Successful Treatment of KIT D816V-positive, Imatinib-resistant Systemic Mastocytosis with Interferon-alpha

We describe a case of systemic mastocytosis associated with myelodysplastic syndrome. The bone marrow showed multifocal clusters of mast cells and myeloid dysplasia. Sequencing of the KIT DNA revealed a point mutation at codon 816 including a substitution of valine for aspartic acid (D816V). The pat...

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Bibliographic Details
Published in:	Internal Medicine Vol. 48; no. 22; pp. 1973 - 1978
Main Authors:	Yoshida, Chikamasa, Takeuchi, Makoto, Tsuchiyama, Junjiro, Sadahira, Yoshito
Format:	Journal Article
Language:	English
Published:	Japan The Japanese Society of Internal Medicine 01-01-2009
Subjects:	Benzamides Bone Marrow - pathology Drug Resistance Female Humans imatinib Imatinib Mesylate interferon-alpha Interferon-alpha - therapeutic use Mast Cells - pathology mastocytosis Mastocytosis, Systemic - complications Mastocytosis, Systemic - drug therapy Mastocytosis, Systemic - genetics Mastocytosis, Systemic - pathology Middle Aged Myelodysplastic Syndromes - complications myeloproliferative neoplasm Piperazines - therapeutic use Point Mutation Proto-Oncogene Proteins c-kit - genetics Pyrimidines - therapeutic use
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Summary:	We describe a case of systemic mastocytosis associated with myelodysplastic syndrome. The bone marrow showed multifocal clusters of mast cells and myeloid dysplasia. Sequencing of the KIT DNA revealed a point mutation at codon 816 including a substitution of valine for aspartic acid (D816V). The patient's tumor did not respond to imatinib; however, interferon-alpha reduced the bone marrow mast cells and serum total tryptase. The patient remains alive at one year after the diagnosis without disease progression.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 ObjectType-Article-2 ObjectType-Feature-1
ISSN:	0918-2918 1349-7235 1349-7235
DOI:	10.2169/internalmedicine.48.2294