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患有生殖线SUFU突变的患者的临床病理学和分子谱:一个病例系列

Mashiro van Dal¹, Sanne R Martens-de Kemp¹, Antien L Mooyaart¹

¹Department of Pathology, Erasmus University Medical Center, Rotterdam, The Netherlands.

Journal of cutaneous pathology

|September 14, 2024

概括

生殖系SUFU突变与基底细胞神经综合征 (BCNS) 和多种遗传性基底细胞癌 (MHIBCC) 有关. 识别这些不同的患者群体对于管理特定的健康风险至关重要,包括脑瘤.

科学领域:

遗传学遗传学是一个
皮肤病学皮肤病学
在瘤学瘤学.

背景情况:

基底细胞神经综合征 (BCNS) 是一种与早期基底细胞癌 (BCCs) 相关的遗传性疾病.
一个BCNS病例的子集是由生殖线SUFU突变引起的.
生殖系SUFU突变也会导致多种遗传性体囊基细胞癌综合征 (MHIBCC),其特点是中年出现多种基底性皮肤瘤.

研究的目的:

在患有MHIBCC表型的患者中调查生殖线SUFU突变.
确定与遗传性皮肤癌综合征相关的新型SUFU变体.

主要方法:

在三名患有MHIBCC的患者中,检测生殖线SUFU突变的基因检测.
由两个专家进行皮肤活检的皮肤病理学评估.

主要成果:

确定了三种新的致病性SUFU变种,包括一个马赛克变种.
与SUFU突变相关的表型谱范围从MHIBCC到BCNS以及危及生命的脑瘤.
与具有PTCH1突变的BCNS患者相比,生殖系SUFU突变携带者面临的脑瘤风险明显更高.

结论:

生殖系SUFU突变携带者代表了一个独特的患者群体,具有超出BCNS标准的特定健康风险.
根据特定的SUFU突变预测表型目前是不可行的.
早期识别MHIBCC表型对于对SUFU突变携带者及其家属进行适当的医疗保健和遗传咨询至关重要.

关键词:

戈林综合征 (Gorlin综合征) 是一个严重的疾病.SUFU,化的抑制剂.基底细胞神经综合征刺是一种刺,刺是一种刺.多重遗传性基细胞癌综合征遗传性基细胞癌综合征

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