| Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation. | |
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MedLine Citation:
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PMID: 18183595 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Agnieszka Woźniak; Piotr Rutkowski; Raf Sciot; Włodzimierz Ruka; Wanda Michej; Maria Debiec-Rychter |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: International journal of cancer. Journal international du cancer Volume: 122 ISSN: 1097-0215 ISO Abbreviation: Int. J. Cancer Publication Date: 2008 May |
Date Detail:
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Created Date: 2008-03-03 Completed Date: 2008-03-18 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0042124 Medline TA: Int J Cancer Country: United States |
Other Details:
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Languages: eng Pagination: 2160-4 Citation Subset: IM |
Copyright Information:
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(c) 2008 Wiley-Liss, Inc. |
Affiliation:
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Department of General Medical Oncology, Catholic University of Leuven, Leuven, Belgium. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Antineoplastic Agents
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therapeutic use Chromosomes, Human, Pair 4 Exons Gastrointestinal Stromal Tumors / drug therapy, genetics*, pathology, surgery Germ-Line Mutation* Haplotypes Humans Male Microsatellite Repeats Middle Aged Pedigree Piperazines / therapeutic use Polymorphism, Genetic Proto-Oncogene Proteins c-kit / genetics* Pyrimidines / therapeutic use Rectal Neoplasms / drug therapy, genetics*, pathology, surgery Tomography, X-Ray Computed Treatment Outcome |
| Chemical | |
Reg. No./Substance:
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0/Antineoplastic Agents; 0/Piperazines; 0/Pyrimidines; 152459-95-5/imatinib; EC 2.7.10.1/Proto-Oncogene Proteins c-kit |
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