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 Blood, 1 September 2008, Vol. 112, No. 5, pp. 1655-1657.
Prepublished online as a Blood First Edition Paper on June 20, 2008; DOI 10.1182/blood-2008-03-147785.

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CLINICAL TRIALS AND OBSERVATIONS

Brief Report

Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation

Karl M. Hoffmann1, Andrea Moser1, Peter Lohse2, Andreas Winkler1, Barbara Binder3, Petra Sovinz1, Herwig Lackner1, Wolfgang Schwinger1, Martin Benesch1, and Christian Urban1

1 Division of Pediatric Hematology/Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria; 2 Department of Clinical Chemistry-Grosshadern, University of Munich, Munich, Germany; and 3 Department of Dermatology and Venerology, Medical University Graz, Graz, Austria

Cutaneous mastocytosis (CM) in children is a usually benign skin disorder caused by mast cell proliferation. Progressive disease leading to systemic involvement and fatal outcomes has been described. C-kit receptor mutations have been identified as causative for CM, some of which potentially respond to imatinib treatment as described for patients with systemic mastocytosis. We report successful therapy of progressive CM with imatinib in a 23-month-old boy. KIT gene analysis revealed not only a somatic deletion of codon 419 in exon 8 (c.1255_1257delGAC) which responds to imatinib therapy, but also a novel germ line p. Ser840Asn substitution encoded by exon 18 in the c-kit kinase domain. Family history suggests this exchange does not affect receptor function or cause disease. Imatinib therapy was well tolerated, stopped symptoms and disease progression, and appeared to shorten the course of the disease. Imatinib could possibly represent a novel therapeutic option in patients with progressive CM.


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