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January 30, 2003Science

PDGFRA Activating Mutations in Gastrointestinal Stromal Tumors

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Authors

MHMichael C. HeinrichUniversity of London CCChristopher L. CorlessNorthwestern University ADAnette DuensingHeidelberg University

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Implication

Genetic analysis demonstrates activating PDGFRA mutations in KIT-negative gastrointestinal stromal tumors, indicating alternative oncogenic pathways in tumor progression.

Key Points

To identify alternative oncogenic kinase mutations in gastrointestinal stromal tumors that do not harbor activating KIT mutations.
Screened gastrointestinal stromal tumor specimens without KIT mutations (N=40) for intragenic mutations in the related receptor tyrosine kinase PDGFRA.
Compared downstream signaling pathway intermediates and cytogenetic alterations between KIT-mutant and PDGFRA-mutant tumors.
Intragenic activating mutations in PDGFRA were identified in approximately 35% (14 of 40) of GISTs lacking KIT mutations.
Tumors harboring PDGFRA mutations were biochemically and cytogenetically indistinguishable from KIT-mutant tumors regarding downstream signaling activation and progression markers, confirming mutually exclusive oncogenic drivers.

Cite This Study

Heinrich et al. (2003) studied this question.

synapsesocial.com/papers/69dd6f129a26440201100e7a https://doi.org/10.1126/science.1079666

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Implication

Genetic analysis demonstrates activating PDGFRA mutations in KIT-negative gastrointestinal stromal tumors, indicating alternative oncogenic pathways in tumor progression.

PDGFRA Activating Mutations in Gastrointestinal Stromal Tumors

Discussion

Member takes

Implication

Key Points

Cite This Study

PDGFRA Activating Mutations in Gastrointestinal Stromal Tumors

Discussion

Member takes

Implication

Key Points

Cite This Study

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