t(6;11)(p21;q12)/TFEB gene fusion-associated renal cell carcinoma: a case report and review of literature

2017-08-15 14:06:04

International Journal of Clinical and Experimental Pathology; August 15, 2017

Jing Ma, Yingmei Wang, Yixiong Liu, Peifeng Li


t(6;11)(p21;q12)/TFEB gene fusion-associated renal cell carcinoma is a recently recognized renal cell
carcinoma caused by the formation of Alpha-TFEB fusion genes. Herein, we have reported a rare case. A 20-year-old
female patient presented with a mass measuring 4.1 cm × 3.3 cm in left kidney, and radical left nephrectomy was
performed. Then the patient underwent unmarkable prognosis without recurrence or metastasis in the 18-month
follow-up. Microscopic findings showed the tumor mainly composed of medium and large epithelioid cells with the
structures of solid nesting and pseudopapillary. The tumor cells showed well-circumscribed, abundant eosinophilic
cytoplasm and obvious small nucleoli. Furthermore, multifocal hemosiderin deposition and focal osseous metaplasia
were observed. The tumor cells were positive for E-cadherin and focally positive for HMB45, Melan-A, AE1/AE3,
Vimentin, RCC and CK19. FISH analysis for TFEB break-apart probe revealed a break-apart signal pattern meaning
TFEB gene rearrangement. t(6;11)(p21;q12)/TFEB gene fusion-associated renal cell carcinoma is a rare tumor that
mostly occurs in young adults with a beneficial prognosis. Diagnosis is usually performed according to the age of the patients, the pathologic morphology and immunophenotype. Positive TFEB expression in neoplastic cell nuclei can
be regarded as sensitive and specific diagnostic event for this type of tumor. TFEB gene break-apart and rearrangement in FISH test is crucial to the diagnosis of the disease.

Empire Genomic's TFEB Break Apart Probe was used in this publication.

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