Successful treatment of KIT D816V-positive, imatinib-resistant systemic mastocytosis with interferon-alpha

Chikamasa Yoshida; Makoto Takeuchi; Junjiro Tsuchiyama; Yoshito Sadahira

doi:10.2169/internalmedicine.48.2294

Successful treatment of KIT D816V-positive, imatinib-resistant systemic mastocytosis with interferon-alpha

Intern Med. 2009;48(22):1973-8. doi: 10.2169/internalmedicine.48.2294. Epub 2009 Nov 16.

Authors

Chikamasa Yoshida¹, Makoto Takeuchi, Junjiro Tsuchiyama, Yoshito Sadahira

Affiliation

¹ Division of Hematology, Department of Internal Medicine, National Hospital Organization Minami-Okayama Medical Center, Okayama. yoshidac@s-okayama.hosp.go.jp

PMID: 19915299
DOI: 10.2169/internalmedicine.48.2294

Abstract

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.

Publication types

Case Reports

MeSH terms

Benzamides
Bone Marrow / pathology
Drug Resistance
Female
Humans
Imatinib Mesylate
Interferon-alpha / therapeutic use*
Mast Cells / pathology
Mastocytosis, Systemic / complications
Mastocytosis, Systemic / drug therapy*
Mastocytosis, Systemic / genetics
Mastocytosis, Systemic / pathology
Middle Aged
Myelodysplastic Syndromes / complications
Piperazines / therapeutic use*
Point Mutation*
Proto-Oncogene Proteins c-kit / genetics*
Pyrimidines / therapeutic use*

Substances

Benzamides
Interferon-alpha
Piperazines
Pyrimidines
Imatinib Mesylate
Proto-Oncogene Proteins c-kit