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MiT家族易位性肾细胞癌:15周年更新

MiT family translocation renal cell carcinomas: A 15th anniversary update.

作者信息

Gandhi Jatin S, Malik Faizan, Amin Mahul B, Argani Pedram, Bahrami Armita

机构信息

Department of Pathology, University of Tennessee Health Science Center, Memphis, TN, USA.

Department of Pathology, John Hopkins University, Baltimore, MD, USA.

出版信息

Histol Histopathol. 2020 Feb;35(2):125-136. doi: 10.14670/HH-18-159. Epub 2019 Sep 6.

DOI:10.14670/HH-18-159
PMID:31489603
Abstract

Microphthalmia (MiT) family translocation renal cell carcinomas (RCCs) are a heterogeneous category of renal tumors which all express MiT transcription factors, typically from chromosomal translocation and rarely from gene amplification. This tumor family has two major subtypes [i.e., Xp11 translocation RCC and t(6;11) RCC] and several related neoplasms (i.e., TFEB amplification RCC and melanotic Xp11 translocation renal cancers). Increased understanding of the clinical, pathological, molecular and prognostic heterogeneity of these tumors, since their official recognition in 2004, provides the opportunity to identify prognostic biomarkers and to understand the reasons for tumor aggression. We will review the literature from the past 15 years and highlight the need for a greater understanding of the molecular mechanisms underpinning heterogeneous tumor behavior.

摘要

小眼畸形(MiT)家族易位性肾细胞癌(RCC)是一类异质性肾肿瘤,所有这些肿瘤均表达MiT转录因子,通常源于染色体易位,很少源于基因扩增。该肿瘤家族有两个主要亚型[即Xp11易位性RCC和t(6;11)RCC]以及几种相关肿瘤(即TFEB扩增性RCC和黑色素性Xp11易位性肾癌)。自2004年这些肿瘤被正式确认以来,对其临床、病理、分子及预后异质性的认识不断增加,这为识别预后生物标志物及理解肿瘤侵袭的原因提供了机会。我们将回顾过去15年的文献,并强调更深入了解支撑异质性肿瘤行为的分子机制的必要性。

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1
MiT family translocation renal cell carcinomas: A 15th anniversary update.MiT家族易位性肾细胞癌:15周年更新
Histol Histopathol. 2020 Feb;35(2):125-136. doi: 10.14670/HH-18-159. Epub 2019 Sep 6.
2
MiT family translocation renal cell carcinoma.MiT家族易位性肾细胞癌
Semin Diagn Pathol. 2015 Mar;32(2):103-13. doi: 10.1053/j.semdp.2015.02.003. Epub 2015 Feb 4.
3
Molecular mechanisms underlying the MiT translocation subgroup of renal cell carcinomas.肾细胞癌MiT易位亚组的分子机制
Cytogenet Genome Res. 2007;118(2-4):157-65. doi: 10.1159/000108296.
4
Melanotic MiT family translocation neoplasms: Expanding the clinical and molecular spectrum of this unique entity of tumors.黑色素性MiT家族易位性肿瘤:拓展这一独特肿瘤实体的临床和分子谱
Pathol Res Pract. 2017 Nov;213(11):1412-1418. doi: 10.1016/j.prp.2017.08.004. Epub 2017 Aug 25.
5
Novel gene fusion of PRCC-MITF defines a new member of MiT family translocation renal cell carcinoma: clinicopathological analysis and detection of the gene fusion by RNA sequencing and FISH.新型 PRCC-MITF 基因融合定义了 MiT 家族易位性肾细胞癌的一个新成员:临床病理分析及通过 RNA 测序和 FISH 检测基因融合。
Histopathology. 2018 Apr;72(5):786-794. doi: 10.1111/his.13439. Epub 2018 Jan 10.
6
MiT Family Translocation-Associated Renal Cell Carcinoma: A Contemporary Update With Emphasis on Morphologic, Immunophenotypic, and Molecular Mimics.MiT家族易位相关性肾细胞癌:当代最新进展,重点关注形态学、免疫表型及分子模拟物
Arch Pathol Lab Med. 2015 Oct;139(10):1224-33. doi: 10.5858/arpa.2015-0196-RA.
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Translocation renal cell carcinomas: an evolving entity and a member of the microphthalmia transcription factor-associated family of tumors.易位性肾细胞癌:一种不断演变的实体,是小眼转录因子相关肿瘤家族的一员。
Clin Genitourin Cancer. 2013 Sep;11(3):357-61. doi: 10.1016/j.clgc.2012.12.006. Epub 2013 Jan 16.
8
[Clinicopathologic and molecular genetic study of renal cell carcinoma occurring in teenagers].青少年肾细胞癌的临床病理及分子遗传学研究
Zhonghua Bing Li Xue Za Zhi. 2010 Sep;39(9):582-6.
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Cyto-histological correlation of Xp11.2 translocation/TFE3 gene fusion associated renal cell carcinoma: Report of a case with review of literature.Xp11.2易位/TFE3基因融合相关性肾细胞癌的细胞-组织学相关性:1例报告并文献复习
Diagn Cytopathol. 2018 Mar;46(3):267-270. doi: 10.1002/dc.23839. Epub 2017 Oct 12.
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MiT family translocation renal cell carcinoma in an elderly male.老年男性的 MiT 家族易位相关性肾细胞癌。
Indian J Pathol Microbiol. 2021 Jul-Sep;64(3):553-555. doi: 10.4103/IJPM.IJPM_365_20.

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1
Multi-institutional Analysis of Immune-Oncology Combination Therapy for Metastatic MiT Family Translocation Renal Cell Carcinoma.转移性MiT家族易位性肾细胞癌免疫肿瘤联合治疗的多机构分析
J Immunother. 2025 Apr 1;48(3):113-117. doi: 10.1097/CJI.0000000000000549. Epub 2025 Feb 4.
2
Hallmark discoveries in the biology of non-Wilms tumour childhood kidney cancers.儿童非肾母细胞瘤性肾癌生物学的标志性发现。
Nat Rev Urol. 2025 Jan 29. doi: 10.1038/s41585-024-00993-6.
3
Management of translocation carcinomas of the kidney.肾移行细胞癌的管理

本文引用的文献

1
Histological and molecular characterization of TFEB-rearranged renal cell carcinomas.TFEB 重排肾细胞癌的组织学和分子特征。
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NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma.NEAT1-TFE3 和 KAT6A-TFE3 肾细胞癌,MiT 家族易位肾细胞癌的新成员。
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Clinical and pathological heterogeneity of four common fusion subtypes in Xp11.2 translocation renal cell carcinoma.Xp11.2易位性肾细胞癌中四种常见融合亚型的临床和病理异质性
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Renal Cell Carcinomas: Report of Two New Cases and Review of the Literature Confirming Nearly Universal Multilocular Cystic Morphology.肾细胞癌:两例新病例报告,并复习文献证实几乎普遍存在多房囊性形态。
Int J Surg Pathol. 2023 Jun;31(4):409-414. doi: 10.1177/10668969221143455. Epub 2023 Jan 2.
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Tumorigenesis Mechanisms Found in Hereditary Renal Cell Carcinoma: A Review.遗传性肾细胞癌中的肿瘤发生机制:综述。
Genes (Basel). 2022 Nov 15;13(11):2122. doi: 10.3390/genes13112122.
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A review of neoplasms with MITF/MiT family translocations.MITF/MiT 家族易位相关性肿瘤的研究进展。
Histol Histopathol. 2022 Apr;37(4):311-321. doi: 10.14670/HH-18-426. Epub 2022 Feb 2.
9
Contrast-Enhanced Ultrasound Features of Adult Xp11.2 Translocation Renal Cell Carcinoma: Differential Diagnosis With Three Main Renal Cell Carcinoma Subtypes.成人 Xp11.2 易位性肾细胞癌的超声造影特征:与三种主要肾细胞癌亚型的鉴别诊断。
J Ultrasound Med. 2022 Nov;41(11):2673-2685. doi: 10.1002/jum.15951. Epub 2022 Feb 1.
10
GPNMB expression identifies TSC1/2/mTOR-associated and MiT family translocation-driven renal neoplasms.GPNMB 表达可识别 TSC1/2/mTOR 相关和 MiT 家族易位驱动的肾脏肿瘤。
J Pathol. 2022 Jun;257(2):158-171. doi: 10.1002/path.5875. Epub 2022 Mar 29.
在 TFEB 基因改变的肾细胞癌中存在 VEGFA 扩增/基因拷贝数增加和 VEGFA mRNA 表达。
Mod Pathol. 2019 Feb;32(2):258-268. doi: 10.1038/s41379-018-0128-1. Epub 2018 Sep 11.
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Melanotic Xp11 translocation renal cancer: a report of a distinctive case and a review of the literature.黑素性Xp11易位性肾癌:1例特殊病例报告及文献复习
Diagn Pathol. 2018 Aug 13;13(1):51. doi: 10.1186/s13000-018-0731-y.
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Therapeutic Targeting of TFE3/IRS-1/PI3K/mTOR Axis in Translocation Renal Cell Carcinoma.TFE3/IRS-1/PI3K/mTOR 轴在易位性肾细胞癌中的治疗靶点。
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RNA sequencing of Xp11 translocation-associated cancers reveals novel gene fusions and distinctive clinicopathologic correlations.Xp11 易位相关性癌症的 RNA 测序揭示了新的基因融合和独特的临床病理相关性。
Mod Pathol. 2018 Sep;31(9):1346-1360. doi: 10.1038/s41379-018-0051-5. Epub 2018 Apr 30.
7
Renal Cell Carcinoma Associated With Xp11.2 Translocation/TFE3 Gene-fusion: A Long Response to mammalian target of rapamycin (mTOR) Inhibitors.与Xp11.2易位/TFE3基因融合相关的肾细胞癌:对雷帕霉素哺乳动物靶点(mTOR)抑制剂的长期反应。
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Genes Chromosomes Cancer. 2018 Mar;57(3):99-113. doi: 10.1002/gcc.22513. Epub 2017 Dec 20.
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t(6;11) renal cell carcinoma: a study of seven cases including two with aggressive behavior, and utility of CD68 (PG-M1) in the differential diagnosis with pure epithelioid PEComa/epithelioid angiomyolipoma.t(6;11) 肾细胞癌:七例病例研究,包括两例侵袭性行为病例,以及 CD68(PG-M1)在与纯上皮样 PEComa/上皮样血管平滑肌脂肪瘤的鉴别诊断中的应用。
Mod Pathol. 2018 Mar;31(3):474-487. doi: 10.1038/modpathol.2017.144. Epub 2017 Oct 20.
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Melanotic MiT family translocation neoplasms: Expanding the clinical and molecular spectrum of this unique entity of tumors.黑色素性MiT家族易位性肿瘤:拓展这一独特肿瘤实体的临床和分子谱
Pathol Res Pract. 2017 Nov;213(11):1412-1418. doi: 10.1016/j.prp.2017.08.004. Epub 2017 Aug 25.