PIK3CA mutation analysis in isolated macrodactyly
10.3760/cma.j.issn.0529-5815.2018.07.011
- VernacularTitle:单纯性巨指(趾)症PIK3CA基因突变位点研究
- Author:
Jingheng WU
1
;
Wei TIAN
;
Guanglei TIAN
;
Mengmeng TIAN
;
Shanlin CHEN
;
Wen TIAN
Author Information
1. 100035,北京积水潭医院手外科
- Keywords:
Foot deformities;
Hand deformities;
PIK3CA;
Macrodactyly
- From:
Chinese Journal of Surgery
2018;56(7):538-542
- CountryChina
- Language:Chinese
-
Abstract:
Objective To systematically investigate PIK3CA mutations in isolated macrodactyly.Methods Overgrowth tissues from 12 isolated macrodactyly patients who were treated at Department of Hand Surgery,Beijing Jishuitan Hospital from May to August 2017 were collected during operation.There were 6 male and 6 female patients with average age of 4.5 years.DNA was tested for PIK3CA mutation using a targeted Sanger DNA sequencing method.Samples with negative Sanger result were tested with a next generation DNA sequencing(NGS) panel targeting 47 cancer hotspot genes including PIK3CA.Results By targeted Sanger sequencing,PIK3CA mutations were detected in 9 of the 12 patients,with mutation level ranging from 7％ to 27％.The PIK3CA mutations observed were p.His1047Arg,p.His1047Leu,p.Glu545Lys,and p.Glu542Lys.NGS found p.Glu453Lys in one additional patient,allowing the total positive rate to 10/12.All PIK3CA mutations detected in the study were cancer hotspot mutations.Among all tissue types tested,adipose tissue had the highest mutation detection rate (9/9),followed by nerve(10/12) and skin(10/12).Conclusions A high proportion of isolated macrodactyly patients carry a PIK3CA mutation.Adipose,nerve,and skin are ideal tissue resources for PIK3CA mutation detection.Targeted Sanger sequencing with reflex to NGS represents a cost-effective strategy to test PIK3CA mutations in isolated macrodactyly.
