MiT Ailesi Translokasyon Tipi Renal Hücreli Karsinomların Morfolojik, İmmünhistokimyasal ve Moleküler Özellikler Açısından Değerlendirilmesi

Abstract

Translocation type renal cell carcinomas (t-RCCs) are newly defined renal tubular epithelial tumors. The oncogenic activations of TFE3 and TFEB genes, which are two members of the microphthalmia-associa-transcription factor (MiTF) family, due to translocations and fusions with different partner genes plays a role in their pathogenesis. The clinical and pathological spectrum of these tumors, which are many times misdiagnosed because of the lack of knowledge regarding them, have not yet been fully demonstrated. In this study, 89 cases with the potential for t-RCC were identified among all renal cell carcinomas diagnosed in the Hacettepe University Medical School Department of Pathology between 2000 and 2018. In the fluorescence in-situ hybridization study, 32 were diagnosed as TFE3 and 3 were diagnosed as TFEB t-RCC. These thirty-five cases were analyzed and clinical, histomorphological and immunohistochemical features were determined. The clinical course of these tumors were documented and the relationship between their prognosis and morphological features was attempted to be determined. Thus, some of the histological findings show statistically significant correlation with general and disease-free survival. The different morphological features that are of prognostic significance are likely to be associated with different fusion gene partners. In our study, we aimed to analyze the genetic changes of tumors in a more detailed way and to use advanced molecular methods. However, the RT-PCR method used did not yield a result in formalin-fixed paraffin-embedded tumor samples.