Associated Genetic Biomarkers

Overview

NCI Definition: A stromal tumor most commonly seen in the gastrointestinal tract. Rare cases of solitary masses in the omentum or the mesentery have also been reported (extragastrointestinal gastrointestinal stromal tumor). It is a tumor that differentiates along the lines of interstitial cells of Cajal. Most cases contain KIT- or PDGFRA-activating mutations. Until recently, surgery has been the only effective therapy for this tumor. However, many patients still experience recurrence. Conventional chemotherapy and radiation therapy have been of limited value. A KIT tyrosine kinase inhibitor, imatinib mesylate (also known as STI-571 or Gleevec), is now effective in the treatment of relapsed and unresectable cases. [1]

Gastrointestinal stromal tumors most frequently harbor alterations in KIT, CDKN2A, CDKN2B, PDGFRA, and RB1 [2].

Most Commonly Altered Genes in Gastrointestinal Stromal Tumor

KIT Mutation (somatic), KIT Mutation, KIT Deletion, CDKN2A Loss, and CDKN2B Loss are the most common alterations in gastrointestinal stromal tumor [2].

Top Alterations in Gastrointestinal Stromal Tumor

Significant Genes in Gastrointestinal Stromal Tumor

ABL1 +

BRAF +

DDR2 +

EGFR +

EPHA2 +

ERBB2 +

ERBB4 +

FGFR1 +

FGFR2 +

FH +

FLT1 +

FLT4 +

FRK +

IDH1 +

IDH2 +

KDR +

KIT +

KRAS +

MAPK11 +

MYC +

NF1 +

PDGFRA +

PDGFRB +

RAF1 +

RET +

SDHA +

SDHB +

SDHC +

SDHD +

TEK +

TRNAK2 +

VEGFA +

VEGFB +

VEGFC +

Disease Details

Synonyms
Gastrointestinal Stromal Neoplasm, GIST
Parent(s)
Stromal Neoplasm
OncoTree Name
Gastrointestinal Stromal Tumor
OncoTree Code
GIST

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.