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

来源：

HISTOPATHOLOGY | 2014年 / 65卷 / 05期

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

页码：712 / 717

页数：6

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