Soare Delia, Soare Dan, Petruțescu Brîndușa, Firescu Oana, Leru Poliana, Pop Corina Silvia, Negreanu Lucian, Voiculescu Vlad, Bumbea Horia
Bone Marrow Transplantation Unit, University Emergency Hospital Bucharest, Bucharest, Romania.
Scientific Research Methodology and Hematology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
J Med Life. 2025 Jul;18(7):640-647. doi: 10.25122/jml-2025-0103.
Systemic mastocytosis (SM) is a rare clonal mast cell disease characterized by heterogeneous clinical presentations and molecular features that vary across different regions; however, data from Central-Eastern Europe remain limited. This study aimed to describe the demographic, clinical, laboratory, and molecular characteristics of Romanian adults diagnosed with SM and followed at the national reference center for mast cell disorders in Bucharest, while also exploring real-world management patterns and outcomes. We conducted a retrospective observational study including 162 adult patients evaluated between January 2006 and March 2025 who met the 2022 World Health Organization criteria for SM. Data extracted from electronic medical records included WHO subtype, mutation status, serum tryptase levels, organ involvement, treatment history, and survival outcomes. A descriptive statistical approach was used, with continuous variables expressed as medians and interquartile ranges, and categorical variables as counts and percentages. A subset of eight patients underwent bone marrow flow cytometry immunophenotyping to assess the diagnostic contribution of CD2 and CD25. Among the entire cohort, indolent SM was the most frequent form (53.1%), followed by cutaneous mastocytosis (17.3%), smoldering SM (5.6%), aggressive SM (3.7%), and SM with associated hematologic neoplasm (8%). The D816V mutation was detected in 43% of tested individuals, and the median baseline serum tryptase was 20.55 μg/L. Common organ-related findings included osteoporosis (17.9%), osteopenia (21.7%), cutaneous lesions (29%), and hepatomegaly (4%). First-line symptomatic therapy (H/H antihistamines ± montelukast) was administered to 77% of patients, while four patients with advanced disease received midostaurin treatment. Immunophenotyping confirmed aberrant expression of CD2 and CD25 in all eight analyzed cases. This first national series from Romania underscores the predominance of indolent SM and the clinical burden of organ involvement, reinforcing the need for early diagnosis and personalized, risk-adapted therapeutic approaches.
系统性肥大细胞增多症（SM）是一种罕见的克隆性肥大细胞疾病，其临床表现和分子特征具有异质性，在不同地区有所不同；然而，中东欧的数据仍然有限。本研究旨在描述在布加勒斯特的国家肥大细胞疾病参考中心诊断并随访的罗马尼亚成年SM患者的人口统计学、临床、实验室和分子特征，同时探索实际的管理模式和结果。我们进行了一项回顾性观察研究，纳入了2006年1月至2025年3月期间评估的162例成年患者，这些患者符合2022年世界卫生组织的SM标准。从电子病历中提取的数据包括世界卫生组织亚型、突变状态、血清类胰蛋白酶水平、器官受累情况、治疗史和生存结果。采用描述性统计方法，连续变量以中位数和四分位数间距表示，分类变量以计数和百分比表示。对8例患者进行了骨髓流式细胞术免疫表型分析，以评估CD2和CD25的诊断作用。在整个队列中，惰性SM是最常见的类型（53.1%），其次是皮肤肥大细胞增多症（17.3%）、冒烟型SM（5.6%）、侵袭性SM（3.7%）和伴有血液系统肿瘤的SM（8%）。在43%的检测个体中检测到D816V突变，基线血清类胰蛋白酶中位数为20.55μg/L。常见的器官相关表现包括骨质疏松（17.9%）、骨质减少（21.7%）、皮肤病变（29%）和肝肿大（4%）。77%的患者接受了一线对症治疗（H1/H2抗组胺药±孟鲁司特），而4例晚期疾病患者接受了米哚妥林治疗。免疫表型分析证实，在所有8例分析病例中CD2和CD25均有异常表达。罗马尼亚的首个全国性系列研究强调了惰性SM的主导地位和器官受累的临床负担，强化了早期诊断以及个性化、风险适应性治疗方法的必要性。
