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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 disease.Cutaneous mastocytosis is managed symptomatically,but systemic mastocytosis is treated with targeted therapy against the mutated receptor tyrosine kinase c-KIT,the pathogenic driver of mastocytosis.However,there are no guidelines for the treatment of cutaneous mastocytosis refractory to symptomatic management.We herein report a method to select genetically informed therapy for symptomatic and recalcitrant cutaneous mastocytosis.Case presentation:We performed a mutational analysis of dermal mast cells after enrichment by laser capture in a 23-year-old woman with recalcitrant cutaneous mastocytosis.The analysis revealed a aspartic acid to valine substitution at codon 816(D816V)mutation in the protein c-KIT.Based on these results,we initiated treatment with the multi-kinase/KIT inhibitor midostaurin,a treatment effective against the D816V c-KIT mutation.After 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 symptoms.Discussion:The treatment of mastocytosis relies heavily on whether the disease is limited to the skin or systemic.However,there are no guidelines for cutaneous mastocytosis that does not respond to symptomatic management.In 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 therapy.Conclusion: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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Gelfoam embolization for distal, medium vessel injury during mechanical thrombectomy in acute stroke: A case report

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World Journal of Clinical Cases 2021年第20期9卷 5668-5674页

作者： Ji Yun Kang Kyung Sik Yi Sang-Hoon cha Chi-Hoon Choi Yook Kim jisun Lee Bum Sang Cho Department of Radiology Chungbuk National University HospitalCheongju 28644South Korea College of Medicine and Medical Research Institute Chungbuk National UniversityCheongju 28644South Korea

BACKGROUND Arterial perforation has inevitably increased as endovascular treatments have become more common for intracranial large vessel occlusions,and even distal,medium vessel occlusions.A distal,medium vessel has a tortuous course and thinner wall compared to large arteries,making it more susceptible to damage.Here,we review the treatment strategies for arterial perforation during mechanical thrombectomy,and we report the case of a patient treated with gelfoam embolization.CASE SUMMARY A 63-year-old woman presented to the emergency department with sudden neurologic symptoms of right hemiparesis and global aphasia.The initial National Institutes of Health Stroke Scale score was 15.Computed tomography(CT)and CT angiography revealed hyperacute infarction and emergent arterial occlusion of the left middle cerebral artery M2-3 portion.During endovascular mechanical thrombectomy,arterial rupture occurred.The patient’s vital signs were stable,but delayed angiography showed persistent active bleeding.Therefore,selective embolization of the injured artery was performed using gelfoam.Subsequent left vertebral and internal carotid angiography was performed to confirm hemostasis.A localized subarachnoid hemorrhage(SAH)was confirmed on a follow-up CT scan.A repeated CT scan after 12 d showed resolution of the SAH,and rebleeding did not occur.CONCLUSION Rescue embolization with gelfoam could be considered an additional option in distal,medium vessel perforation.

关键词： Gelfoam Embolization Acute ischemic stroke Mechanical thrombectomy Arterial perforation Case report

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