MiT/TFE Family Renal Cell Carcinoma.
MiT/TFE Family Renal Cell Carcinoma.
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DOI：
10.3390/genes14010151
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发表时间：
2023-01-05
期刊：
影响因子：
3.5
通讯作者：
Baba, Masaya
中科院分区：
文献类型：
--
作者：
Tang, Jinglong;Baba, Masaya
小眼畸形相关转录因子/转录因子E（MiT/TFE）家族转录因子是进化上保守的碱性螺旋-环-螺旋亮氨酸拉链（bHLH-Zip）转录因子，由MITF、TFEB、TFE 3和TFEC组成。MiT/TFE蛋白，除TFEC外，参与肾细胞癌（RCC）的发展。在MiT家族易位肾细胞癌（tRCC）的散发性RCC病例中观察到的大多数MiT/TFE转录因子改变是由染色体重排产生的嵌合蛋白。这些嵌合MiT/TFE蛋白保留了bHLH-Zip结构并作为致癌转录因子。MITF p.E318K的生殖系变体已被报道为RCC的风险因素。E318存在于MITF的SUMO化共有位点。p.E318K变体消除了K316上的SUMO化，这导致MITF转录活性的改变。只有少数病例的MITF p.E318K RCC已被报道，其临床特征尚未得到充分描述。临床医生识别MITF p.E318K RCC并考虑对未确诊的家族性RCC病例进行MITF生殖系检测是很重要的。本文综述了MiT/TFE转录因子参与肾细胞癌，无论是在散发性和遗传性病例。进一步阐明MiT/TFE家族的分子功能对于更好地诊断和治疗这些罕见疾病是必要的。
The microphthalmia-associated transcription factor/transcription factor E (MiT/TFE) family of transcription factors are evolutionarily conserved, basic helix–loop–helix leucine zipper (bHLH-Zip) transcription factors, consisting of MITF, TFEB, TFE3, and TFEC. MiT/TFE proteins, with the exception of TFEC, are involved in the development of renal cell carcinoma (RCC). Most of the MiT/TFE transcription factor alterations seen in sporadic RCC cases of MiT family translocation renal cell carcinoma (tRCC) are chimeric proteins generated by chromosomal rearrangements. These chimeric MiT/TFE proteins retain the bHLH-Zip structures and act as oncogenic transcription factors. The germline variant of MITF p.E318K has been reported as a risk factor for RCC. E 318 is present at the SUMOylation consensus site of MITF. The p.E318K variant abrogates SUMOylation on K 316, which results in alteration of MITF transcriptional activity. Only a few cases of MITF p.E318K RCC have been reported, and their clinical features have not yet been fully described. It would be important for clinicians to recognize MITF p.E318K RCC and consider MITF germline testing for undiagnosed familial RCC cases. This review outlines the involvement of the MiT/TFE transcription factors in RCC, both in sporadic and hereditary cases. Further elucidation of the molecular function of the MiT/TFE family is necessary for better diagnosis and treatment of these rare diseases.
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DOI：
10.1097/pas.0b013e3182613d8f
发表时间：
2012-10
期刊：
The American journal of surgical pathology
影响因子：
--
作者：
Argani P;Yonescu R;Morsberger L;Morris K;Netto GJ;Smith N;Gonzalez N;Illei PB;Ladanyi M;Griffin CA
通讯作者：
Griffin CA
影响因子：
23.4
作者：
Moch, Holger;Cubilla, Antonio L.;Ulbright, Thomas M.
通讯作者：
Ulbright, Thomas M.
影响因子：
4.6
作者：
Liu N;Guo W;Shi Q;Zhuang W;Pu X;Chen S;Qu F;Xu L;Zhao X;Li X;Zhang G;Guo H;Gan W;Li D
通讯作者：
Li D
影响因子：
64.8
作者：
Bertolotto, Corine;Lesueur, Fabienne;Bressac-de Paillerets, Brigitte
通讯作者：
Bressac-de Paillerets, Brigitte
影响因子：
4.3
作者：
Cronin JC;Wunderlich J;Loftus SK;Prickett TD;Wei X;Ridd K;Vemula S;Burrell AS;Agrawal NS;Lin JC;Banister CE;Buckhaults P;Rosenberg SA;Bastian BC;Pavan WJ;Samuels Y
通讯作者：
Samuels Y