Jankovski Lucia, Rakusa Matej, Koceva Andrijana, Janež Andrej, Kopač Peter, Jensterle Mojca
Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Center Ljubljana, 1000 Ljubljana, Slovenia.
Int J Mol Sci. 2025 Jun 12;26(12):5649. doi: 10.3390/ijms26125649.
Mastocytosis is a heterogeneous group of disorders, distinguished by the monoclonal proliferation of mast cells (MCs) in one or more organs. While cutaneous mastocytosis (CM) is restricted to the skin, systemic mastocytosis (SM) presents with high MC infiltration of various organs. Indolent systemic mastocytosis (ISM) is the most common form in individuals with adult-onset of the disease. Bone health impairment is present in the vast majority of patients, ranging from osteoporosis to osteosclerosis, often presenting with fragility fractures. In this review, we comprehensively examine the impact of ISM on bone health, with particular emphasis on the molecular and cellular mechanisms underlying skeletal involvement, the clinical heterogeneity of bone manifestations, and the limitations of current diagnostic tools, while also evaluating emerging therapeutic strategies that target both MC activity and bone remodeling pathways.
肥大细胞增多症是一组异质性疾病,其特征是一个或多个器官中肥大细胞(MC)的单克隆增殖。皮肤肥大细胞增多症(CM)局限于皮肤,而系统性肥大细胞增多症(SM)则表现为各种器官中MC的高度浸润。惰性系统性肥大细胞增多症(ISM)是成人发病患者中最常见的形式。绝大多数患者存在骨骼健康损害,范围从骨质疏松到骨硬化,常伴有脆性骨折。在本综述中,我们全面研究了ISM对骨骼健康的影响,特别强调骨骼受累的分子和细胞机制、骨表现的临床异质性以及当前诊断工具的局限性,同时还评估了针对MC活性和骨重塑途径的新兴治疗策略。