A review of neoplasms with MITF/MiT family translocations

Area of Science:

• Oncology
• Molecular Biology
• Genetics

Background:

• The Microphthalmia-associated transcription factor (MITF/MiT) family comprises key transcription factors (TFE3, TFEB, TFEC, MITF).
• Translocations involving MITF family genes are recognized drivers in specific neoplasms.
• MiT family translocation renal cell carcinoma (RCC) was defined in the 2016 WHO classification.

Purpose of the Study:

• To review and summarize the distinct features of neoplasms associated with MITF family translocations.
• To consolidate current knowledge on the molecular basis and pathological characteristics of these rare tumors.

Main Methods:

• Literature review of scientific publications and databases.
• Analysis of reported cases of neoplasms with MITF family gene involvement.
• Synthesis of pathological and genetic findings.

Main Results:

• MITF family translocations are identified in renal cell carcinomas (e.g., ASPL-TFE3, MALAT1-TFEB).
• These translocations are also found in diverse non-renal tumors, including perivascular epithelioid cell neoplasms (PEComa), Alveolar soft part sarcoma (ASPS), epithelioid hemangioendothelioma, ossifying fibromyxoid tumor (OFMT), and clear cell tumors with melanocytic differentiation (ACTIN-MITF).

Conclusions:

• MITF family translocations represent a unifying molecular feature across a spectrum of distinct neoplasms.
• Understanding these translocations is crucial for accurate diagnosis and classification of these rare tumors.