Renal cell carcinoma with TFE3 translocation and succinate dehydrogenase B mutation

摘要: Translocation renal cell carcinoma and succinate dehydrogenase (SDH)-deficient are now recognized as specific tumor types in the World Health Organization (WHO) classification. Both have limited immunohistochemical positivity for epithelial markers, spectrum of morphology continues to widen both these entities. We identified four carcinomas with positive TFE3 staining negative SDHB staining. The patients (2F, 2M) ranged age from 19 65 years. All tumors were composed, at least part, eosinophilic cells. Cytoplasmic inclusions, prominent nucleoli, mitotic figures seen three tumors. Psammoma bodies also present two Using immunohistochemistry, a broad commonly used markers yielded nonspecific, positivity, including uniformly reactions PAX8 but results cathepsin K HMB45. Fluorescence situ hybridization showed presence gene rearrangement all tumors, molecular analysis revealed mutations neoplastic cells In one case, same mutation was confirmed adjacent non-neoplastic tissue. report first time translocation tumor.