无症状的布鲁姆综合征在患有乳腺癌的患者身上偶然诊断出
Evgeny Suspitsin1,2, Darya Eliseyeva3, Olga Chiryaeva2,4
1Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Saint-Petersburg, Russia.
Familial cancer
|September 6, 2024
概括
布鲁姆综合征 (BS) 是由BLM基因突变引起的罕见遗传疾病,可呈现轻度症状,并且在癌症患者中偶然发现. 这凸显了需要将BLM纳入基因测试小组,以便早期诊断.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 布鲁姆综合征 (Bloom syndrome,简称BS) 是一种罕见的遗传疾病,由BLM基因的双性失活引起,通常在儿童时期出现生长迟缓,免疫缺陷和癌症倾向.
- 以前,BS诊断依赖于临床怀疑或基于家庭的遗传测试.
- 在无症状个体或具有轻度表型的人中很少报告BS的偶然发现.
研究的目的:
- 报告一名乳腺癌患者偶然发现的布鲁姆综合征.
- 为了调查这种偶然诊断的BS病例的临床和分子特征.
- 评估将BLM基因纳入癌症患者常规基因检测中的实用性.
主要方法:
- 连续乳腺癌患者的生殖细胞DNA分析.
- 鉴定了一种双致病性BLM变体 (c.1642C>T; p.Gln548Ter).
- 临床检查,姐妹染色体交换 (SCE) 试验和瘤分子概况 (受体状态,增殖率,TMB,HRD得分).
主要成果:
- 一个偶然诊断的布鲁姆综合征是在一个38岁的临床健康的女人,她患有乳腺癌.
- 在详细检查和确认阳性SCE测试后,该患者表现出轻微的BS特征.
- 她的三阴性乳腺瘤显示出高增殖率,低TMB和中度HRD.
- 患者耐受了标准的癌症疗法,包括放射治疗和化疗.
结论:
- 一些布鲁姆综合征患者可能由于轻度或缺乏早期症状而未被诊断.
- 应考虑将BLM基因纳入癌症患者生殖细胞DNA测试的基因组.
- 在癌症查中偶然发现BS突显了全面遗传分析的重要性.
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