RESUMO
INTRODUCTION: Trophoblastic neoplasia is detected in approximately 25% of complete hydatidiform moles (CMs) and 0.5% of partial hydatidiform moles (PMs). Hydatidiform mole (HM) subtyping is important to properly monitor and predict patient outcomes. Ploidy studies generally involve diploid CMs and triploid PMs. P57KIP2, expressed in the maternal genome, is usually not detected in CM. We determined whether HER2 FISH and p57 immunostaining contributed to the histopathological classification of HMs. METHODS: This retrospective cohort study focused on patients diagnosed with HM by histopathological examination who were followed up at a trophoblastic disease center from 2002 to 2017. Pathological samples of 108 products of conception were reviewed and reclassified according to detailed criteria. Tissue microarray technology (TMA) was used for p57 KIP2 immunostaining and HER2 FISH analysis. RESULTS: Histopathological review showed 57 (53%) CMs, 47 (43%) PMs and 4 (4%) inconclusive cases. P57 immunostaining revealed 59 (55%) negative and 22 (20%) positive specimens, and 27 (25%) were inadequate for analysis. FISH HER2 detected 68 (63%) diploid and 33 (30%) triploid cases; two (2%) had oncogene amplification. The three strategies led to a diagnostic change in 28 samples (26%). The final diagnosis was CM in 75 cases (70%) and PM in 30 (28%); three cases remained inconclusive. DISCUSSION: TMA is a cost-saving method that allows the simultaneous study of large case series. The combination of histopathology, HER2 FISH and p57 tests can be useful for accurately differentiating CM and PM, thus providing additional information on disease prognosis.
Assuntos
Inibidor de Quinase Dependente de Ciclina p57/metabolismo , Mola Hidatiforme/metabolismo , Receptor ErbB-2/metabolismo , Neoplasias Uterinas/metabolismo , Adulto , Inibidor de Quinase Dependente de Ciclina p57/genética , Feminino , Humanos , Mola Hidatiforme/genética , Mola Hidatiforme/patologia , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Gravidez , Receptor ErbB-2/genética , Estudos Retrospectivos , Análise Serial de Tecidos , Trofoblastos/metabolismo , Trofoblastos/patologia , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologiaRESUMO
A Neurofibromatose tipo 1 (NF1), também conhecida como Doença de von Recklinghausen, é a forma mais freqüente da Neurofibroatose, correspondendo a 90 por cento de todos os casos. A presença de múltiplos neurofibromas constitui uma das principais manifestações clínicas da NF1. Outras características clínicas freqüentemente observadas na NF1 são: manchas café-com-leite, efélides inguinais e axilares e nódulos de Lisch. A NF1 é uma doença autossômica dominante, completamente penetrante e com marcante variabilidade, mesmo nos casos intrafamiliares. A complexidade e a diversidade das mutações do gene NF1 fazem as correlações genótipo-fenótipo muito difíceis. Embora várias mutações diferentes já tenham sido relatadas, ainda são limitadas as informações sobre a correlação genótipo-fenótipo nos pacientes com NF1. Até o momento, a única correlação genótipo-fenótipo que está bem estabelecida e já foi relatada em vários estudos é a associação de grandes deleções (~1,5 mb), envolvendo o gene NF1 e o DNA circunvizinho, que levam a um fenótipo mais grave. O objetivo deste trabalho é fazer uma revisão da literatura sobre o conhecimento atual das alterações genéticas na NF1.
Assuntos
Genética , Neurofibromatose 1RESUMO
Diffuse large B cell lymphomas (DLCBL) are a group of lymphomas whose biologic and prognostic diversity has been recently well characterized. There is also morphologic heterogeneity, but the relevance of subclassification remains uncertain. The World Health Organization Classification states that pathologists have the choice to use only the term diffuse large B-cell lymphoma or to use one of the specific morphologic variants. The aim of the present study was to evaluate if there is an association between immunoblastic morphology and the immunophenotypic profile in DLBCL. Two observers reviewed 117 DLBCL cases. Cases of immunoblastic lymphoma and cases of centroblastic polymorphic lymphoma with more than 50% immunoblasts were defined as having immunoblastic morphology. Immunohistochemistry was performed on tissue microarray slides to establish the immunophenotypic profile. Patients with immunoblastic morphology more frequently had a non-GCB phenotype (94% vs 6%). This finding suggests that the morphological subclassification of DLBCL does have biological meaning, in line with recent evidence indicating that the immunoblastic morphology should not be overlooked in lymphoma classification.
