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Recalcitrant Cutaneous Mastocytosis Treated With Genetically Informed Targeted Therapy:A Case Report

International Journal of Dermatology and Venereology 2023年第2期6卷 107-109页

作者： Laura Gleason Volkan Tekmen Alexa Cohen Safiyyah Bhatti Burcu Beksac Jisun Cha pierluigi porcu Neda Nikbakht Department of Dermatology and Cutaneous Biology Thomas Jefferson UniversityPhiladelphiaPA 19107USA Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplant Department of Medical OncologySidney Kimmel Cancer CenterThomas Jefferson UniversityPhiladelphiaPA 19107USA Department of Dermatopathology Schweiger Dermatology GroupNew YorkNY 10006USA

Introduction:Mastocytosis,a clonal proliferation of mast cells commonly involving the skin and bone marrow,has a varied clinical presentation ranging from cutaneous lesions to systemic *** mastocytosis is managed symptomatically,but systemic mastocytosis is treated with targeted therapy against the mutated receptor tyrosine kinase c-KIT,the pathogenic driver of ***,there are no guidelines for the treatment of cutaneous mastocytosis refractory to symptomatic *** herein report a method to select genetically informed therapy for symptomatic and recalcitrant cutaneous *** presentation:We performed a mutational analysis of dermal mast cells after enrichment by laser capture in a 23-year-old woman with recalcitrant cutaneous *** analysis revealed a aspartic acid to valine substitution at codon 816(D816V)mutation in the protein *** on these results,we initiated treatment with the multi-kinase/KIT inhibitor midostaurin,a treatment effective against the D816V c-KIT *** 3 months of treatment,the patient exhibited a reduction in the number and size of cutaneous lesions and reported resolution of pruritus and decreased severity of other mast cell-related ***:The treatment of mastocytosis relies heavily on whether the disease is limited to the skin or ***,there are no guidelines for cutaneous mastocytosis that does not respond to symptomatic *** the present report describing a patient with recalcitrant cutaneous mastocytosis,we describe a strategy in which skin mutational analysis is used to guide the selection of targeted ***:Performing mast cell mutational analyses in the skin provides a means to select targeted therapy for symptomatic and refractory cutaneous mastocytosis.

关键词： mastocytosis c-KIT molecular genetics targeted therapy midostaurin

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