Transcriptomic analysis of the bone marrow can identify biomarkers associated with osteoporosis in systemic mastocytosis (SM), according to a new study presented at the European Alliance of Associations for Rheumatology 2022 European Congress of Rheumatology and published in Annals of the Rheumatic Diseases.

Around one-third of patients with SM have vertebral osteoporosis, which can result in multiple fractures, the authors said. To identify bone marrow cells that may be involved in vertebral osteoporosis in SM, a team of researchers led by Cristina Bulai Livideanu, MD, from the Hospital Center University De Toulouse in France conducted a transcriptomic analysis of bone marrow samples collected at diagnosis from patients with SM.

They divided the patients into 2 groups. The first consisted of 12 patients with osteoporosis and fragility fractures while the second comprised the same number of patients without osteoporosis and fragility fractures. The researchers then compared the bone marrow mRNA profile of patients in each group.

Read more about the complications of SM

They found that there was a specific transcriptomic profile associated with osteoporotic vertebral fractures with 26 differentially expressed genes between the 2 groups. The transcriptomic analysis showed the involvement of NECTIN2 and of IL6/STAT3 in osteoporotic fractures.

When they conducted a pathway analysis, the researchers found that genes that play a role in cell cycle regulation, T cell activation, protein kinase activity, and the differentiation and activation of monocytic cells played a role in this process.

“In addition to the pathogenic role of clonal mast cells and of monocytic lineage, [vertebral osteoporosis in SM] may involve non-clonal immune cells such as T cells,” the researchers concluded.

SM is characterized by the focal and/or diffuse infiltration of neoplastic mast cells in multiple organs such as the bone marrow, liver, spleen, and gastrointestinal tract.


Degboe Y, Constantin A, Ruyssen-Witrand A, Paul C, Dubreuil P, Livideanu B. Characterization of the transcriptomic signature of bone marrow cells in osteoporosis associated with systemic mastocytosis. Ann Rheum Dis. 2022;81:427. doi:10.1136/annrheumdis-2022-eular.3298