A review of neoplasms with MITF/MiT family translocations.
A review of neoplasms with MITF/MiT family translocations.
复制标题
MITF/MiT 家族易位肿瘤的综述。
DOI：
10.14670/hh-18-426
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发表时间：
2022
影响因子：
2
通讯作者：
P. Argani
中科院分区：
文献类型：
--
作者：
Shuanzeng Wei;J. Testa;P. Argani
小眼相关转录因子（MITF/MiT）家族是一组基本的螺旋-环-螺旋亮氨酸拉链（bHLH-LZ）转录因子，包括TFE3 （TFEA）、TFEB、TFEC和MITF。最早涉及MITF家族易位的肾肿瘤是染色体易位涉及ASPL-TFE3/t(X;17)（p11.23;q25）或MALAT1-TFEB/t(6;11)（p21.1;q12）的肾细胞癌，目前在2016年WHO分类中被称为MiT家族易位RCC。涉及MITF家族基因的易位也见于其他类型的肿瘤，如血管周围上皮样细胞瘤（PEComa）、肺泡软组织肉瘤（ASPS）、上皮样血管内皮瘤、骨化纤维黏液样肿瘤（OFMT）以及伴有黑色素细胞分化和ACTIN-MITF易位的透明细胞肿瘤。在这篇综述中，我们总结了不同类型的肿瘤与MITF家族易位的特点。
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 renal 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.