![]() In contrast, conventional clear cell RCCs make up 70% of RCCs in adults and 53% in young adults, but the incidence of Xp11.2 translocation RCCs in adults and young adults is much smaller (estimated to be perhaps 1%). It is estimated that approximately one-third of pediatric RCCs are Xp11.2 translocation RCCs, whereas conventional clear cell RCCs make up about 15% of pediatric RCCs. Xp11.2/TFE3 translocation renal cell carcinomas (RCCs), a recently classified distinct subtype, are rare tumors that usually affect children and adolescents, with only few reported adult cases to date. Unlike most recently reported Xp11.2 translocation RCCs in adult patients with aggressive clinical course, this adult case occurring during pregnancy with a novel translocation involving chromosome 19 followed an indolent clinical course. She received no adjuvant therapy, delivered a normal term baby five months later, and is alive without evidence of disease 27 months after diagnosis and surgery. Interphase FISH analysis performed on cultured and uncultured tumor cells using a dual-color break-apart DNA probe within the BC元 gene on 19q13.3 was negative for the BC元 gene rearrangement. Cytogenetically, the tumor harbored a novel variant translocation involving chromosomes X and 19, t(X 19)(p11.2 q13.1). BerEP4 and carbonic anhydrase IX were negative. Cytokeratin 7, renal cell carcinoma antigen, and colloidal iron were focally weakly positive. Cytokeratin AE1/AE3, cytokeratin CAM-5.2, calveolin, and parvalbumin were moderately positive. Epithelial membrane antigen, CD10, and E-cadherin were strongly positive. Immunohistochemically, the tumor showed strong nuclear positivity for TFE3. Occasional hyaline nodules and numerous psammoma bodies were present. Microscopically, the tumor consisted of clear and eosinophilic/oncocytic voluminous cells arranged in papillary, trabecular, and nested/alveolar patterns. Macroscopically, the cystic tumor was well encapsulated with multiple friable mural nodules on its inner surface. She underwent right radical nephrectomy at 15 weeks gestation. Further radiologic studies revealed unilocular cyst with multiple mural nodules at inferior pole of right kidney, which was suspicious for RCC. Her routine antenatal ultrasonography accidentally found a complex cystic right renal mass. Here, we present a case of Xp11.2 translocation RCC in 26-year-old pregnant female. They comprise at least one-third of pediatric RCCs and only few adult cases have been reported. The recently recognized renal cell carcinomas (RCCs) associated with Xp11.2 translocations (TFE3 transcription factor gene fusions) are rare tumors predominantly reported in children. ![]()
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March 2023
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