Zanelli Magda, Ricci Stefano, Zizzo Maurizio, Sanguedolce Francesca, De Giorgi Federica, Palicelli Andrea, Martino Giovanni, Ascani Stefano
Pathology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Surgical Oncology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Diagnostics (Basel). 2021 Jan 7;11(1):88. doi: 10.3390/diagnostics11010088.
A 79-year-old woman presented with a long history of peripheral eosinophilia. Previous right hemicolectomy for colonic polyposis was reported. Laboratory tests were notable for mild macrocitic anaemia and eosinophilia. β2 microglobulin and serum tryptase levels were elevated. Serum immunofixation revealed IgA/kappa monoclonal protein. Bence-Jones protein was positive. Bone marrow (BM) biopsy revealed the coexistence of two neoplastic components. Cohesive clusters of bland-looking, spindle-shaped mast cells, representing 20% of marrow cellularity, were close to aggregates of mature plasma cells occupying 40% of marrow cellularity. Molecular analysis on marrow aspirate demonstrated KIT D816V mutation, TET2 mutation, monoallelic deletion of TP53/17p13 and trisomy of ATM/11q23. A bone density study revealed mild osteoporosis. Full skeletal X-rays and magnetic resonance imaging (MRI) of spine and hips showed multiple, small rarefaction areas and an old L1-L2 fracture, both ascribed to osteoporosis. The association of systemic mastocytosis (SM) and multiple myeloma (MM) is very uncommon. The coexistence of SM with MM placed our patient in the SM with associated clonal haematological non-mast-cell lineage disease (SM-AHN) subtype. Midostaurin therapy was started.
一名79岁女性，有长期外周血嗜酸性粒细胞增多病史。据报告曾因结肠息肉病行右半结肠切除术。实验室检查显示轻度大细胞性贫血和嗜酸性粒细胞增多。β2微球蛋白和血清类胰蛋白酶水平升高。血清免疫固定电泳显示IgA/κ单克隆蛋白。本周氏蛋白阳性。骨髓活检显示存在两种肿瘤成分。外观温和的梭形肥大细胞紧密聚集，占骨髓细胞的20%，靠近占骨髓细胞40%的成熟浆细胞聚集区。骨髓穿刺液的分子分析显示存在KIT D816V突变、TET2突变、TP53/17p13单等位基因缺失以及ATM/11q23三体。骨密度研究显示轻度骨质疏松。全脊柱X线及脊柱和髋部磁共振成像（MRI）显示多个小的骨质稀疏区以及一处陈旧性L1-L2骨折，均归因于骨质疏松。系统性肥大细胞增多症（SM）与多发性骨髓瘤（MM）的关联非常罕见。该患者同时存在SM和MM，属于伴有相关克隆性血液非肥大细胞谱系疾病的系统性肥大细胞增多症（SM-AHN）亚型。开始使用米哚妥林治疗。
