Mutant KIT as imatinib-sensitive target in metastatic sinonasal carcinoma (H021)

Study ID Alternative Stable ID Type
EGAS00001001845 Other

Study Description

Sinonasal carcinomas (SNCs) comprise various rare tumor types that are characterized by marked histologic diversity and largely unknown molecular profiles, yet share an overall poor prognosis owing to an aggressive clinical course and frequent late-stage diagnosis. The lack of effective systemic therapies for locally advanced or metastatic SNC poses a major challenge to therapeutic decision making for individual patients. Here, we used whole-exome and transcriptome sequencing to identify a KIT exon 11 mutation (c.1733_1735del, p.578_579del) as actionable target in a patient with metastatic SNC whose tumor, despite all diagnostic efforts, could not be assigned to any known SNC category and was refractory to multimodal therapy. Molecularly guided treatment with imatinib resulted in a dramatic and durable response with remission of nearly all tumor manifestations, indicating a dominant driver function of mutant KIT in this tumor. This observation highlights the potential of unbiased genomic profiling for uncovering the vulnerabilities of individual malignancies, particularly in rare ... (Show More)

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
Exome Seq for EGAS00001001845
Illumina HiSeq 2500 2
Transcriptome from EGAS00001001845
Illumina HiSeq 2500 1

Who archives the data?

There are no publications available