Granulosa cell tumor of the testis in a newborn

Testicular neoplasms are uncommon tumors of childhood. These tumors comprise the germ cell tumors, and other tumors that may originate from histological testicular components, which are unrelated to the germinal lineage. Among the latter are the sex cord-stromal tumors (SCST), an important entity in newborns. SCSTs comprise, among others, granulosa cell tumors, which are more common in the ovary, but in rare cases may develop in the testis. The prognosis is excellent since it is universally benign. Diagnosis, which is sometimes challenging, is usually made after orchiectomy and pathological examination, which is characterized by morphological features and positive expression of inhibin, calretinin, and vimentin, and negative for alpha-fetoprotein. The authors present the case of a newborn with a right enlarged testis detected during the first examination after birth. Ultrasonography showed a heterogeneous solid/cystic mass in the right testis, without retroperitoneal lymphadenopathy. A right inguinal orchiectomy was performed 21 hours after birth. Pathologic examination revealed a juvenile granulosa cell tumor of the right testicle. After 4 years of follow-up, as expected, the child presented an uneventful outcome

Intramuscular metastatic squamous cell carcinoma of the cervix: autopsy case report

Cancer of the uterine cervix is the fourth leading cause of death in women in Brazil, accounting for 4800 fatal cases per year. The histology of this neoplasia is mainly represented by squamous cell carcinoma (80-85%), adenocarcinomas (10-15%), and, more rarely, mixed carcinomas. The Papanicolaou (Pap) smear test is the method of excellence in detecting incipient or pre-malignant lesions. Since its implementation, the Pap test has been reducing the incidence of this neoplasia worldwide, despite its lack of high sensitivity and specificity. Both incidence and mortality from cervical cancer have sharply decreased following the introduction of well-run screening programs. The cervical cancer typically spreads to adjacent structures by contiguity; pelvic and para-aortic lymph nodes are involved by lymphatic dissemination. Less frequently, hematogenic spread is observed, and when it occurs, the brain, breast, and skeletal muscle are rarely involved. The authors report a case of a young woman who underwent periodical gynecological examination with negative Pap tests and presented to the hospital with an advanced cervical metastatic disease involving thyroid, muscles, lymph nodes, and breast (among others sites). The diagnosis of the primary site was not elucidated during life. The patient died, and at autopsy an endophytic squamous cell carcinoma of the cervix was diagnosed

Podocytes molecular expression in the variants of focal segmental glomerulosclerosis

INTRODUÇÃO: A Glomerulosclerose Segmentar e Focal (GESF) é a glomerulopatia primária mais prevalente no Brasil e sua incidência vem aumentando no mundo inteiro. Na sua forma primária, caracteriza-se clinicamente por acometer pessoas jovens e causar proteinúria acentuada, geralmente acompanhada de síndrome nefrótica. O mecanismo patogênico tem como evento principal a lesão ao podócito, desencadeado por fatores de natureza variada: vírus, drogas/medicamentos, imunológicos, etc. Em 2004, foi publicada a classificação de Columbia, propondo 5 variantes morfológicas distintas na GESF: colapsante (COL), usual (NOS), apical ou tip lesion (TIP), perihilar (PHI) e variante celular (CEL). Diversos estudos comprovam alterações moleculares em podócitos na GESF. Essas alterações são observadas em diversos sítios podocitários: em moléculas envolvidas na fenda de filtração (slit diaphragm), por exemplo, nefrina, podocina e CD2AP; em moléculas do citoesqueleto podocitário, como a -actinina-4 e sinaptopodina; em moléculas marcadoras de diferenciação dos podócitos, como CD10 e WT-1; e ainda em marcadores de divisão celular como Ki-67 e PCNA. Os objetivos desse estudo foram: 1-) classificar as lesões morfológicas de GESF em biópsia renais nas 5 variantes da GESF propostas na Classificação de Columbia; e 2-) analisar a ocorrência de alterações moleculares podocitárias nestes casos. MÉTODOS: Foram selecionados 131 casos de biópsias renais com diagnóstico de GESF primária no período de 1996 a 2006. Os casos foram classificados de acordo com os critérios de Columbia e posteriormente submetidos a reações imuno-histoquímicas para os marcadores CD10, WT-1, vimentina, sinaptopodina, -actinina-4, GLEPP-1, citoqueratina 8/18, citoqueratina 19 e Ki-67. Os resultados foram submetidos à análise estatística através do teste qui-quadrado. RESULTADOS: A classificação das variantes da GESF se distribuiu da seguinte forma: 38,2% de variante NOS, 36,6% de variante COL, 14,5% de variante TIP, 6,9% de variante PHI e 3,8% de variante CEL. Os casos da variante COL se destacaram das demais variantes pela perda de expressão de marcadores de diferenciação celular, como o CD10 e o WT-1 (p<0,01), perda da molécula do citoesqueleto -actinina-4 (p<0,01) e neo-expressão de citoqueratinas 8-18 (p<0,05) e 19 (p<0,01). Adicionalmente, os casos das variantes COL e CEL se destacam das outras variantes pela expressão do marcador de divisão celular Ki-67 (p<0,05). CONCLUSÃO: a variante COL destacou-se das demais em relação às alterações moleculares observadas na análise imuno-histoquímica. O diagnóstico diferencial desta forma de GESF tem importância clínica por ela estar associada a pior evolução e prognóstico em relação às demais variantes. A integração destes marcadores na rotina diagnóstica pode auxiliar no diagnóstico diferencial da GESF COLINTRODUCTION: Focal segmental glomerulosclerosis (FSGS) is the most prevalent primary glomerulopathy in Brazil and its incidence is increasing worldwide. Primary FSGS is characterized clinically by affecting young people and causing severe proteinuria, often accompanied by nephrotic syndrome. The pathogenesis is related to podocyte injury, which may be due to several factors: viruses, drugs, immunological, etc. In 2004, the Columbia classification of FSGS identified five histological variants of the disease: collapsing (COL), usual (NOS), tip lesion (TIP), perihilar (PHI) and cellular variant (CEL). Several studies have demonstrated molecular changes in podocytes of FSGS patients, which were observed in molecules involved in the filtering function of these cells (nephrin, podocina and CD2AP), in podocyte cytoskeleton molecules (-actinin-4, and synaptopodin), as well as in molecular markers of podocyte differentiation (CD10 and WT-1) and of cell division (Ki-67 and PCNA). The aim of this study was to classify the FSGS biopsies according to the Columbia classification and to analyze the occurrence of molecular changes in the five morphological variants. METHODS: 131 cases of renal biopsies with a diagnosis of primary FSGS in the period 1996 to 2006 were classified according to the criteria of Columbia and then submitted to immunohistochemical reactions with the following antibodies: CD10, WT-1, Vimentin, Synaptopodin, -actinin-4, GLEPP-1, cytokeratin 8-18, cytokeratin 19, and Ki-67. RESULTS: FSGS cases were classified into five variants as follows: 38.2% of NOS variant, 36.6% COL, 14.5% TIP, 6.9% PHI and 3.8% CEL. The COL variant cases distinguished themselves among the other for having lost the expression of CD10 and WT-1 (p <0.01), and also of -actinin-4 (p <0, 01). Furthermore, they gained expression of the cytokeratin 8-18 (p <0.05) and 19 (p <0.01). The group of CEL and COL variants together differed from the other variants regarding the expression of cell division marker Ki-67 (p <0.05). CONCLUSION: COL variant of FSGS presents molecular changes that differs from others and can be demonstrated by immunohistochemistry. The differential diagnosis of this variant is important because of the worse clinical outcome and prognosis it presents in comparison with other variants. The identification of these markers by immunohistochemical on the routine practice may be useful in the diagnosis of COL FSG

Study of the morphologic variants of focal segmental glomerulosclerosis: a Brazilian report

INTRODUCTION: Focal segmental glomerulosclerosis (FSGS) is the most frequent primary glomerulopathy in Brazil and its incidence is increasing worldwide. Pathogenesis is related to podocyte injury, which may be due to several factors including viruses, drugs, genetics and immunological factors. In 2004, the Columbia classification of FSGS identified five histological variants of the disease: collapsing (COL), usual (NOS), tip lesion (TIP), perihilar (PHI) and cellular variant (CEL). The objective of this study was to classify the FSGS biopsies in these morphological variants. METHODS: One hundred thirty-one cases of renal biopsies with primary FSGS diagnosis, which had been performed at a Brazilian reference center from 1996 to 2006, were classified according to the Columbia criteria. RESULTS: FSGS cases were distributed as follows: 38.2% NOS variant, 36.6% COL, 14.5% TIP, 6.9% PHI and 3.8% CEL. CONCLUSION: COL variant of FSGS seems to be more prevalent in Brazil in comparison with other centers worldwide, which may be related to environmental and socioeconomic factors

Clinical and histological features of patients with membranoproliferative glomerulonephritis classified by immunofluorescence findings

Abstract Background: New classification for membranoproliferative glomerulonephritis has been proposed in the literature. The aim of this study was to compare the clinical, biochemical, etiology and renal biopsy findings of these patients grouped by immunofluorescence as proposed by the new classification. Methods: Patients with renal biopsy-proven membranoproliferative glomerulonephritis unrelated to systemic lupus erythematosus, diagnosed between 1999 and 2014. The patients were divided according to immunofluorescence: Immunoglobulin positive group, C3 positive only and negative immunofluorescence group. Results: We evaluated 92 patients, the majority of which were in the immunoglobulin positive group. Infectious diseases, hepatitis C virus and schistosomiasis, were the most frequent etiology. A negative immunofluorescence group had more vascular involvement in renal biopsy compare with others groups. Conclusions: The only difference between the groups was higher vascular involvement in renal biopsy in negative immunofluorescence group. These new classification was satisfactory for the finding of etiology in one part of the cases

Trombose de veia renal, doença de depósito de cadeias leves e nefropatia dos cilindros em paciente com mieloma múltiplo

A 56-year-old woman presented with thoracic pain and dyspnea for 3 days. She had been under treatment for systemic arterial hypertension for 16 years. Laboratory investigation showed acute renal failure with indication for hemodialysis. After dialysis, despite improvements in clinical and laboratory parameters, she had an episode of ventricular fibrillationand cardiac arrest which was promptly reverted. She was still oliguric but without neurological deficits. A laboratory work up for multiple myeloma was started. Serum protein  electrophoresis showed hypogammaglobulinemia without a monoclonal peak. While on laboratory work up, the patient had another episode of ventricular fibrillation and died. Theautopsy showed left renal vein thrombosis, bone marrow involvement by a plasmacytic myeloma, light-chain deposition disease with diffuse glomerular and tubular involvementand also myeloma cast nephropathy. This case illustrates a rarely documented association between myeloma cast nephropathy, renal light-chain deposition disease and renalvein thrombosis in a multiple myeloma patient with acute renal failure.Mulher de 56 anos, hipertensa há 16 anos em tratamento, apresenta quadro de dor torácica e dispnéia há 3 dias. A investigação laboratorial demonstrou insuficiência renalaguda com indicação de hemodiálise. Após diálise, apesar de melhora clínico-laboratorial, apresentou fibrilação ventricular e parada cardiorrespiratória revertidas. Evoluiu oligúrica, sem déficits neurológicos. Foi iniciada investigação laboratorial para mieloma múltiplo que demonstrou hipogamaglobulinemia sem pico monoclonal na eletroforese de proteínas. Durante a investigação a paciente apresentou novo episódio de fibrilaçãoventricular e óbito. A autópsia demonstrou trombose de veia renal esquerda, mieloma múltiplo plasmacítico com acometimento de medula óssea, nefropatia por depósitodifuso de cadeias leves kappa glomerular e tubular e nefropatia dos cilindros do mieloma.Este caso ilustra uma associação incomum entre nefropatia dos cilindros, nefropatia por depósito de cadeias leves e trombose de veia renal em paciente com mieloma múltiplo e insuficiência renal aguda

Disseminated Fusarium infection in autologous stem cell transplant recipient

Disseminated infection by Fusariumis a rare, frequently lethal condition in severely immunocompromised patients, including bone marrow transplant recipients. However, autologous bone marrow transplant recipients are not expected to be at high risk to develop fusariosis. We report a rare case of lethal disseminated Fusariuminfection in an autologous bone marrow transplant recipient during pre-engraftment phase

Glomeruloesclerose segmentar e focal (GESF) colapsante associada ao parvovírus B19: relato de caso

Objetivo: Descrever quadro cl&#237;nico-laboratorial de glomeruloesclerose segmentar e focal (GESF) subtipo colapsante em associa&#231;&#227;o com infec&#231;&#227;o por parvov&#237;rus B19 (PVB19). Relato do caso: Paciente feminino, 37 anos, parda, iniciou quadro de faringoalgia e febre aferida com melhora parcial ap&#243;s penicilina. Com uma semana, observou redu&#231;&#227;o de d&#233;bito urin&#225;rio e edema de membros inferiores. Tabagista, com hist&#243;rico familiar e pessoal negativos para hipertens&#227;o, diabetes ou nefropatias. &#192; admiss&#227;o, apresentava-se com oliguria, hipertens&#227;o e edema, associados &#224; anemia microc&#237;tica e hipocr&#244;mica hipoproliferativa, protein&#250;ria nefr&#243;tica, hemat&#250;ria microsc&#243;pica e altera&#231;&#227;o da fun&#231;&#227;o renal. A investiga&#231;&#227;o reumatol&#243;gica e sorologias para hepatites e HIV foram negativas. Ultrassonografia de rins e vias urin&#225;rias sem altera&#231;&#245;es. PCR foi positivo para PVB19 em aspirado de medula &#243;ssea e sangue. A bi&#243;psia renal conclusiva de GESF subtipo colapsante. Ocorreu remiss&#227;o espont&#226;nea com duas semanas do quadro. Em retorno ambulatorial, o PCR em sangue perif&#233;rico foi negativo para PVB19, sugerindo associa&#231;&#227;o de GESF colapsante a fase aguda ou reativa&#231;&#227;o da infec&#231;&#227;o viral. Conclus&#227;o : Este relato registra a associa&#231;&#227;o temporal entre GESF colapsante e viremia pelo PVB19, seja por infec&#231;&#227;o aguda ou reativa&#231;&#227;o de infec&#231;&#227;o latente. A associa&#231;&#227;o GESF colapsante e PVB19 &#233; descrita na literatura, com demonstra&#231;&#227;o da presen&#231;a do v&#237;rus em tecido renal, por&#233;m, a real rela&#231;&#227;o do v&#237;rus na patog&#234;nese dessa glomerulopatia permanece indefinida