Aggressive renal cell carcinoma with biphasic papillary and solid clear cell features harboring IDH2 (R172M) mutation

Pathol Res Pract. 2024 Jan 3;253:155090. doi: 10.1016/j.prp.2024.155090. Online ahead of print.ABSTRACTRenal cell carcinoma (RCC) is fundamentally a metabolic disease, and RCC associated with mutation of the Krebs cycle enzyme genes include fumarate hydratase-deficient and succinate dehydrogenase-deficient RCC. Most recently, the mutation of isocitrate dehydrogenase 2 (IDH2) has been suggested as the third Krebs cycle enzyme alteration to be associated with oncometabolite-induced RCC tumorigenesis. Herein, we report the second case of RCC harboring an IDH2 (R127M) mutation identified by targeted next-generation sequencing and further confirmed by reverse transcription polymerase chain reaction and Sanger sequencing. This tumor demonstrated a distinctive biphasic morphology, characterized by mixture of a clear cells solid component and an eosinophilic papillary component. These two components were intermingled and formed variably sized nodular or nested structures. Unfavorable histologic features, including infiltration into the perirenal and renal sinus adipose tissues, high nuclei grade, rhabdoid tumor cells, and focal tumor necrosis, were observed. The patient had local lymph nodes metastases at diagnosis and developed brain metastases 3 months after the surgery. This peculiar case provides further insights into RCCs harboring IDH2 mutations.PMID:38181579 | DOI:10.1016/j.prp.2024.155090
Source: Pathology, Research and Practice - Category: Pathology Authors: Source Type: research