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Familial GI Stromal Tumor With Loss of Heterozygosity and Amplification of Mutant KIT

Familial GI Stromal Tumor With Loss of Heterozygosity and Amplification of Mutant KIT • • VOLUME 3 4 NUMBER 3 J A NU A RY 20, 2016 DIAGNOSIS IN ONCOLOGY JOURNAL OF CLINICAL ONCOLOGY ages of 72 and 46 years, respectively. In total, she reported that 17 FAMILIAL GI STROMAL TUMOR WITH LOSS OF family members had been diagnosed with GIST and/or had skin HETEROZYGOSITY AND AMPLIFICATION OF MUTANT KIT hyperpigmentation and symptoms of dyspepsia from a young age (Fig 2). A computed tomography (CT) scan and upper GI endoscopy with Introduction endoscopic ultrasound were performed to screen for GIST; however, GI stromal tumors (GISTs) are the most common mesenchymal consistent with previous examinations, no cause for her symptoms tumors of the GI tract, with a reported incidence of 11 to 19.6 cases per 1-3 was found. Finally, a positron emission tomography–CT scan was million. In approximately 5% of patients, GIST is associated with performed that, surprisingly, demonstrated focal metabolic activity in one of several familial autosomal dominant syndromes, including the gastric antrum. This finding, in conjunction with the patient’s neurofibromatosis type 1, Carney-Stratakis syndrome, and primary 4-6 concerning family history, prompted an exploratory laparoscopy that familial GIST syndrome (FGS). The two genes causally linked to revealed multiple nodules smaller than 0.5 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Clinical Oncology Wolters Kluwer Health

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Publisher
Wolters Kluwer Health
Copyright
(C) 2016 American Society of Clinical Oncology
ISSN
0732-183X
eISSN
1527-7755
DOI
10.1200/JCO.2013.51.6633
Publisher site
See Article on Publisher Site

Abstract

• • VOLUME 3 4 NUMBER 3 J A NU A RY 20, 2016 DIAGNOSIS IN ONCOLOGY JOURNAL OF CLINICAL ONCOLOGY ages of 72 and 46 years, respectively. In total, she reported that 17 FAMILIAL GI STROMAL TUMOR WITH LOSS OF family members had been diagnosed with GIST and/or had skin HETEROZYGOSITY AND AMPLIFICATION OF MUTANT KIT hyperpigmentation and symptoms of dyspepsia from a young age (Fig 2). A computed tomography (CT) scan and upper GI endoscopy with Introduction endoscopic ultrasound were performed to screen for GIST; however, GI stromal tumors (GISTs) are the most common mesenchymal consistent with previous examinations, no cause for her symptoms tumors of the GI tract, with a reported incidence of 11 to 19.6 cases per 1-3 was found. Finally, a positron emission tomography–CT scan was million. In approximately 5% of patients, GIST is associated with performed that, surprisingly, demonstrated focal metabolic activity in one of several familial autosomal dominant syndromes, including the gastric antrum. This finding, in conjunction with the patient’s neurofibromatosis type 1, Carney-Stratakis syndrome, and primary 4-6 concerning family history, prompted an exploratory laparoscopy that familial GIST syndrome (FGS). The two genes causally linked to revealed multiple nodules smaller than 0.5

Journal

Journal of Clinical OncologyWolters Kluwer Health

Published: Jan 20, 2016

References