Secondary Logo

Journal Logo

Institutional members access full text with Ovid®

Gastrointestinal stromal tumors in the setting of multiple tumor syndromes

Burgoyne, Adam M.a; Somaiah, Neetab; Sicklick, Jason K.c

doi: 10.1097/CCO.0000000000000089
SARCOMAS: Edited by Jonathan C. Trent

Purpose of review Knowledge related to gastrointestinal stromal tumor (GIST) in the setting of nonhereditary and hereditary multiple tumor syndromes continues to expand. This review describes associations between sporadic GIST and second malignancies, as well as new contributions to our knowledge about hereditary GIST multiple tumor syndromes.

Recent findings Sporadic GIST patients have increased risk of developing synchronous/metachronous cancers, including nonhematologic and hematologic malignancies. Data suggest these associations are nonrandom, more prevalent in men and increase with age. New adrenal tumors have also been associated with nonhereditary Carney's triad. Meanwhile, understanding of the molecular basis of heritable GIST syndromes has improved. Several new familial GIST kindreds have been reported, including those with germline KIT and PDGFRα mutations. Knowledge about succinate dehydrogenase (SDH) deficiency and mutations in hereditary GIST syndromes has expanded. It is now known that neurofibromatosis-1-associated GISTs are SDHB-positive, whereas Carney–Stratakis syndrome-associated GISTs are SDHB-deficient with underlying germline mutations in SDH subunits A–D.

Summary Recognition and early diagnosis of GIST syndromes allows for improved comprehensive medical care. With additional understanding of the molecular pathogenesis of GIST multiple tumor syndromes, we can refine our screening programs and management of these patients and their families.

aDivision of Hematology–Oncology and Department of Medicine, Moores UCSD Cancer Center, University of California, San Diego, La Jolla, California

bDivision of Medical Oncology and Department of Internal Medicine, MD Andersen Cancer Center, University of Texas, Houston, Texas

cDivision of Surgical Oncology and Department of Surgery, Moores UCSD Cancer Center, University of California, San Diego, La Jolla, California, USA

Correspondence to Jason K. Sicklick, MD, Assistant Professor of Surgery, Division of Surgical Oncology, Moores UCSD Cancer Center, University of California, San Diego, 3855 Health Sciences Drive, Mail Code 0987, La Jolla, CA 92093-0987, USA. Tel: +1 858 822 3967; 858 822 6173; fax: +1 858 228 5153; e-mail:

© 2014 Lippincott Williams & Wilkins, Inc.