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Critical Reviews™ in Oncogenesis
SJR: 0.631 SNIP: 0.503 CiteScore™: 2.2

ISSN Print: 0893-9675
ISSN Online: 2162-6448

Critical Reviews™ in Oncogenesis

DOI: 10.1615/CritRevOncog.2017020558
pages 481-497

Xp11 Translocation Renal Cell Carcinoma and the Mesenchymal Counterparts: An Evolving Concept with Novel Insights on Clinicopathologic Features, Prognosis, Treatment, and Classification

Xiao-Tong Wang
Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu, China; Department of Pathology, Jinling Clinical Medical College, Nanjing Medical University, Nanjing, Jiangsu, China
Qiu-Yuan Xia
Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu, China
Xiao-Jun Zhou
Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu, China; Department of Pathology, Jinling Clinical Medical College, Nanjing Medical University, Nanjing, Jiangsu, China
Qiu Rao
Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu, China; Department of Pathology, Jinling Clinical Medical College, Nanjing Medical University, Nanjing, Jiangsu, China

ABSTRACT

The TFE3 gene is one of four members of the micropathalima-associated transcription factor family, along with TFEB, TFEC, and MiTF, located on chromosome Xp11.2. The site is notable for its involvement in translocation in Xp11 translocation renal cell carcinoma (RCC) and the mesenchymal counterparts, including Xp11 neoplasm with melanocytic differentiation/TFE3 rearrangement-associated perivascular epithelioid cell tumor (PEComa)/ melanotic Xp11 translocation renal cancer/melanotic Xp11 neoplasm, and alveolar soft-part sarcoma. By morphologic, immunohistochemical, genetic, and prognostic similarities, alveolar soft-part sarcoma with the ASPSCR1-TFE3 gene fusion has a closer relationship with Xp11 neoplasm with melanocytic differentiation/TFE3 rearrangement-associated PEComa/melanotic Xp11 translocation renal cancer/melanotic Xp11 neoplasm. These Xp11 translocation mesenchymal neoplasms may represent a distinct entity, which overlaps with Xp11 translocation RCC and broadens the spectrum of Xp11 translocation-associated neoplasms. The impact of individual fusion variants on specific clinicopathologic features of Xp11 translocation RCC has only recently been described. This review provides insight into the clinicopathologic features, prognosis, treatment, and classification of Xp11 translocation RCC and its mesenchymal counterparts, emphasizing the impact of individual fusion variants on specific clinicopathologic features of Xp11 translocation RCC and the relationships among these Xp11 translocation-associated neoplasms.


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