MiT family translocation renal cell carcinoma

Xp11.2 translocation renal cell carcinoma with osseous metaplasia

“…MiT Xp11.2 RCC is an uncommon renal malignancy that comprises up to 40% of pediatric and up to 4% of adult RCC, with a better prognosis in children than in adults. 1,5 The most commonly observed Xp translocations are t(X;1) (p11.2;q21), t(X;17) (p11.2;q25), and t(X;1) (p11.2;p34) fusing respectively the PRCC and TFE3 genes, the ASPL and TFE3 genes, and the SFPQ (PSF) and TFE3 genes. 5…”

“…About 400 genetically confirmed Xp11 translocation RCCs have been reported in the literature, with a slight female predominance (F:M=1.6:1) and a variable clinical presentation, with one third being asymptomatic. 1,5 Renal tumors are frequently incidentally diagnosed or usually suspected on ultrasound then confirmed on CT-IVP or magnetic resonance imaging. 6 Unlike conventional RCCs, which are associated with smoking, hypertension, family history, and obesity, the Xp11.2 translocation is associated with prior exposure to cytotoxic chemotherapy.…”

“…6 Unlike conventional RCCs, which are associated with smoking, hypertension, family history, and obesity, the Xp11.2 translocation is associated with prior exposure to cytotoxic chemotherapy. 1,5 Our patient was an adolescent male who had had no previous exposure to cytotoxic chemotherapy and who presented with symptomatic anemia as a result of painless hematuria.…”

“…Microphthalmia family translocation (MiT) renal cell carcinomas (RCCs) are rare renal neoplasms comprising rearrangements of TFE3 on chromosome 11 (Xp11.2 locus) and TFEB loci on chromosome 6. 1 They are more prevalent among children and young adults. Adults usually present with very aggressive, metastatic disease at the time of diagnosis with worse prognosis compared to younger patients.…”

“…RCCs related to Xp11.2 translocation represent up to 40% of RCCs among pediatric patients and are usually associated with exposure to chemotherapy as the only risk factor, whereas the conventional forms are associated with hypertension, obesity, and smoking. 1 Osseous metaplasia with RCC is extremely rare, and fewer than 20 cases have been reported in the literature, mostly associated with clear cell, papillary, and chromophobe subtypes. After a thorough search of the literature, we could only find one reported case of Xp11.2 translocation RCC with osseous metaplasia in an elderly woman and none in adolescents.…”