管理儿童 CDH1 癌症风险：遗传性弥漫性胃癌家庭的复杂决策。

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY

American Journal of Medical Genetics Part A Pub Date : 2024-10-11 DOI:10.1002/ajmg.a.63897

Nihat Bugra Agaoglu, Ozden Hatirnaz Ng, Itir Ebru Zemheri, Busra Unal, Nelgin Gerenli, Ilkay Tosun, Hulya Yazıcı, Ugur Ozbek, Junne Kamihara, Huma Q Rana

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引用次数: 0

摘要

CDH1 基因致病变体 (PV) 可导致遗传性弥漫性胃癌。对有阳性家族史的 CDH1 病例的治疗包括全胃切除术或强化监测。在本研究中，我们报告了一名患有粘膜内胃石样环细胞的 16 岁男孩，他的基因中含有 CDH1 PV，且家族中有早发胃癌病史。临床医生和患者家庭都面临着一个挑战，那就是如何同时治疗这名疑似患者及其同样患有 CDH1 PV 的 9 岁姐姐。在此，我们介绍了在有早发胃癌家族史的儿童期发现 CDH1 PV 时管理胃癌风险的复杂性。

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Managing CDH1 Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer.

Germline pathogenic variants (PVs) in CDH1 cause hereditary diffuse gastric cancer. The management of CDH1 cases with a positive family history includes total prophylactic gastrectomy or intensive surveillance. In this study, we report a 16-year-old boy with intramucosal gastric signet ring cells in the setting of a germline CDH1 PV and a family history of early-onset gastric cancer. The approach to managing both the proband and their 9-year-old sister, who also had the CDH1 PV, presented a challenge to both clinicians and the family. Herein, we present the complexities of managing gastric cancer risk when a CDH1 PV is identified in childhood in the setting of a family history of early-onset gastric cancer.

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来源期刊

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .