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A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement
Clinical Genetics ( IF 3.5 ) Pub Date : 2021-07-08 , DOI: 10.1111/cge.14027
Sofia Douzgou 1, 2, 3 , Myfanwy Rawson 2 , Eulalia Baselga 4 , Moise Danielpour 5, 6 , Laurence Faivre 7 , Alon Kashanian 6 , Kim M Keppler-Noreuil 8 , Paul Kuentz 9 , Grazia M S Mancini 10 , Marie-Cecile Maniere 11 , Victor Martinez-Glez 12, 13, 14 , Victoria E Parker 15 , Robert K Semple 16 , Siddharth Srivastava 17 , Pierre Vabres 7 , Marie-Claire Y De Wit 18 , John M Graham 19 , Jill Clayton-Smith 2, 3 , Ghayda M Mirzaa 20 , Leslie G Biesecker 21
Affiliation  

Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Spectrum disorders (PROS). Deep sequencing technologies have facilitated detection of low-level mosaic, often necessitating testing of tissues other than blood. Since clinical management practices vary considerably among healthcare professionals and services across different countries, a consensus on management guidelines is needed. Clinical heterogeneity within this spectrum leads to challenges in establishing management recommendations, which must be based on patient-specific considerations. Moreover, as most of these conditions are rare, affected families may lack access to the medical expertise that is needed to help address the multi-system and often complex medical issues seen with PROS. In March 2019, macrocephaly-capillary malformation (M-CM) patient organizations hosted an expert meeting in Manchester, United Kingdom, to help address these challenges with regards to M-CM syndrome. We have expanded the scope of this project to cover PROS and developed this consensus statement on the preferred approach for managing affected individuals based on our current knowledge.

中文翻译:

PIK3CA 相关疾病患者的护理标准:国际专家共识声明

PIK3CA中的促生长变异会导致一系列发育障碍,具体取决于突变的发育时间和所涉及的组织。这些表型异质的实体被归类为PIK3CA-相关的过度生长谱系障碍 (PROS)。深度测序技术促进了低水平嵌合体的检测,通常需要对血液以外的组织进行检测。由于不同国家的医疗保健专业人员和服务的临床管理实践差异很大,因此需要就管理指南达成共识。该范围内的临床异质性给建立管理建议带来了挑战,这些建议必须基于患者的具体考虑。此外,由于大多数这些情况都很罕见,因此受影响的家庭可能无法获得帮助解决 PR​​OS 所见的多系统且通常复杂的医疗问题所需的医疗专业知识。2019年3月,巨头畸形-毛细血管畸形(M-CM)患者组织在英国曼彻斯特举办了一次专家会议,帮助解决这些与 M-CM 综合征有关的挑战。我们已将此项目的范围扩大到涵盖 PROS,并根据我们目前的知识制定了关于管理受影响个人的首选方法的共识声明。
更新日期:2021-07-08
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