Astle John M, Rose Michal G, Racke Frederick K, Tormey Christopher A, Siddon Alexa J
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA.
Yale University School of Medicine and Cancer Center, VA Connecticut Healthcare System, West Haven, CT.
Lab Med. 2017 Aug 1;48(3):253-257. doi: 10.1093/labmed/lmx026.
Mastocytosis is a clonal neoplasm with the potential to affect various organs within the body. It can range in clinical severity from benign to extremely aggressive. Mastocytosis can be separated into cutaneous, systemic, and leukemic forms, as well as mast-cell sarcoma and extracutaneous mastocytoma. It is most often an acquired condition but can be inherited; the most commonly identified genetic aberrations leading to mastocytosis are activating mutations involving codon 816 of the KIT gene. Herein, we present the case of a 30-year-old Caucasian man with systemic mastocytosis discovered to have a p.Arg634Trp mutation involving KIT. To our knowledge, this mutation has previously only been identified in children with familial urticarial pigmentosa. Ours is the the first case report in the literature of an adult with systemic mastocytosis likely due to a p.Arg634Trp KIT mutation.
肥大细胞增多症是一种克隆性肿瘤，有可能影响体内多个器官。其临床严重程度可从良性到极具侵袭性不等。肥大细胞增多症可分为皮肤型、系统型和白血病型，以及肥大细胞肉瘤和皮肤外肥大细胞瘤。它最常见的是后天性疾病，但也可能是遗传性的；导致肥大细胞增多症最常发现的基因畸变是涉及KIT基因第816密码子的激活突变。在此，我们报告一例30岁的白种男性系统性肥大细胞增多症患者，发现其存在涉及KIT的p.Arg634Trp突变。据我们所知，这种突变此前仅在患有家族性色素性荨麻疹的儿童中被发现。我们的病例是文献中首例可能由p.Arg634Trp KIT突变导致的成年系统性肥大细胞增多症病例报告。
