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Ref Type Journal Article
PMID (18183595)
Authors Woźniak A, Rutkowski P, Sciot R, Ruka W, Michej W, Debiec-Rychter M
Title Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation.
Journal Vol Issue Date Pages Journal Short Title
International journal of cancer 122 9 2008 May 01 2160-4 Int J Cancer
URL
Abstract Text Somatic, activating mutations of KIT or PDGFRA are early oncogenic events in the majority of sporadic gastrointestinal stromal tumors (GISTs). Also a number of families with GISTs have been described in recent years. The familial GIST syndrome is a rare autosomal dominant disorder with high penetrance and diverse manifestations associated mostly with germline KIT mutations. In this report, we show a novel germline mutation in the juxtamembrane domain of KIT, identified in 2 brothers, both presenting with recurrent, high risk/malignant rectal GISTs. The KIT p.Q575_P577delinsH mutation was found in tumor samples as well as in peripheral blood leukocytes from both patients, proving that the mutation was indeed inherited. Besides rectal GISTs, no other features characteristic for the familial GIST syndrome was observed in either brother or any of their first-degree relatives. The patients were treated with imatinib, achieving either long-term partial response or stable disease. This observation confirms that imatinib can be successfully used in familial GISTs, as it is used in the sporadic advanced tumors, and that tumors bearing a KIT p.Q575_P577delinsH mutation are responsive to imatinib treatment.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT Q575_P577delinsH gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical study, Gleevec (imatinib) treatment resulted in partial responses in 2 patients with metastatic rectal gastrointestinal stromal tumor harboring germline KIT Q575_P577delinsH, with treatment ongoing for at least 58 months in one patient and disease stabilization ongoing for at least 12 months in the second patient (PMID: 18183595). 18183595