutánea/etiología , Femenino , Fístula Gástrica/etiología , Humanos , Fístula Intestinal/etiología , Persona de Mediana Edad , Invasividad Neoplásica , Neoplasias Primarias Múltiples/complicaciones , Neoplasias Primarias Múltiples/cirugía , Neoplasias Gástricas/complicaciones , Neoplasias Gástricas/cirugíaRESUMEN
INTRODUCTION: Mucinous adenocarcinoma on perianal fistula is a rare entity; it could be underdiagnosed because it behaves often as a regular perianal fistula. MATERIALS AND METHODS: We have recently treated four cases in our unit. We present them and review the literature, emphasizing on clinical characteristic and therapeutic options. The four patients were male with a mean age of 64. Three of them were classified as locally advances cases and therefore treated with neoadjuvant therapy. RESULTS: All of them underwent laparoscopic abdominoperineal escisión. Surgical specimens are described and clinical characteristic specified. Review of the literature shows that this disease has a very high potential risk of local recurrence and we must be aggressive with the resection. Sometimes plastic surgery is needed to reconstruct the perianal wound. CONCLUSIONS: Mucinous adenocarcinoma associated with anal fistula is a rare disease. Neoadjuvant chemoradiotherapy followed by an adequate abdominoperineal excision may result in favourable outcomes.