Document Detail


Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation.
MedLine Citation:
PMID:  18183595     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Agnieszka Woźniak; Piotr Rutkowski; Raf Sciot; Włodzimierz Ruka; Wanda Michej; Maria Debiec-Rychter
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
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:
Created Date:  2008-03-03     Completed Date:  2008-03-18     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0042124     Medline TA:  Int J Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2160-4     Citation Subset:  IM    
Copyright Information:
(c) 2008 Wiley-Liss, Inc.
Affiliation:
Department of General Medical Oncology, Catholic University of Leuven, Leuven, Belgium.
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MeSH Terms
Descriptor/Qualifier:
Antineoplastic Agents / 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:
0/Antineoplastic Agents; 0/Piperazines; 0/Pyrimidines; 152459-95-5/imatinib; EC 2.7.10.1/Proto-Oncogene Proteins c-kit

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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