[Histological, immunohistochemical and molecular study of a paratesticular dedifferentiated liposarcoma with inflammatory myofibroblastic tumor-like features]. / Liposarcoma desdiferenciado paratesticular simulando un tumor miofibroblástico inflamatorio. Estudio histológico, inmunohistoquímico y molecular.

We report the histological, immunohistochemical, and molecular findings of a dedifferentiated liposarcoma with inflammatory myofibroblastic tumor-like features occurring in the paratesticular region. Histologically, the dedifferentiated component closely resembled an inflammatory myofibroblastic tumor. The neoplastic cells were positive for smooth muscle actin with focal CD56, CD99, Bcl2 and EMA expression. WT1, calretinin, myogenin, CK(AE1/AE3), desmin, H-caldesmon, CD34, ALK, CKIT, DOG1, MUC4 and STAT6 were negative. MDM2 showed diffuse and strong nuclear positivity in neoplastic cells and fluorescence in situ hybridization (FISH) revealed amplified MDM2 (high level) but no SYT rearrangement. Although a lipomatous component was evident macroscopically, well-differentiated liposarcomatous components were not evident in the section examined. Dedifferentiated liposarcoma can have prominent inflammatory myofibroblastic tumor-like features. Pathologists should be aware of this histological variant in order to avoid misdiagnosing dedifferentiated liposarcoma as inflammatory myofibroblastic tumor or other spindle cell tumors which have different behavioral patterns and treatment requirements.

Liposarcoma desdiferenciado paratesticular simulando un tumor miofibroblástico inflamatorio. Estudio histológico, inmunohistoquímico y molecular / Histological, immunohistochemical and molecular study of a paratesticular dedifferentiated liposarcoma with inflammatory myofibroblastic tumor-like features

Se presenta un estudio histológico, inmunohistoquímico (IHQ) y molecular de un liposarcoma desdiferenciado paratesticular remitido a nuestro centro, con hallazgos histológicos similares a un tumor miofibroblástico inflamatorio. Las células tumorales fueron positivas para actina músculo liso (AML) y focalmente positivas para CD56, CD99, Bcl2 y EMA. La expresión de WT1, calretinina, miogenina, CK(AE1/AE3), desmina, H-caldesmona, CD34, ALK, CKIT, DOG1, MUC4 y STAT6 fue negativa. MDM2 mostró positividad nuclear intensa y difusa por IHQ y alto nivel de amplificación génica mediante hibridación fluorescente in situ (FISH). La FISH no reveló reordenamiento del gen SYT. En el estudio histológico del corte remitido no encontramos evidencias de componente liposarcomatoso bien diferenciado, aunque el aspecto macroscópico de la pieza lo sugería. El liposarcoma desdiferenciado puede presentar hallazgos histológicos que recuerdan a un tumor miofibroblástico inflamatorio y que expanden el espectro histológico de esta variante de liposarcoma. El conocimiento de la existencia de esta variante de liposarcoma es de crucial importancia para no confundirla con otras neoplasias que, aunque histológicamente similares, difieren en la evolución clínica y/o tratamiento.(AU)

We report the histological, immunohistochemical, and molecular findings of a dedifferentiated liposarcoma with inflammatory myofibroblastic tumor-like features occurring in the paratesticular region. Histologically, the dedifferentiated component closely resembled an inflammatory myofibroblastic tumor. The neoplastic cells were positive for smooth muscle actin with focal CD56, CD99, Bcl2 and EMA expression. WT1, calretinin, myogenin, CK(AE1/AE3), desmin, H-caldesmon, CD34, ALK, CKIT, DOG1, MUC4 and STAT6 were negative. MDM2 showed diffuse and strong nuclear positivity in neoplastic cells and fluorescence in situ hybridization (FISH) revealed amplified MDM2 (high level) but no SYT rearrangement. Although a lipomatous component was evident macroscopically, well-differentiated liposarcomatous components were not evident in the section examined. Dedifferentiated liposarcoma can have prominent inflammatory myofibroblastic tumor-like features. Pathologists should be aware of this histological variant in order to avoid misdiagnosing dedifferentiated liposarcoma as inflammatory myofibroblastic tumor or other spindle cell tumors which have different behavioral patterns and treatment requirements.(AU)

Primary malignant melanoma of the biliary tract: A case report and literature review.

BACKGROUND: Primary malignant melanoma of the biliary tract (MBT) is a rare condition whose diagnosis requires excluding a primary origin in another location. This paper reviews the most important characteristics of MBT cases published in the literature and reports a new case. The patient reported here is the first case of primary malignant melanoma of the biliary tract with pulmonary metastasis treated with immunotherapy. This patient remains disease-free 36 mo after the treatment of metastatic lung lesions. CASE SUMMARY: A 51-year-old man was admitted to the gastrointestinal department to study obstructive jaundice of a 1 wk clinical course. Magnetic resonance cholangiopancreatography revealed dilatation of the intrahepatic biliary tract and stenosis of the common hepatic duct. Given the suspicion of biliary tract neoplasia, cholecystectomy and resection of the common hepatic duct were performed with hepatic jejunostomy free of complications. Anatomo-pathological diagnosis was melanoma. After intervention, the patient was referred to the Department of Medical Oncology, where a primary origin was excluded in the skin, mucosa, and eyes. This confirmed diagnosis of primary biliary tract melanoma. Computed tomography was performed 12 mo after the procedure revealed several subcentimetric lung nodules. Wedge resection was performed. After confirming the diagnosis of pulmonary metastasis of primary melanoma of the biliary tract, the patient was started on immunotherapy with nivolumab. Tolerance to treatment was excellent. The patient remains disease-free 36 mo after the treatment of metastatic lung lesions. CONCLUSION: The patient reported here is the first case of primary malignant melanoma of the biliary tract with lung metastases successfully treated with immunotherapy.

Primer caso descrito de enfermedad de Fabry causada por un mosaicismo somático en el gen GLA / First reported case of fabry disease caused by a somatic mosaicism in the GLA gene

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La variante p.Arg118Cys en el gen GLA no causa enfermedad de Fabry. Más evidencias / The p.Arg118Cys variant in the GLA gene does not cause Fabry disease. More evidence

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Amiloidosis renal y tiroidea secundaria a síndrome periódico asociado a criopirinas (síndrome de Muckle-Wells) (mutación NLRP3) / Renal and thyroid amyloidosis secondary to cryopyrin associated periodic syndrome (Muckle-Wells syndrome) (NLRP3 mutation)

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Association of bladder adenocarcinoma and BK virus infection in a pancreatico-renal transplant recipient.

Viral infection has been related to post-transplantation tumour development, particularly Epstein-Barr virus, human papillomavirus, hepatitis B and C viruses, and herpes virus 8. Recently, BK virus (BKV) has emerged as an important cause of tumour formation in solid organ transplant recipients. BKV oncogenic potential relates to the ability to inactivate the functions of tumour suppression proteins p53 and pRB family, and induction of chromosomal aberrations. We report a case of urinary bladder adenocarcinoma in a pancreatico-renal transplant recipient which was diagnosed 2 years after BKV infection. Immunohistochemical staining for SV-40 was positive in neoplastic cells but negative in non-neoplastic cells.

[Prevalence of incidental prostatic adenocarcinoma after suprapubic adenomectomy with or without previous prostatic biopsy]. / Prevalencia de adenocarcinoma prostático incidental tras adenomectomía suprapúbica con o sin biopsia prostática previa.

OBJECTIVES: To establish the prevalence of incidental prostate cancer after transrectal ultrasound guided prostatic biopsy and subsequent suprapubic prostatic adenomectomy and to compare it with a similar group of patients who did not underwent biopsy before surgery. To evaluate treatment, outcomes, and disease progression in patients with incidental prostate cancer. METHODS: Retrospective study of 549 suprapubic adenomectomy performed between 1996-2001 (6 yr.), comparing the group of patients with biopsies before surgery vs. the group of patients without biopsies. RESULTS: 291 (53%) patients did not undergo biopsy before adenomectomy. 258 (47%) underwent biopsies. 25 incidental prostate cancers were detected, 19 (76%) in the group of no biopsy and 6 (24%) in the biopsy group. 88% pT1a and 12%pT1b. Mean Gleason score 4.5 (3-7). 84% of the patients did not receive treatment (21) ("wait and see"); 8% (2) androgen blockade; 8% (2) finasteride (2). Three patients (12%) in the group of no biopsy had disease progression. Mean follow-up was 48.1 months (22-96). No case of cancer-specific mortality was detected. CONCLUSIONS: Global prevalence of incidental prostate cancer in our series of patients undergoing suprapubic prostatic adenomectomy was 4.55%. Prevalence was higher in the group of patients without previous biopsy (3.46%) than in the biopsy group (1.09%). Tumor progression was 12% and cancer specific survival 100% after a mean follow-up of 48.1 months (22-92). Previous prostatic biopsy in patients with suspicions digital rectal examination or elevated PSA diminishes the prevalence of incidental prostate cancer. Watchful waiting may be a valid option in some cases.

Prevalencia de adenocarcinoma prostático incidental tras adenomectomía suprapúbica con o sin biopsia prostátic previa / Prevalence of incidental prostatic adenocarcinoma after suprapubic adenomectomy with or without previous prostatic biopsy

OBJETIVO: Determinar la prevalencia de cáncer de próstata incidental tras biopsia prostática transrectal ecodirigida y posterior adenomectomía prostáticasuprapúbica, y compararlo con la prevalencia de un grupo similar de pacientes que no fueron biopsiados previamente a la cirugía. Evaluar el tratamiento, la evolucióny las progresiones de la enfermedad tumoral en los pacientes con cáncer de próstata incidental.MÉTODOS: Estudio retrospectivo de 549 adenomectomíassuprapúbicas realizadas entre 1996-2001 (6 años), comparando el grupo de pacientes biopsiados previamente a la adenomectomía con el grupo no biopsiado.RESULTADOS: 291 (53%) pacientes no fueron biopsiadospreviamente a la adenomectomía. 258 (47%) fueronbiopsiados. 25 cánceres de próstata incidentales detectados, 19 (76%) en el grupo de los no biopsiados y 6 (24%) en el de los biopsiados. 88% pT1a y 12% pT1b. Gleason medio 4,5 (3-7). No fueron tratados el 84% de los pacientes (21) (“esperar y ver”); bloqueo hormonal 8% (2); finasteride 8% (2). Progresaron 3 pacientes (12%), todos del grupo de los no tratados. Media de seguimiento de 48,1 meses (22-96). No se detectó ningún caso de mortalidad cáncer de próstata específico.CONCLUSIONES: La prevalencia global de cáncer de próstata incidental en nuestra serie en pacientes a los que se les realizo adenomectomía prostática suprapúbicafue del 4,55%. La prevalencia fue mayor en el grupo de pacientes no biopsiados previamente a la adenomectomía (3,46%) que en el grupo de los biopsiados(1,09%). La progresión tumoral fue del 12% y la supervivencia cáncer de próstata específica del 100% tras una media de seguimiento de 48,1 meses (22-92). La biopsia prostática previa a la adenomectomía en pacientescon tacto rectal sospechoso o PSA elevado disminuyela prevalencia de cáncer prostático incidental. El seguimiento expectante activo puede ser una actitud valida en determinados casos

OBJECTIVES: To establish the prevalence of incidental prostate cancer after transrectal ultrasound guided prostatic biopsy and subsequent suprapubic prostatic adenomectomy and to compare it with a similar group of patients who did not underwent biopsy before surgery. To evaluate treatment, outcomes, and disease progression in patients with incidental prostate cancer. METHODS: Retrospective study of 549 suprapubicadenomectomy performed between 1996-2001 (6 yr.), comparing the group of patients with biopsies before surgery vs. the group of patients without biopsies.RESULTS: 291 (53%) patients did not undergo biopsy before adenomectomy. 258 (47%) underwent biopsies. 25 incidental prostate cancers were detected, 19 (76%) in the group of no biopsy and 6 (24%) in the biopsy group. 88% pT1a and 12%pT1b. Mean Gleason score 4.5 (3-7). 84% of the patients did not receive treatment (21) (“wait and see”); 8% (2) androgen blockade; 8% (2) finasteride (2). Three patients (12%) in the group of no biopsy had disease progression. Mean follow-up was 48.1 months (22-96). No case of cancer-specific mortality was detected.CONCLUSIONS: Global prevalence of incidental prostate cancer in our series of patients undergoing suprapubic prostatic adenomectomy was 4.55%. Prevalence was higher in the group of patients without previous biopsy (3.46%) than in the biopsy group (1.09%). Tumorprogression was 12% and cancer specific survival 100% after a mean follow-up of 48.1 months (22-92).Previous prostatic biopsy in patients with suspicionsdigital rectal examination or elevated PSA diminishes the prevalence of incidental prostate cancer. Watchful waiting may be a valid option in some cases