A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy.

Full Abstract

KIT mutation has been implicated in sporadic mastocytosis, yet clusters in only a few sites in the molecule. For those malignancies associated with KIT mutation or over-expression, imatinib offers a specific therapeutic option, yet it has no effect on D816V mutation commonly seen in sporadic mastocytosis. The majority of cases of familial mastocytosis seem to lack KIT mutation. We report a kindred with mastocytosis in whom in vitro and in vivo sensitivity to imatinib was demonstrated. Mutation analysis of the KIT coding region in this family identified a novel A>T mutation at nucleotide 1547 [K509I] in exon 9 in both of the affected patients.

Author information

Author/s: Zhang, Ling Yan (LY); Smith, Matthew L (ML); Schultheis, Beate (B); Fitzgibbon, Jude (J); Lister, T Andrew (TA); Melo, Junia V (JV); Cross, Nicholas C P (NC); Cavenagh, Jamie D (JD);

Affiliation: Wessex Regional Genetics Laboratory, Salisbury, UK.

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal: Leukemia research (Leuk Res), published in England. (Language: eng)

Reference: 2006-Apr; vol 30 (issue 4) : pp 373-8

Dates: Created 2006/02/21; Completed 2006/04/25; Revised 2006/11/15;

PMID: 16183119, status: MEDLINE (last retrieval date: 2/18/2009, IMS Date: )

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

External Links for this article
(including full text providers, if available):

Click Electronic Full-text Provider Links to see options for finding the electronic full text links to this article. Note there may be a subscription or fee required for access to the full text. See our FAQ for information on finding FREE full text articles.

This article may also be located in paper journal collections available in many libraries. Use the Journal and Publication Information above to find the full article.

MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Mastocytosis - drug therapy; genetics
Mutation
Piperazines - therapeutic use
Proto-Oncogene Proteins c-kit - genetics
Pyrimidines - therapeutic use
RNA Splicing

Associated Chemicals: Antineoplastic Agents (0) ; DNA Primers (0) ; Piperazines (0) ; Pyrimidines (0) ; imatinib (152459-95-5) ; Proto-Oncogene Proteins c-kit (EC 2.7.1.112)

These are the highest related articles currently in the database: