Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report

被引:7
|
作者
Jove, Maria [1 ]
Mora, Jaume [2 ]
Sanjuan, Xavier [3 ]
Rodriguez, Eva [2 ]
Robledo, Mercedes [4 ]
Farran, Leandre [5 ]
del Muro, Xavier Garcia [1 ]
机构
[1] Inst Catala Oncol, Dept Med Oncol, Barcelona, Spain
[2] HSJD, Dept Pediat Oncol, Barcelona, Spain
[3] Hosp Univ Bellvitge, Dept Pathol, Barcelona, Spain
[4] Spanish Natl Canc Ctr CNIO, Human Canc Genet Programme, Grp Leader, Hereditary Endocrine Canc, Madrid, Spain
[5] Hosp Univ Bellvitge, Dept Surg, Barcelona, Spain
关键词
carney-stratakis syndrome; gastrointestinal stromal tumour; succinate dehydrogenase gene; GERMLINE MUTATIONS; MOLECULAR-GENETICS; PDGFRA MUTATIONS; TRIAD; GISTS; PARAGANGLIOMAS; EXPRESSION; SUBUNIT;
D O I
10.1111/his.12506
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:712 / 717
页数:6
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