RASopathies个体的癌症发病率和监测策略

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY
Gina Ney, Andrea Gross, Alicia Livinski, Christian P. Kratz, Douglas R. Stewart
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引用次数: 3

摘要

RASopathies是一组具有分子和临床重叠的临床综合征。从遗传学上讲,这些综合征是由RAS/MAPK通路基因的种系致病性变异定义的,导致该通路激活。在临床上,它们共同的分子特征导致相似的表型,包括心脏异常、神经疾病,尤其是癌症风险升高。RASopathies患者的癌症风险是通过回顾性评价和队列研究来估计的。例如,在科斯特洛综合症中,癌症发病率明显高于一般人群,主要是由于实体瘤。在某些形式的努南综合征中,患癌症的风险也高于一般人群,并且在血液恶性肿瘤中更为丰富。因此,已经制定了癌症监测指南,以监测某些rasopathy患者中此类癌症的发生。这些检查包括腹部超声检查和科斯特洛综合征患者的尿液分析,而努南综合征患者建议进行全血细胞计数和脾检查。改进的癌症风险评估和改进的监测建议将改善对RASopathies患者的护理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cancer incidence and surveillance strategies in individuals with RASopathies

RASopathies are a set of clinical syndromes that have molecular and clinical overlap. Genetically, these syndromes are defined by germline pathogenic variants in RAS/MAPK pathway genes resulting in activation of this pathway. Clinically, their common molecular signature leads to comparable phenotypes, including cardiac anomalies, neurologic disorders and notably, elevated cancer risk. Cancer risk in individuals with RASopathies has been estimated from retrospective reviews and cohort studies. For example, in Costello syndrome, cancer incidence is significantly elevated over the general population, largely due to solid tumors. In some forms of Noonan syndrome, cancer risk is also elevated over the general population and is enriched for hematologic malignancies. Thus, cancer surveillance guidelines have been developed to monitor for the occurrence of such cancers in individuals with some RASopathies. These include abdominal ultrasound and urinalyses for individuals with Costello syndrome, while complete blood counts and splenic examination are recommended in Noonan syndrome. Improved cancer risk estimates and refinement of surveillance recommendations will improve the care of individuals with RASopathies.

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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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