BACKGROUND: Mastocytosis in adults often presents with skin lesions. A bone marrow biopsy is necessary to confirm or exclude the presence of systemic mastocytosis (SM) in these cases. When a bone marrow biopsy is not performed, the provisional diagnosis is mastocytosis in the skin (MIS). No generally accepted scoring system has been established to estimate the risk of SM in these patients. OBJECTIVE: To develop a risk score to predict SM in adults with MIS. METHODS: We examined 1145 patients with MIS from the European Competence Network on Mastocytosis Registry who underwent a bone marrow biopsy. A total of 944 patients had SM and 201 patients had cutaneous mastocytosis; 63.7% were female, and 36.3% were male. Median age was 44 ± 13.3 years. The median serum tryptase level amounted to 29.3 ± 81.9 ng/mL. We established a multivariate regression model using the whole population of patients as a training and validation set (bootstrapping). A risk score was developed and validated with receiver-operating curves. RESULTS: In the multivariate model, the tryptase level (P < .001), constitutional/cardiovascular symptoms (P = .014), and bone symptoms/osteoporosis (P < .001) were independent predictors of SM (P < .001; sensitivity, 90.7%; specificity, 69.1%). A 6-point risk score was established (risk, 10.7%-98.0%) and validated. CONCLUSIONS: Using a large data set of the European Competence Network on Mastocytosis Registry, we created a risk score to predict the presence of SM in patients with MIS. Although the score will need further validation in independent cohorts, our score seems to discriminate safely between patients with SM and with pure cutaneous mastocytosis.

• MeSH
• Adult MeSH
• Bone Marrow MeSH
• Mastocytosis, Cutaneous * diagnosis   epidemiology   MeSH
• Middle Aged MeSH
• Humans MeSH
• Mastocytosis * MeSH
• Mast Cells MeSH
• Mastocytosis, Systemic * diagnosis   epidemiology   MeSH
• Tryptases MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Mastocytosis is a rare neoplasm characterized by the expansion and accumulation of mast cells in various organ systems. Systemic mastocytosis (SM) may or may not present with cutaneous lesions. To examine the frequency and clinical impact of cutaneous involvement, data on 1,510 patients with mastocytosis collected in the registry of the European Competence Network on Mastocytosis were analyzed. Cutaneous involvement was found in 1,195 of 1,510 patients (79.1%). Of these, 286 had cutaneous mastocytosis, and 721 had SM with skin involvement. Adult patients with skin involvement who did not have a bone marrow examination (n = 188) were defined as having mastocytosis in the skin. In 315 patients, SM without skin involvement was found. The percentage of cases with cutaneous involvement was higher in indolent SM (100%) and smoldering SM (87.9%) compared to aggressive SM (46.8%) or mast cell leukemia (38.5%). After a median follow-up of 5.6 years, no patient with cutaneous mastocytosis had died, but 2.6% of the patients with mastocytosis in the skin, 5.7% of the patients with SM with skin involvement, and 28.95% of the patients with SM without skin involvement had died. Overall survival was longer in patients with skin involvement (cutaneous mastocytosis and/or mastocytosis in the skin and/or SM with skin involvement) than in patients with SM without skin involvement (P < 0.0001). These data argue for a thorough examination of both the skin and bone marrow in adult patients with mastocytosis.

• MeSH
• Survival Analysis MeSH
• Biopsy MeSH
• Time Factors MeSH
• Diagnosis, Differential MeSH
• Child MeSH
• Adult MeSH
• Infant MeSH
• Bone Marrow pathology   MeSH
• Mastocytosis, Cutaneous diagnosis   epidemiology   pathology   MeSH
• Skin pathology   MeSH
• Middle Aged MeSH
• Humans MeSH
• Mast Cells pathology   MeSH
• Adolescent MeSH
• Young Adult MeSH
• Child, Preschool MeSH
• Prognosis MeSH
• Registries statistics & numerical data   MeSH
• Aged MeSH
• Mastocytosis, Systemic diagnosis   mortality   pathology   MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Infant MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Child, Preschool MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH
• Observational Study MeSH
• Research Support, Non-U.S. Gov't MeSH

In systemic mastocytosis (SM), the clinical features and survival vary greatly. Patient-related factors determining the outcome in SM are largely unknown. Methods: We examined the impact of sex on the clinical features, progression-free survival (PFS), and overall survival (OS) in 3403 patients with mastocytosis collected in the registry of the European Competence Network on Mastocytosis (ECNM). The impact of cytogenetic and molecular genetic aberrations on sex differences was analyzed in a subset of patients. Results: Of all patients enrolled, 55.3% were females. However, a male predominance was found in a subset of advanced SM (AdvSM) patients, namely SM with an associated hematologic neoplasm (SM-AHN, 70%; p < 0.001). Correspondingly, organomegaly (male: 23% vs. female: 13%, p = 0.007) was more, whereas skin involvement (male: 71% vs. female: 86%, p = 0.001) was less frequent in males. In all patients together, OS (p < 0.0001) was significantly inferior in males, and also within the WHO sub-categories indolent SM, aggressive SM (ASM) and SM-AHN. PFS was significantly (p = 0.0002) worse in males when all patients were grouped together; due to low numbers of events, this significance persisted only in the subcategory smoldering SM. Finally, prognostically relevant cytogenetic abnormalities (10% vs. 5%, p = 0.006) or molecular aberrations (SRSF2/ASXL1/RUNX1 profile; 63% vs. 40%, p = 0.003) were more frequently present in males. Conclusions: Male sex has a major impact on clinical features, disease progression, and survival in mastocytosis. Male patients have an inferior survival, which seems related to the fact that they more frequently develop a multi-mutated AdvSM associated with a high-risk molecular background.

• MeSH
• Leukemia, Myeloid, Acute complications   MeSH
• Chromosome Aberrations * MeSH
• Child MeSH
• Progression-Free Survival MeSH
• Adult MeSH
• Gastrointestinal Diseases physiopathology   MeSH
• Hematologic Neoplasms complications   MeSH
• Hepatomegaly physiopathology   MeSH
• Infant MeSH
• Skin Diseases physiopathology   MeSH
• Middle Aged MeSH
• Humans MeSH
• Leukemia, Mast-Cell physiopathology   MeSH
• Survival Rate MeSH
• Adolescent MeSH
• Young Adult MeSH
• Myelodysplastic Syndromes complications   MeSH
• Infant, Newborn MeSH
• Child, Preschool MeSH
• Prognosis MeSH
• Core Binding Factor Alpha 2 Subunit genetics   MeSH
• Proto-Oncogene Proteins c-kit genetics   MeSH
• Repressor Proteins genetics   MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Serine-Arginine Splicing Factors genetics   MeSH
• Sex Factors * MeSH
• Splenomegaly physiopathology   MeSH
• Mastocytosis, Systemic complications   genetics   mortality   physiopathology   MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Infant MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Infant, Newborn MeSH
• Child, Preschool MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

• MeSH
• Myelodysplastic Syndromes MeSH

• Conspectus
• Patologie. Klinická medicína
• NML Fields
• hematologie a transfuzní lékařství
• NML Publication type
• otázky a odpovědi