Los cuerpos de Marinesco. Estudio de 8 casos y revisión de la literatura / Marinesco bodies. Report of 8 cases and review of the literature

Introducción: Los cuerpos de Marinesco (CM) son inclusiones intranucleares de patogenia desconocida que aparecen en las neuronas pigmentadas de la sustancia negra. Clásicamente, se han asociado al envejecimiento celular y al estrés metabólico. Las últimas investigaciones refieren su mayor frecuencia de aparición en algunas enfermedades neurodegenerativas y plantean la hipótesis de un papel patológico aún no aclarado. Material y métodos: Seleccionamos 8 casos de autopsia del periodo 2002 a 2004 para un estudio semicuantitativo y morfológico de los CM con hematoxilina-eosina y ubicuitina. Ningún caso tenía enfermedad neurodegenerativa de base. Las variables en estudio son: el número, tamaño, relación con el nucléolo y patrón de inmunotinción. Resultados: Los CM son inclusiones esféricas, eosinófilas, homogéneas y bien delimitadas. Los encontramos en el 9% de las neuronas pigmentadas (5,2-14,9%). Con mayor frecuencia aparecen 1 o 2 CM, menores que el nucléolo y localizados en su vecindad, pero no adosados al mismo. Identificamos 4 patrones de inmunotinción con ubicuitina: homogéneo, concéntrico, en anillo y formas intermedias. Conclusiones: Los CM se han relacionado con el envejecimiento aunque nuestra pequeña serie no revela diferencias morfológicas ni cuantitativas significativas con la edad. Por otro lado, identificamos hasta 4 patrones de inmunotinción con ubicuitina no descritos previamente. Este estudio ofrece una descripción detallada y sistemática de las características morfológicas de los CM y aporta novedades sobre su expresión inmunohistoquímica (AU)

Introduction: Marinesco bodies (MBs) are intranuclear inclusions of unknown origin found in substantianigra pigmented neurons. Classically, they have been associated with ageing and metabolic stress. The most recent research has shown an increased frequency of the appearance of MBs in some neurodegenerative diseases, although their role remains as yet undefined Material and methods: A semi-quantitative and morphological study of MBs on H&E and ubiquitin-stained sections was carried out on 8 cases from autopsies performed between 2002 and 2004. None had neurodegenerative disease. Variables were: number, size, relation to nucleoli and ubiquitin immunohistochemical pattern. Results: MBs generally are spherical, eosinophilic, homogeneous and well-defined inclusions occurring in 9% of the pigmented neurons (5.2-14.9%). More frequently, we found 1 or 2 MBs that were smaller than the nucleoli and located in close vicinity, but not back to back. We identified 4 patterns of ubiquitin-immunostaining: homogeneous, concentrical, ring-like and intermediate. Conclusions: MBs appear to be related to ageing, although our small series did not find significant morphological or quantitative differences with age. Conversely, we identified up to four ubiquitin-immunostaining patterns not previously reported in the literature. This study gives a detailed and systematic description of MBs together with new findings about their immunohistochemical expression (AU)

Collagenous sprue: don´t forget connective tissue in chronic diarrhea evaluation.

Collagenous sprue is a rare disease of the small bowel characterized by mucosal atrophy and excessive subepithelial collagen deposition. The etiology remains unclear and the diagnosis is based upon patient´s clinical picture and anatomopathological findings. Clinically, collagenous sprue is characterized by persistent diarrhoea, severe malabsorption, multiple nutrient deficiencies and progressive weight loss. Differential diagnosis includes celiac disease, which is mandatory to rule out because of their frequent association. Glutenfree diet is the first therapeutic step, but it usually is not effective. However, recent studies show high success rates with immunomodulators, mainly corticosteroids. We report the case of a patient presenting with chronic diarrhea and severe malabsorption who was diagnosed with collagenous sprue, with no response to gluten free diet, but with excellent response to budesonida.

Esprúe colágeno: no olvidemos el tejido conectivo en la evaluación de la diarrea crónica / Collagenous sprue: don’t forget connective tissue in chronic diarrhea evaluation

El esprúe colágeno es una patología infrecuente del intestino delgado caracterizada por atrofia de la mucosa y depósito excesivo de colágeno a nivel subepitelial. Su etiología es desconocida y su diagnóstico se realiza en base a la presencia tanto de un cuadro clínico compatible como de hallazgos anatomopatógicos sugestivos. Los pacientes suelen presentar diarrea crónica, malabsorción, deficiencias nutricionales graves y una marcada pérdida ponderal. Dentro del diagnóstico diferencial es mandatorio descartar enfermedad celiaca por su frecuente asociación a la misma. La dieta sin gluten es el primer escalón terapéutico, pero generalmente no es efectiva. Sin embargo, estudios recientes señalan altas tasas de éxito mediante el uso de inmunomoduladores. Presentamos el caso de un paciente con diarrea crónica y malabsorción grave diagnosticado de esprúe colágeno, sin respuesta a la dieta sin gluten, en el que el tratamiento con budesonida ha conseguido una excelente respuesta(AU)

Collagenous sprue is a rare disease of the small bowel characterized by mucosal atrophy and excessive subepithelial collagen deposition. The etiology remains unclear and the diagnosis is based upon patient’s clinical picture and anatomopathological findings. Clinically, collagenous sprue is characterized by persistent diarrhoea, severe malabsorption, multiple nutrient deficiencies and progressive weight loss. Differential diagnosis includes celiac disease, which is mandatory to rule out because of their frequent association. Gluten-free diet is the first therapeutic step, but it usually is not effective. However, recent studies show high success rates with immunomodulators, mainly corticosteroids. We report the case of a patient presenting with chronic diarrhea and severe malabsorption who was diagnosed with collagenous sprue, with no response to gluten free diet, but with excellent response to budesonida(AU)

Linfoma T asociado a enteropatía: un reto diagnóstico / Enteropathy-associated T-cell lymphoma: a diagnostic challenge

El diagnóstico de la enfermedad celíaca resistente (ECR) se establece, tras la exclusión de otras entidades, ante la persistencia de datos clínicos de malabsorción y atrofia vellositaria durante 6-12meses a pesar de una estricta dieta sin gluten (DSG). La detección de alteraciones en la población linfocitaria intraepitelial es importante para su diagnóstico. Un subgrupo de pacientes con ECR pueden desarrollar complicaciones severas, como linfoma T asociado a enteropatía (LTAE). Presentamos el caso de un paciente con EC silente de larga evolución que finalmente derivó en LTAE y que evidencia el reto que supone para el clínico tanto el diagnóstico como el tratamiento de esta entidad (AU)

Diagnosis of refractory celiac disease (CD) is based on exclusion of other disorders, persistence of malabsorptive symptoms and villous atrophy, despite a strict gluten-free diet for at least 6-12months. Detection of alterations in the intraepithelial lymphocyte population is crucial for diagnosis. A subgroup of patients with refractory CD may develop severe complications such as enteropathy-associated T cell lymphoma (EATL). We present the case of a patient with longstanding silent CD who developed EALT, highlighting the challenge posed by the diagnosis and treatment of this entity (AU)

[Enteropathy-associated T-cell lymphoma: a diagnostic challenge]. / Linfoma T asociado a enteropatía: un reto diagnóstico.

Diagnosis of refractory celiac disease (CD) is based on exclusion of other disorders, persistence of malabsorptive symptoms and villous atrophy, despite a strict gluten-free diet for at least 6-12 months. Detection of alterations in the intraepithelial lymphocyte population is crucial for diagnosis. A subgroup of patients with refractory CD may develop severe complications such as enteropathy-associated T cell lymphoma (EATL). We present the case of a patient with longstanding silent CD who developed EALT, highlighting the challenge posed by the diagnosis and treatment of this entity.

CD10 expression in pure stromal and sex cord-stromal tumors of the ovary: an immunohistochemical analysis of 101 cases.

CD10 has been recently advocated as a good immunohistochemical marker for endometrial stromal tumors. Metastatic endometrial stromal tumors to the ovary and primary endometrioid stromal sarcomas may show overlapping histological features with pure stromal and sex cord-stromal tumors (SCSTs). We investigated CD10 expression in a large series of pure stromal and SCSTs of the ovary to ascertain whether CD10 may aid in this differential diagnosis. Archival material from 11 fibromas, 10 thecomas, 10 sclerosing stromal tumors (SSTs), 10 adult granulosa cell tumors (AGCTs), 4 luteinized AGCTs, 9 juvenile granulosa cell tumors (JGCTs), 9 Sertoli cell tumors, 9 Sertoli-Leydig cell tumors, 11 sex cord tumors with annular tubules, 10 steroid cell tumors (StCTs), and 8 fibrosarcomas of the ovary were immunostained for CD10. The percentage of cells stained (<5%, 5%-39%, 40%-75%, and >75%) and intensity of staining (1+, 2+, 3+) were evaluated. CD10 was expressed in 7 of 10 thecomas (4 with 5%-75% and mostly 1+), 9 of 10 SSTs (7 with 5%-39% + cells, mostly 1+), 9 of 10 AGCTs (<5%-39%, four 1+, five 2+), 1 of 4 luteinized AGCTs (<5% and 1+), 8 of 9 JGCTs (mostly <5% to 39% and +1), 4 of 9 Sertoli cell tumors (either focal or >75% with variable intensity), 4 of 9 Sertoli-Leydig cell tumors (mostly <10% with variable staining), with the Leydig cells being positive in only 1 tumor (1+ and <5%), and 7 of 10 StCTs (4 tumors with more than 75% + cells, from 1+ to 3+). All fibromas, all but 1 fibrosarcoma (<5% and 1+), and all sex cord tumors with annular tubules were CD10 negative. CD10 expression was frequently seen in StCTs, SSTs, and thecomas of the ovary, although the latter 2 categories usually showed only faint immunoreactivity. In conclusion the frequency and intensity of CD10 immunoreactivity in pure stromal and sex cord-stromal ovarian tumors are low and contrast with the typical strong and diffuse immunostaining seen in endometrial stromal tumors; however, faint CD10 positivity is consistent with the diagnosis of ovarian SCST. Steroid cell tumors are often positive for CD10, but these tumors do not pose problems in differential diagnosis with endometrial stromal tumors. CD10 may play a useful role in aiding the differential between endometrial stromal tumors in the ovary and SCST and stromal tumors.

Renal variant of Anderson-Fabry disease and bilateral renal cell carcinoma.

Anderson-Fabry disease (AFd) is an X-linked metabolic disease with clinical manifestations secondary to accumulation of glycosphingolipids in various tissues. We report the first case in which a patient with renal variant of AFd and chronic renal failure developed bilateral conventional renal cell carcinoma. His metabolic disorder was diagnosed only after histopathologic study of the kidney specimen resected because of the tumoral lesion. There is no clear etiologic relation between the metabolic and neoplastic disease. As AFd is not common or well known and its clinical manifestations tend to be nonspecific, the disorder is often unrecognized, misdiagnosed, or diagnosed late in life. The pathologist should be aware of this disorder when evaluating a kidney specimen from patients with chronic renal failure of unknown cause.