PIK3CA 相关过度生长伴不常见表型：病例报告。
PIK3CA-related overgrowth with an uncommon phenotype: case report.
机构信息
Dermatology Unit, Bambino Gesù Children's Hospital-IRCCS, P.zza St. Onofrio 4, 00165, Rome, Italy.
VASCERN VASCA and ERN-Skin European Reference Centre, Rome, Italy.
出版信息
Ital J Pediatr. 2022 May 12;48(1):71. doi: 10.1186/s13052-022-01268-9.
BACKGROUND
Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined "PIK3CA-related overgrowth spectrum".
CASE PRESENTATION
We report a 22-months-old female presenting an uncommon phenotype associated with a genetic mosaicism in the PIK3CA gene, detected on DNA extracted from blood peripheral and tissue biopsy.
CONCLUSIONS
NGS is the preferred method for molecular diagnosis of PROS on affected skin and overgrown tissues as primary samples. The wide phenotypic variability is based on the distribution of mosaicism, in fact the same mutation can cause different PIK3CA related disorders. Continuous understanding of the clinical spectrum and of molecular basis of PROS and their overlap will lead to improve diagnosis, management and new treatment strategies.
背景
巨脑-毛细血管畸形综合征是一种罕见的多系统畸形综合征，继发于体细胞中 PI3K-AKT-MTOR 通路的激活突变。该病属于一组异质性疾病，现被定义为“PIK3CA 相关过度生长谱”。
病例介绍
我们报告了一例 22 月龄女婴，其临床表现不常见，存在 PIK3CA 基因的遗传嵌合体，该嵌合体是从外周血和组织活检中提取的 DNA 中检测到的。
结论
NGS 是对受累皮肤和过度生长组织进行 PROS 分子诊断的首选方法，这些组织可作为原发性样本。广泛的表型变异性基于嵌合体的分布，事实上，相同的突变可导致不同的 PIK3CA 相关疾病。对 PROS 及其重叠疾病的临床谱和分子基础的持续了解将有助于改善诊断、管理和新的治疗策略。
Zotero 插件