What are the NCCN diagnostic guidelines for GI stromal tumors (GIST)?

Updated: Dec 03, 2020
  • Author: Steven C Katz, MD, FACS; Chief Editor: Edwin Choy, MD, PhD  more...
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The NCCN guidelines for gastrointestinal stromal tumors (GISTs) recommend evaluation and management, prior to initiation of therapy, by a multidisciplinary team with expertise and experience in sarcoma. Abdominal/pelvic CT scan with contrast, with or without MRI, is also indicated and chest imaging should be considered. Very small GISTs (< 2 cm) may be evaluated with endoscopic ultrasound-guided fine-needle aspiration; for GISTs 2 cm or larger, endoscopy with or without ultrasound may also be indicated in select patients. [1]

Genetic testing for KIT and PDGFRA is a strong recommendation, and in the absence of KIT or PDGFRA mutations, testing for loss of SDHB protein expression by immunohistochemistry should be considered.  If SDHB expression is lost, then genetic counseling and germline mutation testing in SDH genes should be considered. In patients with advanced GISTs, identification of specific KIT and PDGFRA mutations helps predict responsiveness to imatinib and the possible benefit of a higher imatinib dose. [1]

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