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, KIT Exon 11 Mutation, KIT Deletion, KIT Exon 11 Deletion, and CDKN2A Loss are the most common alterations in gastrointestinal stromal tumor [2].

Top Alterations in Gastrointestinal Stromal Tumor

Significant Genes in Gastrointestinal Stromal Tumor

ABL1 +

ARID1A +

ATM +

ATR +

ATRX +

BARD1 +

BRAF +

BRCA1 +

BRCA2 +

BRIP1 +

C11ORF30 +

CCNE1 +

CDK12 +

CHEK1 +

CHEK2 +

DDR2 +

EGFR +

EPHA2 +

ERBB2 +

ERBB4 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FBXW7 +

FGFR1 +

FGFR2 +

FH +

FLT1 +

FLT4 +

FRK +

HDAC1 +

HDAC2 +

IDH1 +

IDH2 +

KDR +

KIT +

KRAS +

MAPK11 +

MCPH1 +

MDM2 +

MDM4 +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MUTYH +

MYC +

NBN +

NF1 +

NPM1 +

PALB2 +

PARP1 +

PARP2 +

PDGFRA +

PDGFRB +

PMS1 +

PMS2 +

POLE +

PPP2R1A +

PPP2R2A +

PTEN +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

RAF1 +

RET +

SDHA +

SDHAF2 +

SDHB +

SDHC +

SDHD +

SLX4 +

SMARCB1 +

STAG2 +

STK11 +

TEK +

TP53 +

TRNAK2 +

VEGFA +

VEGFB +

VEGFC +

XRCC1 +

Disease Details

Synonyms
GIST, Unknown primary GIST, Gastrointestinal Stromal Neoplasm
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 6. 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.