![]() ![]() The gene hSNF/INI1/SMARCB1/BAF47 is a putative tumor suppressor gene expressed in all normal cells. The diagnosis of Xp11.2 translocation RCC is not defined based on morphological features, but rather the genetic identification of Xp11.2 translocation using florescent in situ hybridization (FISH). WHO subdivision of this entity includes a group of neoplasms distinguished by chromosomal Xp11.2 translocations resulting in the fusion of the transcription factor E3 (TFE3) gene to one of the different partners, including ASPSCR1, PRCC, NonO (p54 nrb), PSF and CLTC, with the consecutive overexpression of the chimeric protein TFE3. Renal cell carcinomas (RCCs) represent 90 % of all malignancies of the kidney in adults and <5 % of the malignancies in children. It is important to recognize this rare RCC with both TFE3 rearrangement and SMARCB1 inactivation, as the prognosis and therapeutic strategies, particularly targeted therapies for such tumors, might be different. DNA sequencing revealed a frameshift mutation in exon 4 of SMARCB1 gene. Break-apart florescence in situ hybridization and reverse transcription polymerase chain reaction confirmed TFE3 rearrangement on Xp11.2 and the presence of ASPSCR1-TFE3 fusion gene. Immunohistochemically (IHC), the tumor cells are positive for TFE3 and the renal tubular markers (PAX2 and PAX8), and completely negative for SMARCB1, an oncosuppressor protein. ![]() In some areas, non-adhesive tumor cells with eccentric nuclei were observed. The histological examination of the dissected left renal tumor showed an organoid architecture of the eosinophilic or clear neoplastic cells with necrosis and high mitotic activity. Here we present an unusual high-grade Xp11.2 translocation RCC with a rhabdoid feature and SMARCB1 (INI1) inactivation in a 40-year-old man with end-stage kidney disease. Xp11.2 translocation/transcription factor E3 (TFE3) rearrangement renal cell carcinoma (RCC) is a rare subtype of RCC with limited clinical and pathological data.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |