A review of neoplasms with MITF/MiT family translocations

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18 Scopus citations


Microphthalmia-associated transcription factor (MITF/MiT) family is a group of basic helix-loop-helix leucine zipper (bHLH-LZ) transcription factors including TFE3 (TFEA), TFEB, TFEC and MITF. The first described neoplasms involving MITF family translocation were renal cell carcinomas with chromosome translocations involving ASPL-TFE3/t(X;17)(p11.23;q25) or MALAT1-TFEB/t(6;11) (p21.1;q12), and now it is known as MiT family translocation RCC in 2016 WHO classification. Translocations involving MITF family genes also are found in other tumor types, such as perivascular epithelioid cell neoplasm (PEComa), alveolar soft part sarcoma (ASPS), epithelioid hemangioendothelioma, ossifying fibromyxoid tumor (OFMT), and clear cell tumor with melanocytic differentiation and ACTIN-MITF translocation. In this review, we summarize the features of different types of neoplasms with MITF family translocations.

Original languageEnglish
Pages (from-to)311-321
Number of pages11
JournalHistology and Histopathology
Issue number4
StatePublished - Apr 2022


  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics
  • Carcinoma, Renal Cell/pathology
  • Humans
  • Kidney Neoplasms/pathology
  • Microphthalmia-Associated Transcription Factor/genetics
  • Oncogene Proteins, Fusion/genetics
  • Translocation, Genetic


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