TY - JOUR
T1 - Genotyping and immunohistochemistry of gastrointestinal stromal tumors
T2 - An update
AU - Rubin, Brian P.
AU - Heinrich, Michael C.
N1 - Publisher Copyright:
© 2015 Elsevier Inc.
PY - 2015/9/1
Y1 - 2015/9/1
N2 - Gastrointestinal stromal tumors (GISTs) were originally thought to harbor either KIT or platelet-derived growth factor receptor A (PDGFRA) mutations only. However, more recent discoveries have highlighted additional, less common oncogenic driver mutations including NF1, BRAF, and succinate dehydrogenase (SDH) mutations. Genotyping GISTs has become more important since not all genotypes respond equally to FDA-approved tyrosine kinase inhibitors. GIST is a paradigm for personalized cancer therapy. Recent studies demonstrate how immunohistochemistry can be used both to diagnose GIST and to screen for specific mutations. DOG1 is particularly useful in the diagnosis of KIT-negative GIST, including tumors with PDGFRA mutations, which can also potentially be identified by immunohistochemistry for PDGFRA. SDHB immunohistochemistry is useful in characterizing GISTs with SDHA-D mutations, whereas SDHA immunohistochemistry is able to identify SDHA mutant GISTs.
AB - Gastrointestinal stromal tumors (GISTs) were originally thought to harbor either KIT or platelet-derived growth factor receptor A (PDGFRA) mutations only. However, more recent discoveries have highlighted additional, less common oncogenic driver mutations including NF1, BRAF, and succinate dehydrogenase (SDH) mutations. Genotyping GISTs has become more important since not all genotypes respond equally to FDA-approved tyrosine kinase inhibitors. GIST is a paradigm for personalized cancer therapy. Recent studies demonstrate how immunohistochemistry can be used both to diagnose GIST and to screen for specific mutations. DOG1 is particularly useful in the diagnosis of KIT-negative GIST, including tumors with PDGFRA mutations, which can also potentially be identified by immunohistochemistry for PDGFRA. SDHB immunohistochemistry is useful in characterizing GISTs with SDHA-D mutations, whereas SDHA immunohistochemistry is able to identify SDHA mutant GISTs.
KW - BRAF
KW - GIST
KW - KIT
KW - NF1
KW - Platelet-derived growth factor receptor A
KW - Succinate Dehydrogenase
UR - http://www.scopus.com/inward/record.url?scp=84940447192&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84940447192&partnerID=8YFLogxK
U2 - 10.1053/j.semdp.2015.02.017
DO - 10.1053/j.semdp.2015.02.017
M3 - Article
C2 - 25766843
AN - SCOPUS:84940447192
SN - 0740-2570
VL - 32
SP - 392
EP - 399
JO - Seminars in Diagnostic Pathology
JF - Seminars in Diagnostic Pathology
IS - 5
ER -