What question did this study set out to answer?

Identify novel pathogenic mutations in young adult patients with sporadic KIT/PDGFRA wild-type gastrointestinal stromal tumors.

April 19, 2011JNCI Journal of the National Cancer Institute

SDHA Loss-of-Function Mutations in KIT-PDGFRA Wild-Type Gastrointestinal Stromal Tumors Identified by Massively Parallel Sequencing

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Authors

MPMaria A. PantaleoUniversity of Pisa AAAnnalisa AstolfiAzienda USL di Bologna VIValentina IndioAzienda USL di Bologna

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Implication

Transcriptome sequencing uncovers SDHA loss-of-function mutations in young adults with KIT-PDGFRA wild-type gastrointestinal stromal tumors, highlighting a novel oncogenic driver.

Key Points

Identify novel pathogenic mutations in young adult patients with sporadic KIT/PDGFRA wild-type gastrointestinal stromal tumors.
Sequenced the tumor transcriptomes of two young adult patients (N=2) with sporadic KIT/PDGFRA wild-type gastrointestinal stromal tumors using massively parallel sequencing.
Screened germline DNA extracted from peripheral blood and performed computational and protein structure analyses to predict the functional consequences of candidate mutations.
Identified disease-related SDHA mutations in both patients: one harbored a homozygous nonsense mutation (p.Ser384X), and the other carried compound heterozygous variants (p.Arg31X nonsense and p.Arg589Trp missense).
Confirmed that the heterozygous nonsense mutations were present in germline DNA, with structural modeling demonstrating that all three identified mutations cause complete functional inactivation of the SDHA protein.

Cite This Study

Pantaleo et al. (2011) studied this question.

synapsesocial.com/papers/6aadfbe0b47555f494a3544a https://doi.org/10.1093/jnci/djr130

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Implication

Transcriptome sequencing uncovers SDHA loss-of-function mutations in young adults with KIT-PDGFRA wild-type gastrointestinal stromal tumors, highlighting a novel oncogenic driver.

SDHA Loss-of-Function Mutations in KIT-PDGFRA Wild-Type Gastrointestinal Stromal Tumors Identified by Massively Parallel Sequencing

Discussion

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Implication

Key Points

Cite This Study

SDHA Loss-of-Function Mutations in KIT-PDGFRA Wild-Type Gastrointestinal Stromal Tumors Identified by Massively Parallel Sequencing

Discussion

Member takes

Implication

Key Points

Cite This Study

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