Microphthalmia family of transcription factors associated renal cell carcinoma

Ling Xie; Yifen Zhang; Chin-Lee Wu

doi:10.1016/j.ajur.2019.04.003

Microphthalmia family of transcription factors associated renal cell carcinoma

Asian J Urol. 2019 Oct;6(4):312-320. doi: 10.1016/j.ajur.2019.04.003. Epub 2019 May 3.

Authors

Ling Xie^{1

2}, Yifen Zhang¹, Chin-Lee Wu²

Affiliations

¹ Department of Pathology, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, China.
² Department of Pathology and Urology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

Abstract

The microphthalmia (MiT) subfamily of transcription factors includes TFE3, TFEB, TFEC, and MITF. In the 2016 World Health Organization classification, MiT family translocation renal cell carcinoma (tRCC) including Xp11 tRCC and t(6;11) RCC, was newly defined as an RCC subtype. Xp11 and t(6;11) RCC are characterized by the rearrangement of the MiT transcription factors TFE3 and TFEB, respectively. Recent studies identified the fusion partner-dependent clinicopathological and immunohistochemical features in TFE3-rearranged RCC. Furthermore, RCC with TFEB amplification, melanotic MiT family translocation neoplasms, was identified may as a unique subtype of MiT family associated renal neoplasms, along with MITF associated RCC. In this review, we will collect available literature of these newly-described RCCs, analyze their clinicopathological and immunohistochemical features, and summarize their molecular and genetic evidences. We expect this review would be beneficial for the understanding of these rare subtypes of RCCs, and eventually promote clinical management strategies.

Keywords: Kidney; MITF; Microphthalmia; Renal cell carcinoma; TFE3; TFEB; Translocation.

Publication types

Review