Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Hoffmann, KM; Moser, A; Lohse, P; Winkler, A; Binder, B; Sovinz, P; Lackner, H; Schwinger, W; Benesch, M; Urban, C.
Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation.
Blood. 2008; 112(5): 1655-1657.
Doi: 10.1182/blood-2008-03-147785
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- Führende Autor*innen der Med Uni Graz
- Hoffmann Karl Martin
- Co-Autor*innen der Med Uni Graz
- Benesch Martin
- Binder Barbara
- Lackner Herwig
- Nebl Andrea Maria
- Ritter-Sovinz Petra
- Schwinger Wolfgang
- Urban Ernst-Christian
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Amino Acid Substitution -
- Antineoplastic Agents - therapeutic use
- Child, Preschool -
- Germ-Line Mutation -
- Humans -
- Infant -
- Male -
- Mastocytosis, Cutaneous - drug therapy Mastocytosis, Cutaneous - enzymology Mastocytosis, Cutaneous - genetics Mastocytosis, Cutaneous - pathology
- Piperazines - therapeutic use
- Proto-Oncogene Proteins c-kit - genetics
- Pyrimidines - therapeutic use
- Sequence Deletion -