TSC/mTOR Pathway Mutation Associated Eosinophilic/Oncocytic Renal Neoplasms: A Heterogeneous Group of Tumors with Distinct Morphology, Immunohistochemical Profile, and Similar Genetic Background

oleh: Kristyna Pivovarcikova, Reza Alaghehbandan, Tomas Vanecek, Riuko Ohashi, Tomas Pitra, Ondrej Hes

Format: Article
Diterbitkan: MDPI AG 2022-01-01

Deskripsi

A number of recently described renal tumor entities share an eosinophilic/oncocytic morphology, somewhat solid architectural growth pattern, and tendency to present as low-stage tumors. The vast majority of such tumors follow a non-aggressive clinical behavior. In this review, we discuss the morphological, immunohistochemical, and molecular genetic profiles of the three most recent novel/emerging renal entities associated with TSC/mTOR pathway mutations. These are eosinophilic solid and cystic renal cell carcinoma, eosinophilic vacuolated tumors, and low-grade oncocytic tumors, which belong to a heterogeneous group of renal tumors, demonstrating mostly solid architecture, eosinophilic/oncocytic cytoplasm, and overlapping morphological and immunohistochemical features between renal oncocytoma and chromophobe renal cell carcinoma. All three tumors also share a molecular genetic background with mutations in the mTORC1 pathway (<i>TSC1/TSC2/mTOR/RHEB</i>). Despite the common genetic background, it appears that the tumors with <i>TSC/mTOR</i> mutations represent a diverse group of distinct renal neoplasms.