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携带致病性 ATM 变异的高分化侵袭性 1 型胃神经内分泌肿瘤伴高级别特征(G3 NET):胃神经内分泌肿瘤临床和病理谱的新成员。

Pathogenic ATM Variant-Harbouring Well-Differentiated Aggressive Type 1 Gastric Neuroendocrine Tumour with High-grade Features (G3 NET): a New Addition to the Clinical and Pathological Spectrum of Gastric Neuroendocrine Neoplasms.

作者信息

Nassereddine Hussein, Chicaud Matthieu, Rebah Khedidja, Théou-Anton Nathalie, Sautet Anne, Dermer Jacques, Couvelard Anne

机构信息

Département de Pathologie, Hôpital Bichat, AP-HP, 46 Rue Henri Huchard, 75018, Paris, France.

Sorbonne Université, Paris, France.

出版信息

Endocr Pathol. 2021 Dec;32(4):517-523. doi: 10.1007/s12022-021-09681-2. Epub 2021 May 21.

DOI:10.1007/s12022-021-09681-2
PMID:34019237
Abstract

Gastric type 1 neuroendocrine tumours are considered to have low rates of proliferation and a good prognosis. We report here a patient with an aggressive well-differentiated high-grade gastric neuroendocrine tumour (gastric grade 3 NET), in a context of autoimmune gastritis. Consistent with grade 3 disease, the tumour had a Ki-67 proliferation index of 30%. Targeted next-generation sequencing identified variants of four genes, including a pathogenic ATM variant underlying the differentiation and metastatic potential of the tumour. Liver metastasis was diagnosed during follow-up, and the patient died after 6 years, due to disease progression.

摘要

胃1型神经内分泌肿瘤被认为增殖率低且预后良好。我们在此报告一名患有侵袭性高分化高级别胃神经内分泌肿瘤(胃3级神经内分泌肿瘤)的患者,其处于自身免疫性胃炎背景下。与3级疾病相符,该肿瘤的Ki-67增殖指数为30%。靶向二代测序鉴定出四个基因的变异,包括一个导致肿瘤分化和转移潜能的致病性ATM变异。随访期间诊断出肝转移,患者在6年后因疾病进展死亡。

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本文引用的文献

1
Tumour type and size are prognostic factors in gastric neuroendocrine neoplasia: A multicentre retrospective study.肿瘤类型和大小是胃神经内分泌肿瘤的预后因素:一项多中心回顾性研究。
Dig Liver Dis. 2019 Oct;51(10):1456-1460. doi: 10.1016/j.dld.2019.04.016. Epub 2019 Jun 5.
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The New World Health Organization Classification for Pancreatic Neuroendocrine Neoplasia.世界卫生组织胰腺神经内分泌肿瘤新分类。
Endocrinol Metab Clin North Am. 2018 Sep;47(3):463-470. doi: 10.1016/j.ecl.2018.04.008. Epub 2018 Jul 11.
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Prognostic Evaluations Tailored to Specific Gastric Neuroendocrine Neoplasms: Analysis Of 200 Cases with Extended Follow-Up.
针对特定胃神经内分泌肿瘤的预后评估:200 例延长随访病例分析。
Neuroendocrinology. 2018;107(2):114-126. doi: 10.1159/000489902. Epub 2018 Jun 12.
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Clinicopathological features and outcome of type 3 gastric neuroendocrine tumours.3 型胃神经内分泌肿瘤的临床病理特征和预后。
Br J Surg. 2018 Oct;105(11):1480-1486. doi: 10.1002/bjs.10901. Epub 2018 Jun 12.
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Gastroenteropancreatic Well-Differentiated Grade 3 Neuroendocrine Tumors: Review and Position Statement.胃肠胰高分化3级神经内分泌肿瘤:综述与立场声明
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Sporadic Gastric Well-Differentiated Neuroendocrine Tumors Have a Higher Ki-67 Proliferative Index.散发性胃高分化神经内分泌肿瘤具有较高的Ki-67增殖指数。
Endocr Pathol. 2016 Sep;27(3):259-67. doi: 10.1007/s12022-016-9443-6.
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Gastric neuroendocrine neoplasms and related precursor lesions.胃神经内分泌肿瘤及相关前驱病变
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Metastatic type 1 gastric carcinoid: a real threat or just a myth?胃 1 型类癌转移:是真实的威胁还是仅仅是个传说?
World J Gastroenterol. 2013 Dec 14;19(46):8687-95. doi: 10.3748/wjg.v19.i46.8687.