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A review of neoplasms with MITF/MiT family translocations

    1. [1] Fox Chase Cancer Center

      Fox Chase Cancer Center

      City of Philadelphia, Estados Unidos

    2. [2] Johns Hopkins Hospital

      Johns Hopkins Hospital

      Estados Unidos

  • Localización: Histology and histopathology: cellular and molecular biology, ISSN-e 1699-5848, ISSN 0213-3911, Vol. 37, Nº. 4, 2022, págs. 311-321
  • Idioma: inglés
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  • Resumen
    • Microphthalmia-associated transcription factor (MITF/MiT) family is a group of basic helix-loophelix 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 ASPLTFE3/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 ACTINMITF translocation. In this review, we summarize the features of different types of neoplasms with MITF family translocations.


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