RESUMEN
Rhabdomyosarcoma is the most common soft tissue sarcoma in childhood and adolescence. Morphologically, two major forms are described: alveolar and embryonal rhabdomyosarcoma. The former is generally associated with a poorer prognosis and it usually harbors a characteristic fusion gene, PAX3/7-FOXO1, that is used to confirm the diagnosis. We present two cases, both of which exhibited the classic alveolar histology with immunohistochemical myogenic differentiation (Desmin, MYOD-1 and Myogenin expression) and lacked the characteristic fusion gene PAX3/7-FOXO1. The aim of this report is to highlight the importance of the molecular status in the study and diagnosis of these cases, as it seems to be not only a useful diagnostic tool, but also an important prognostic factor.
Asunto(s)
Rabdomiosarcoma Alveolar , Neoplasias de los Tejidos Blandos , Proteína Forkhead Box O1/genética , Proteína Forkhead Box O1/metabolismo , Fusión Génica , Humanos , Factor de Transcripción PAX3/genética , Factor de Transcripción PAX3/metabolismo , Factor de Transcripción PAX7/genética , Rabdomiosarcoma Alveolar/genética , Rabdomiosarcoma Alveolar/patologíaRESUMEN
BACKGROUND AND OBJECTIVES: Appendiceal neoplasms with extra-appendiceal spread may show different clinical patterns with pseudomyxoma peritonei (PMP) being one of them. We analyse the results in a series of patients treated in our centre. MATERIAL AND METHODS: Retrospective study of patients operated on for appendiceal peritoneal carcinomatosis from January 2012 to May 2015. RESULTS: Twenty-seven consecutive patients were included. Median age 63 years (26-73); 14 were men. Peritoneal carcinomatosis index=16±8 (3-31). The suspected preoperative origins were appendix in 23, ovary in 3 and urothelial in one. Postoperative mortality in 2 patients (7.4%). The remaining 36% presented morbidity. Major morbidity (Clavien-Dindo grades 3 and 4) occurred in 3 patients (12%). CONCLUSIONS: Mucinous adenocarcinomas with extra-appendiceal spread may present as PMP with mucinous ascites, jelly-nodular carcinomatosis without ascites, nodular or desmoplasic plates carcinomatosis without jelly mass/nodules. Histology is not correlated to clinical picture. Preoperative diagnosis of mucinous ovarian cancer in peritoneal carcinomatosis scenario may increase the doubt of their ovarian origin and force an appendiceal origin to be ruled out.
Asunto(s)
Adenocarcinoma Mucinoso/patología , Neoplasias del Apéndice/patología , Neoplasias Peritoneales/patología , Seudomixoma Peritoneal/patología , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/mortalidad , Adenocarcinoma Mucinoso/cirugía , Adulto , Anciano , Neoplasias del Apéndice/diagnóstico , Neoplasias del Apéndice/mortalidad , Neoplasias del Apéndice/cirugía , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Neoplasias Peritoneales/diagnóstico , Neoplasias Peritoneales/mortalidad , Neoplasias Peritoneales/cirugía , Pronóstico , Seudomixoma Peritoneal/diagnóstico , Seudomixoma Peritoneal/mortalidad , Seudomixoma Peritoneal/cirugía , Estudios RetrospectivosRESUMEN
OBJECTIVES: The existence of non seminomatous mixed germ cell tumors of the testis is a frequent event in urologic oncology. Nevertheless, the presence of both components, seminomatous and non seminomatous, in a germ cell tumor is unusual. METHODS: We present a case of pure classic seminoma of the testis with a lymph node metastasis of pure embryonal carcinoma, with confirmatory immuohistochemical study and clinical outcome of the patient. RESULTS: A 34-year-old man presented with 3 cm supraclavicular tumor. CT scan also revealed multiple metastases in lymph nodes, liver, kidney and left adrenal gland. Tumor markers were negative and the biopsy performed discovered a lymph node metastasis of embryonal carcinoma of probable testicular origin. Ultrasound revealed a 6 mm hypoechoic nodule in the right testis. Orchyectomy was performed and pathologic analysis demonstrated a tumor, 1 cm of diameter, histopathologically compatible with classical seminoma with pagetoid extension to rete testis. Albuginea and spermatic cord did not present neoplastic involvement. Currently the patient is being treated with chemotherapy. CONCLUSION: The interest of the case is to remark an unusual aggressive clinical presentation as well as to perform a bibliographic review with emphasis in the theories regarding heterogeneous differentiation and spontaneous regression of germ cell tumors of the testis.
Asunto(s)
Neoplasias de Células Germinales y Embrionarias/patología , Neoplasias Primarias Múltiples/patología , Neoplasias Testiculares/patología , Adulto , Humanos , MasculinoRESUMEN
Guía de diagnóstico y tratamiento del cáncer colorrectal estructurada en diferentes capítulos que abarcan desde una perspectiva epidemiológica, seguida de aspectos como la prevención primaria, secundaria e historia natural de la enfermedad, hasta los procesos de confirmación diagnóstica, estadificación, tratamiento y seguimiento de este tipo de pacientes. Incluye anexos donde se detallan los aspectos metodológicos en la elaboración de la guía, protocolos utilizados en la colonoscopia, hojas de intervención quirúrgica y de anatomía patológica, cáncer hereditario y un glosario de preguntas.
Asunto(s)
Neoplasias Colorrectales , Cirugía Colorrectal , Guía de Práctica Clínica , Medicina Basada en la EvidenciaRESUMEN
OBJECTIVE: To report one case of idiopathic granulomatous orchitis, an extremely rare disease, in a 76-year-old patient. METHODS/RESULTS: The pathology department received a testicle with the clinical/radiological diagnosis of testicular tumor. The pathologic study showed absence of neoplasias and presence of morphological findings compatible with idiopathic granulomatous orchitis. CONCLUSIONS: The idiopathic granulomatous orchitis is an entity of unknown etiology, clinically or ultrasonographically not distinguishable from testicular neoplasias, the diagnosis of which is made after orchiectomy.
Asunto(s)
Granuloma/patología , Orquitis/patología , Anciano , Granuloma/complicaciones , Granuloma/cirugía , Humanos , Masculino , Orquitis/complicaciones , Orquitis/cirugía , Enfermedades Testiculares/complicaciones , Enfermedades Testiculares/patología , Enfermedades Testiculares/cirugíaRESUMEN
OBJECTIVE: To study the prognostic value of p53, bcl-2 and c-erbB-2 immunoexpression in predicting tumor relapses in low-grade papillary bladder neoplasms. METHODS: In all patients a complete transurethral resection of the lesion was performed. All the material was formalin-fixed and paraffin-embedded. At the immunohistochemical level, the following monoclonal antibodies were utilized: p53 (clone DO7), bcl-2 (clone 124) and c-erbB-2 (clone CB11). In order to predict tumor relapses during follow-up, a study of specificity, sensitivity and predictive positive value (PVP) and negative was designed. In univariate statistical studies, the following tests were utilized: Chi-square, Kaplan-Meier estimates and Cox logistic regression. RESULTS: Mean follow-up was 76.6 months (38 to 168). In recurrence prediction, p53 expression showed a high specificity (99%) as well as a high PPV (96%). Regarding bcl-2 and c-erbB-2 immunoexpression, both specificity (65% and 72%) and PPV (61% and 72%) were also high, although these percentages were lower than those obtained for p53 expression. The combined analysis of p53 and bcl-2 indicated that bcl-2 immunoexpression in non-basal cells of the urothelium could be independent of p53, although the number of cases showing this particular expression pattern is not high enough to perform an accurate statistical analysis. Otherwise, histologic grade demonstrated higher sensitivity (64%) and lower specificity (40%) than the immunohistochemical markers. In univariate studies, p53 showed an intense statistical correlation with relapse-free interval (RFI) and prediction of tumor recurrences during follow-up (p < 0.001), whereas the expression of bcl-2 (p = 0.065) was nearly correlated with RFI (p = 0.065). In contrast, expression of c-erbB-2 did not show statistical correlation (p = 0.112). CONCLUSIONS: In our study, individual and combined analysis of p53 and bcl-2 immunoexpression have demonstrated to be useful in predicting tumor recurrences and RFI in low-grade bladder lesions.