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Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction.

作者信息

Malinowska Izabela, Kwiatkowski David J, Weiss Sharon, Martignoni Guido, Netto George, Argani Pedram

出版信息

Am J Surg Pathol. 2012 May;36(5):783-4. doi: 10.1097/PAS.0b013e31824a8a37.

DOI:10.1097/PAS.0b013e31824a8a37
PMID:22456611
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3327756/
Abstract
摘要

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1
Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction.携带TFE3基因重排的血管周围上皮样细胞瘤(PEComas)缺乏传统PEComas特有的TSC2改变:生物学差异的进一步证据。
Am J Surg Pathol. 2012 May;36(5):783-4. doi: 10.1097/PAS.0b013e31824a8a37.
2
A distinctive subset of PEComas harbors TFE3 gene fusions.具有独特特征的上皮样血管平滑肌脂肪瘤包含 TFE3 基因融合。
Am J Surg Pathol. 2010 Oct;34(10):1395-406. doi: 10.1097/PAS.0b013e3181f17ac0.
3
Expanding the histomorphologic spectrum of TFE3-rearranged perivascular epithelioid cell tumors.扩大 TFE3 重排的血管周上皮样细胞肿瘤的组织形态学谱。
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4
PSF/SFPQ is a very common gene fusion partner in TFE3 rearrangement-associated perivascular epithelioid cell tumors (PEComas) and melanotic Xp11 translocation renal cancers: clinicopathologic, immunohistochemical, and molecular characteristics suggesting classification as a distinct entity.PSF/SFPQ 是 TFE3 重排相关血管周上皮样细胞瘤(PEComa)和黑色素性 Xp11 易位肾细胞癌中非常常见的基因融合伙伴:提示分类为独特实体的临床病理、免疫组织化学和分子特征。
Am J Surg Pathol. 2015 Sep;39(9):1181-96. doi: 10.1097/PAS.0000000000000502.
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Cutaneous PEComa does not harbour TFE3 gene fusions: immunohistochemical and molecular study of 17 cases.皮肤的错构瘤性上皮样血管平滑肌脂肪瘤不含有 TFE3 基因融合:17 例的免疫组化和分子研究。
Histopathology. 2013 Jul;63(1):122-9. doi: 10.1111/his.12145. Epub 2013 May 24.
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Malignant perivascular epithelioid cell neoplasm (PEComa) of the urinary bladder with TFE3 gene rearrangement: clinicopathologic, immunohistochemical, and molecular features.膀胱恶性血管周上皮样细胞肿瘤(PEComa)伴 TFE3 基因重排:临床病理、免疫组织化学和分子特征。
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Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.子宫的上皮样血管平滑肌脂肪瘤:黑色素细胞标志物表达与 TSC 改变/TFE3 融合的相关性。
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Perivascular Epithelioid Cell Tumor of the Lung With a Novel Fusion.伴有新型融合的肺血管周上皮样细胞瘤
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本文引用的文献

1
Angiomyolipoma have common mutations in TSC2 but no other common genetic events.血管平滑肌脂肪瘤常见 TSC2 基因突变,但无其他常见遗传事件。
PLoS One. 2011;6(9):e24919. doi: 10.1371/journal.pone.0024919. Epub 2011 Sep 16.
2
Cathepsin K expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney.肾脏血管周上皮样细胞(PEC)病变谱中组织蛋白酶 K 的表达。
Mod Pathol. 2012 Jan;25(1):100-11. doi: 10.1038/modpathol.2011.136. Epub 2011 Aug 26.
3
Biology and clinical relevance of the micropthalmia family of transcription factors in human cancer.
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.
4
"Update on pediatric primary liver tumors".小儿原发性肝脏肿瘤的最新进展
Virchows Arch. 2025 Jan;486(1):23-47. doi: 10.1007/s00428-024-03985-4. Epub 2025 Jan 21.
5
Epithelioid angiomyolipoma with vascular invasion: An aggressive presentation of an unusual AML variant.伴血管侵犯的上皮样血管平滑肌脂肪瘤:一种不寻常的血管平滑肌脂肪瘤变异型的侵袭性表现。
Radiol Case Rep. 2024 Aug 12;19(11):4804-4808. doi: 10.1016/j.radcr.2024.07.098. eCollection 2024 Nov.
6
Uterine Mesenchymal Tumors: Updates on Pathology, Molecular Landscape, and Therapeutics.子宫间质肿瘤:病理学、分子图谱和治疗学的最新进展。
Medicina (Kaunas). 2024 Jul 2;60(7):1085. doi: 10.3390/medicina60071085.
7
TFE3 -Rearranged PEComa/PEComa-like Neoplasms : Report of 25 New Cases Expanding the Clinicopathologic Spectrum and Highlighting its Association With Prior Exposure to Chemotherapy.TFE3 重排的上皮样血管平滑肌脂肪瘤/上皮样血管平滑肌脂肪瘤样肿瘤:25 例新病例的临床病理谱扩大及强调其与先前化疗暴露相关的报告。
Am J Surg Pathol. 2024 Jul 1;48(7):777-789. doi: 10.1097/PAS.0000000000002218. Epub 2024 Apr 10.
8
β-hCG secreting uterine PEComa.分泌β-hCG 的子宫上皮样血管平滑肌肿瘤。
BMJ Case Rep. 2024 Jan 12;17(1):e256641. doi: 10.1136/bcr-2023-256641.
9
Perivascular epithelioid cell tumors (PEComas) of the bone and soft tissue: a Japanese Musculoskeletal Oncology Group (JMOG) multi-institutional study.骨与软组织的血管周上皮样细胞肿瘤(PEComas):一项日本肌肉骨骼肿瘤学组(JMOG)的多机构研究。
J Cancer Res Clin Oncol. 2023 Nov;149(14):13065-13075. doi: 10.1007/s00432-023-05114-1. Epub 2023 Jul 20.
10
Systemic Treatments and Molecular Biomarkers for Perivascular Epithelioid Cell Tumors: A Single-institution Retrospective Analysis.血管周上皮样细胞肿瘤的系统治疗和分子标志物:单中心回顾性分析。
Cancer Res Commun. 2023 Jul 12;3(7):1212-1223. doi: 10.1158/2767-9764.CRC-23-0139. eCollection 2023 Jul.
微小眼转录因子家族在人类癌症中的生物学和临床相关性。
J Clin Oncol. 2011 Sep 1;29(25):3474-82. doi: 10.1200/JCO.2010.32.6223. Epub 2011 Jun 13.
4
A distinctive subset of PEComas harbors TFE3 gene fusions.具有独特特征的上皮样血管平滑肌脂肪瘤包含 TFE3 基因融合。
Am J Surg Pathol. 2010 Oct;34(10):1395-406. doi: 10.1097/PAS.0b013e3181f17ac0.
5
Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors.西罗莫司抑制 mTOR 在恶性血管周上皮样细胞肿瘤中的临床活性:针对肿瘤中 mTORC1 的致病激活。
J Clin Oncol. 2010 Feb 10;28(5):835-40. doi: 10.1200/JCO.2009.25.2981. Epub 2010 Jan 4.
6
Perivascular epithelioid cell neoplasms: pathology and pathogenesis.血管周上皮样细胞瘤:病理学与发病机制
Hum Pathol. 2010 Jan;41(1):1-15. doi: 10.1016/j.humpath.2009.05.011. Epub 2009 Jul 15.
7
Perivascular epithelioid cell tumor.血管周上皮样细胞肿瘤
Arch Pathol Lab Med. 2009 Apr;133(4):648-54. doi: 10.5858/133.4.648.
8
Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma.黑素性Xp11易位性肾癌:一种具有PEComa、癌和黑色素瘤重叠特征的独特肿瘤。
Am J Surg Pathol. 2009 Apr;33(4):609-19. doi: 10.1097/PAS.0b013e31818fbdff.
9
Constant allelic alteration on chromosome 16p (TSC2 gene) in perivascular epithelioid cell tumour (PEComa): genetic evidence for the relationship of PEComa with angiomyolipoma.血管周上皮样细胞肿瘤(PEComa)中16号染色体短臂(TSC2基因)的恒定等位基因改变:PEComa与血管平滑肌脂肪瘤关系的遗传学证据
J Pathol. 2008 Feb;214(3):387-93. doi: 10.1002/path.2289.
10
PEComas: the past, the present and the future.血管周上皮样细胞瘤:过去、现在与未来
Virchows Arch. 2008 Feb;452(2):119-32. doi: 10.1007/s00428-007-0509-1. Epub 2007 Dec 14.