Abstract
PurposeSystemic mastocytosis (SM) is characterized by the expansion of clonal mast cells that infiltrate various organ systems. The extent of organ infiltration and subsequent organ damage distinguishes between indolent SM (ISM) defined by a nearly normal life expectancy and advanced SM (AdvSM) defined by poor prognosis. In ISM, measurement of the bone mineral density (BMD) frequently reveals osteoporosis. In contrast, the clinical implication of an increased BMD and osteosclerosis remains unclear.MethodsBMD was evaluated in 61 patients with mastocytosis (ISM, n = 29, 48%; AdvSM, n = 32, 52%). We correlated the prevalence of osteoporosis, increased BMD and osteosclerosis with clinical parameters, disease variant and prognosis.ResultsOsteoporosis was detected in 11/29 (38%) patients with ISM but only in 2/32 (6%) patients with AdvSM (p = 0.004). An increased BMD was detected in 1/29 (3%) patients with ISM and 24/32 (75%) patients with AdvSM (p < 0.001) while osteosclerosis was only detected in AdvSM patients (16/32, 50%). AdvSM patients with increased BMD had higher levels of bone marrow mast cell infiltration, higher serum tryptase and alkaline phosphatase levels compared to ISM as well as higher number of high-molecular risk mutations (p < 0.05). In addition, we found that the prognosis of AdvSM patients with increased BMD is inferior compared to those without increased BMD (median overall survival 3.6 years versus not reached, p = 0.031).ConclusionsOsteoporosis is a common feature in ISM but not in AdvSM. An increased BMD is frequently present in AdvSM but not in ISM and is associated with more advanced disease and inferior outcome.
Highlights
Systemic mastocytosis (SM) is a rare hematological neoplasm characterized by the expansion of clonal mast cells that infiltrate various organ systems, e.g., bone marrow, liver, spleen, gastrointestinal tract, lymph nodes and skin (Horny et al 1985; Valent et al 2001, 2003; Metcalfe 2008; Jawhar et al 2015)
Significant differences between indolent SM (ISM) and advanced SM (AdvSM) included age, hemoglobin, platelets (263 × 109/L vs. 114 × 109/L), bone marrow (BM) mast cell infiltration, serum tryptase levels (36 μg/L vs. 211 μg/L), alkaline phosphatase, frequency of splenomegaly (14% versus 94%) and overall survival (OS, median not reached vs. 3.8 years, p < 0.0001)
Osteoporosis was detected in 11/29 (38%) patients with ISM but only in 2/32 (6%) patients with AdvSM, respectively (p = 0.004), while severe mastocytosis-related osteopenia was only diagnosed in ISM patients (n = 3, 10%)
Summary
Systemic mastocytosis (SM) is a rare hematological neoplasm characterized by the expansion of clonal mast cells that infiltrate various organ systems, e.g., bone marrow, liver, spleen, gastrointestinal tract, lymph nodes and skin (Horny et al 1985; Valent et al 2001, 2003; Metcalfe 2008; Jawhar et al 2015). According to the World Health Organization (WHO), the extent of organ infiltration and subsequent organ damage distinguishes between indolent SM (ISM) and advanced SM (AdvSM). AdvSM comprises patients with SM and an associated hematologic neoplasm (SM-AHN), aggressive SM (ASM) and mast cell leukemia (MCL) (Arber et al 2016). Journal of Cancer Research and Clinical Oncology (2020) 146:945–951 patients usually have a high disease burden, multiple-organ damage and poor prognosis with median overall survival of approximately 3–4 years (Jawhar et al 2016, 2017a, b, 2019; Valent et al 2017; Sperr et al 2019). The association between SM subtypes and increased BMD or osteosclerosis is yet unknown
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