Familial gastrointestinal stromal tumors with KIT germline mutation in a Chinese family:A case report  

作　　者：Wei Yuan Wen Huang Lei Ren Chen Xu Li-Juan Luan Jie Huang An-Wei Xue Yong Fang Xiao-Dong Gao Kun-Tang Shen Jing-Huan Lv Ying-Yong Hou 

机构地区：[1]Department of Pathology,Zhongshan Hospital,Fudan University,Shanghai 200032,China [2]Department of General Surgery,Zhongshan Hospital,Fudan University,Shanghai 200032,China [3]Department of Pathology,the Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou 215002,Jiangsu Province,China

出　　处：《World Journal of Clinical Cases》2022年第15期4878-4885,共8页世界临床病例杂志

基　　金：Supported by Shanghai Municipal Key 306 Clinical Specialty,No.shslczdzk01302.

摘　　要：BACKGROUND Familial gastrointestinal stromal tumors(GISTs)is a rare autosomal dominant disorder characterized by an array of clinical manifestations.Only 35 kindreds with germline KIT mutations and six with germline PDGFRA mutations have been reported so far.It is often characterized by a series of manifestations,such as multiple lesions and hyperpigmentation.However,the effect of imatinib treatment in these patients is still uncertain.CASE SUMMARY Here,we report two patients(father and daughter)in a Chinese family(for the first time)with germline KIT mutation,and described their pathology,genetics and clinical manifestations.A 25-year-old Chinese woman went to hospital because of abdominal pain,and computed tomography showed multiple tumors in the small intestine.Small pigmented spots appeared on the skin within a few months after birth.Her father also had multiple pigmented spots and a history of multifocal GISTs.Multiple GISTs associated with diffuse interstitial Cajal cells(ICCs)hyperplasia were positive for CD117 and DOG-1.Gene sequencing revealed a germline mutation at codon 560 of exon 11(p.V560G)of KIT gene in these two patients.Imatinib therapy showed the long-lasting disease stability after resection.Remarkably,the hypopigmentation of the skin could also be observed.Luckily germline KIT mutation has not been identified yet in the 3-year-old daughter of the female patient.CONCLUSION Diagnosis of familial GISTs depends on combination of diffuse ICCs hyperplasia,germline KIT/PDGFRA mutation,hyperpigmentation and family history.

关 键 词：Familial gastrointestinal stromal tumor Germline KIT mutation Cutaneous hyperpigmentation Imatinib therapy Case report 

分 类 号：R735[医药卫生—肿瘤]