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Cardiac intimal sarcoma with PDGFRβ mutation and co-amplification of PDGFRα and MDM2: an autopsy case analyzed by whole-exome sequencing.

作者信息

Ito Yukinobu, Maeda Daichi, Yoshida Makoto, Yoshida Akihiko, Kudo-Asabe Yukitsugu, Nanjyo Hiroshi, Izumi Chikako, Yamamoto Fumio, Inoue Masahiro, Shibata Hiroyuki, Katoh Hiroto, Ishikawa Shumpei, Nakamura Hiromi, Totoki Yasushi, Shibata Tatsuhiro, Yachida Shinichi, Goto Akiteru

机构信息

Department of Cellular and Organ Pathology, Graduate School of Medicine, Akita University, 1-1-1 Hondo, Akita, Akita, 010-8543, Japan.

Department of Pathology and Clinical Laboratories, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.

出版信息

Virchows Arch. 2017 Sep;471(3):423-428. doi: 10.1007/s00428-017-2135-x. Epub 2017 May 4.

DOI:10.1007/s00428-017-2135-x
PMID:28474091
Abstract
摘要

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2
MDM2 dual-color in situ hybridization (DISH) aids the diagnosis of intimal sarcomas.MDM2 双色原位杂交（DISH）有助于内膜肉瘤的诊断。
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Primary cardiac undifferentiated pleomorphic sarcoma is associated with TP53 mutation during lack of MDM2 amplification, and targeted sequencing analysis reveals potentially actionable targets.原发性心脏未分化多形性肉瘤与MDM2未扩增时的TP53突变相关，靶向测序分析揭示了潜在的可操作靶点。
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Intimal sarcomas and undifferentiated cardiac sarcomas carry mutually exclusive MDM2, MDM4, and CDK6 amplifications and share a common DNA methylation signature.内膜肉瘤和未分化的心脏肉瘤携带相互排斥的 MDM2、MDM4 和 CDK6 扩增，并且具有共同的 DNA 甲基化特征。
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本文引用的文献

1
PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.散发性婴儿肌纤维瘤病中的血小板衍生生长因子受体B功能获得性突变
Hum Mol Genet. 2017 May 15;26(10):1801-1810. doi: 10.1093/hmg/ddx081.
2
Recurrent Somatic PDGFRB Mutations in Sporadic Infantile/Solitary Adult Myofibromas But Not in Angioleiomyomas and Myopericytomas.散发性婴儿/孤立性成人肌纤维瘤中存在复发性体细胞PDGFRB突变，而血管平滑肌瘤和肌周细胞瘤中则不存在。
Am J Surg Pathol. 2017 Feb;41(2):195-203. doi: 10.1097/PAS.0000000000000752.
3
Primary Retroperitoneal Myxoid Liposarcomas.
病例报告：探索N666K突变型心脏内膜肉瘤的治疗途径
Front Oncol. 2024 Apr 5;14:1362347. doi: 10.3389/fonc.2024.1362347. eCollection 2024.
4
Intimal Sarcoma with MDM2/CDK4 Amplification and p16 Overexpression: A Review of Histological Features in Primary Tumor and Xenograft, with Immunophenotype and Molecular Profiling.MDM2/CDK4 扩增和 p16 过表达的内膜肉瘤：原发肿瘤和异种移植物的组织学特征回顾，包括免疫表型和分子分析。
Int J Mol Sci. 2023 Apr 19;24(8):7535. doi: 10.3390/ijms24087535.
5
Pulmonary Artery Intimal Sarcoma in a Patient with Lynch Syndrome: Response to an Immune Checkpoint Inhibitor.林奇综合征患者的肺动脉内膜肉瘤：对免疫检查点抑制剂的反应
Case Rep Oncol. 2023 Jan 27;16(1):21-29. doi: 10.1159/000528682. eCollection 2023 Jan-Dec.
6
Intimal sarcomas and undifferentiated cardiac sarcomas carry mutually exclusive MDM2, MDM4, and CDK6 amplifications and share a common DNA methylation signature.内膜肉瘤和未分化的心脏肉瘤携带相互排斥的 MDM2、MDM4 和 CDK6 扩增，并且具有共同的 DNA 甲基化特征。
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Virchows Arch. 2020 Nov;477(5):661-666. doi: 10.1007/s00428-020-02813-9. Epub 2020 May 15.
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Unique Aberrations in Intimal Sarcoma Identified by Next-Generation Sequencing as Potential Therapy Targets.通过下一代测序确定的内膜肉瘤独特畸变作为潜在治疗靶点
Cancers (Basel). 2019 Aug 31;11(9):1283. doi: 10.3390/cancers11091283.
原发性腹膜后黏液样脂肪肉瘤
Am J Surg Pathol. 2016 Sep;40(9):1286-90. doi: 10.1097/PAS.0000000000000657.
4
Fusion of PDGFRB to MPRIP, CPSF6, and GOLGB1 in three patients with eosinophilia-associated myeloproliferative neoplasms.三名嗜酸性粒细胞增多相关骨髓增殖性肿瘤患者中PDGFRB与MPRIP、CPSF6和GOLGB1的融合
Genes Chromosomes Cancer. 2015 Dec;54(12):762-70. doi: 10.1002/gcc.22287. Epub 2015 Sep 10.
5
Intimal sarcoma of the abdominal aorta with platelet-derived growth factor receptor α overexpression and amplification in mural invasive cells and pulmonary metastatic cells but not in intimal spreading cells.腹主动脉内膜肉瘤，血小板衍生生长因子受体α在壁层浸润细胞和肺转移细胞中过表达并扩增，但在内膜播散细胞中无此现象。
Pathol Int. 2015 Aug;65(8):426-31. doi: 10.1111/pin.12308. Epub 2015 May 22.
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TRIP11-PDGFRB fusion in a patient with a therapy-related myeloid neoplasm with t(5;14)(q33;q32) after treatment for acute promyelocytic leukemia.急性早幼粒细胞白血病治疗后，一名患有t(5;14)(q33;q32)的治疗相关髓系肿瘤患者出现TRIP11-PDGFRB融合。
Mol Cytogenet. 2014 Dec 23;7(1):103. doi: 10.1186/s13039-014-0103-6. eCollection 2014.
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Trans-ancestry mutational landscape of hepatocellular carcinoma genomes.跨种族肝细胞癌基因组的突变特征。
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Intimal sarcoma is the most frequent primary cardiac sarcoma: clinicopathologic and molecular retrospective analysis of 100 primary cardiac sarcomas.内膜肉瘤是最常见的原发性心脏肉瘤：100 例原发性心脏肉瘤的临床病理和分子回顾性分析。
Am J Surg Pathol. 2014 Apr;38(4):461-9. doi: 10.1097/PAS.0000000000000184.
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Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm.系统筛选酪氨酸激酶重排发现一例复发性 T-ALL 伴相关骨髓增殖性肿瘤患者的 C6orf204-PDGFRB 融合。
Genes Chromosomes Cancer. 2012 Jan;51(1):54-65. doi: 10.1002/gcc.20930. Epub 2011 Sep 21.