{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T12:05:08Z","timestamp":1788264308906,"version":"build-2803163510"},"reference-count":42,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T00:00:00Z","timestamp":1660608000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Konsul TH C Bergh Foundation, Sweden"},{"name":"the Swedish Society of Medicine, Sweden"},{"name":"Stockholm County Council Research Funds (ALF), Sweden"},{"name":"Swedish Cancer Society, Stockholm Cancer Society Radiumhemmet, Sweden"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Systemic mastocytosis (SM) is a rare, clonal, clinically heterogeneous disorder of the mast cells (MCs), and mainly affects adults. The present study aims to describe the clinical and laboratory features as well as the outcomes of SM. A 15-year retrospective study was conducted on 195 consecutive SM patients (aged \u2265 18 years) diagnosed in 2006\u20132020 at the Multidisciplinary Mastocytosis Center at Karolinska University Hospital. Patients with indolent SM (ISM) represented the most common SM variant (88.2%). Furthermore, the frequencies of aggressive SM and SM with associated non-mast-cell hematological neoplasm were 4.1% and 7.7%, respectively. The prevalence of SM in the adult population of the Stockholm region was estimated to be 10.6\/100,000 inhabitants, and the mean incidence of SM cases in the Stockholm region was 0.77\/100,000 people per year. In this series, tryptase levels were below 20 ng\/mL in 51 patients (26%). Osteoporosis was present in 21.9% of all cases. Interestingly, there was no progression from ISM to advanced SM variants in our study. Furthermore, overall survival was significantly better in ISM patients compared to advanced SM patients (p &lt; 0.0001). Our data suggest that the early recognition and correct diagnosis of SM has prognostic significance.<\/jats:p>","DOI":"10.3390\/cancers14163942","type":"journal-article","created":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T23:44:25Z","timestamp":1660693465000},"page":"3942","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Clinical Outcomes of Adults with Systemic Mastocytosis: A 15-Year Multidisciplinary Experience"],"prefix":"10.3390","volume":"14","author":[{"given":"Johanna","family":"Ungerstedt","sequence":"first","affiliation":[{"name":"HERM Hematology and Regenerative Center, Department of Medicine Huddinge Karolinska Institutet, SE-14183 Stockholm, Sweden"},{"name":"ME Hematology, Karolinska University Hospital, SE-14186 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Ljung","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine and Allergy, Karolinska University Hospital Huddinge, SE-14186 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Klimkowska","sequence":"additional","affiliation":[{"name":"Pathology Unit, Department of Laboratory Medicine, Karolinska Institutet, SE-14183 Huddinge, Sweden"},{"name":"Department of Clinical Pathology and Cytology, Karolinska University Hospital, SE-14186 Huddinge, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1683-8882","authenticated-orcid":false,"given":"Theo","family":"G\u00fclen","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine and Allergy, Karolinska University Hospital Huddinge, SE-14186 Stockholm, Sweden"},{"name":"Department of Medicine Solna, Karolinska Institutet, SE-17177 Stockholm, Sweden"},{"name":"Department of Medicine Huddinge, Karolinska Institutet, SE-14183 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,8,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1111\/joim.12410","article-title":"Mastocytosis: The puzzling clinical spectrum and challenging diagnostic aspects of an enigmatic disease","volume":"279","author":"Nilsson","year":"2016","journal-title":"J. Intern. Med."},{"key":"ref_2","first-page":"1420","article-title":"Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts","volume":"129","author":"Valent","year":"2017","journal-title":"Blood J. Am. Soc. Hematol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","article-title":"The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic\/Dendritic Neoplasms","volume":"36","author":"Khoury","year":"2022","journal-title":"Leukemia"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1111\/all.14248","article-title":"Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification","volume":"75","author":"Trizuljak","year":"2020","journal-title":"Allergy"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1038\/s41375-021-01406-y","article-title":"Refined diagnostic criteria for bone marrow mastocytosis: A proposal of the European competence network on mastocytosis","volume":"36","author":"Zanotti","year":"2022","journal-title":"Leukemia"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1136\/jcp.2003.014860","article-title":"Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: A histopathological challenge","volume":"57","author":"Horny","year":"2004","journal-title":"J. Clin. Pathol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/s002770050382","article-title":"A case of bone marrow mastocytosis associated with multiple myeloma","volume":"76","author":"Hagen","year":"1998","journal-title":"Ann. Hematol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"3540","DOI":"10.1007\/s12032-012-0261-5","article-title":"Systemic mastocytosis: Progressive evolution of an occult disease into fatal mast cell leukemia: Unique findings on an unusual hematological neoplasm","volume":"29","author":"Gulen","year":"2012","journal-title":"Med. Oncol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1016\/j.jaci.2012.10.015","article-title":"Prevalence of Indolent Systemic Mastocytosis in a Dutch Region","volume":"131","author":"Arends","year":"2013","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1111\/bjh.12916","article-title":"Epidemiology of Systemic Mastocytosis in Denmark","volume":"166","author":"Cohen","year":"2014","journal-title":"Br. J. Haematol."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Zanotti, R., Bonifacio, M., Isolan, C., Tanasi, I., Crosera, L., Olivieri, F., Orsolini, G., Schena, D., and Bonadonna, P. (2021). A Multidisciplinary Diagnostic Approach Reveals a Higher Prevalence of Indolent Systemic Mastocytosis: 15-Years\u2019 Experience of the GISM Network. Cancers, 13.","DOI":"10.3390\/cancers13246380"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.iac.2014.01.003","article-title":"Epidemiology, prognosis, and risk factors in mastocytosis","volume":"34","author":"Brockow","year":"2014","journal-title":"Immunol. Allergy Clin. N. Am."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1111\/cea.12225","article-title":"High prevalence of anaphylaxis in patients with systemic\u2014A single-centre experience","volume":"44","author":"Nilsson","year":"2014","journal-title":"Clin. Exp. Allergy"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"75.e1","DOI":"10.1016\/j.amjmed.2012.07.018","article-title":"Bone complications of mastocytosis: A link between clinical and biological characteristics","volume":"126","author":"Guillaume","year":"2013","journal-title":"Am. J. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.jaip.2013.09.004","article-title":"The Mastocytosis Society survey on mast cell disorders: Patient experiences and perceptions","volume":"2","author":"Jennings","year":"2014","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1111\/cea.12369","article-title":"The presence of mast cell clonality in patients with unexplained anaphylaxis","volume":"44","author":"Sander","year":"2014","journal-title":"Clin. Exp. Allergy"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1016\/j.jaip.2017.02.008","article-title":"Risk factor analysis to predict anaphylactic reactions in patients with systemic mastocytosis","volume":"5","author":"Ljung","year":"2017","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"3093","DOI":"10.1016\/j.jaip.2020.05.044","article-title":"Low frequency of IgE-mediated food-hypersensitivity in mastocytosis","volume":"8","author":"Jarkvist","year":"2020","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/all.13980","article-title":"Venom immunotherapy in patients with clonal mast cell disorders: IgG4 correlates with protection","volume":"75","author":"Jarkvist","year":"2020","journal-title":"Allergy"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1016\/S0140-6736(14)60585-7","article-title":"Flushing, fatigue, and recurrent anaphylaxis: A delayed diagnosis of mastocytosis","volume":"383","author":"Sander","year":"2014","journal-title":"Lancet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1189\/jlb.5RU0614-296R","article-title":"The immunophenotype of mast cells and its utility in the diagnostic work-up of systemic mastocytosis","volume":"97","author":"Teodosio","year":"2015","journal-title":"J. Leukoc. Biol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1002\/ajh.23672","article-title":"KIT D816V Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis","volume":"89","author":"Kristensen","year":"2014","journal-title":"Am. J. Hematol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1002\/jbmr.5650090802","article-title":"The diagnosis of osteoporosis","volume":"9","author":"Kanis","year":"1994","journal-title":"J. Bone Miner. Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1002\/sim.3150","article-title":"A critical appraisal of propensity-score matching in the medical literature between 1996 and 2003","volume":"27","author":"Austin","year":"2008","journal-title":"Stat. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.ejim.2016.01.005","article-title":"Systemic mastocytosis: A cohort study on clinical characteristics of 136 patients in a large tertiary centre","volume":"30","author":"Hermans","year":"2016","journal-title":"Eur. J. Intern. Med."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"e638","DOI":"10.1016\/S2352-3026(19)30166-8","article-title":"International Prognostic Scoring System for Mastocytosis (IPSM): A Retrospective Cohort Study","volume":"6","author":"Sperr","year":"2019","journal-title":"Lancet Haematol."},{"key":"ref_27","first-page":"5727","article-title":"Systemic Mastocytosis in 342 Consecutive Adults: Survival Studies and Prognostic Factors","volume":"113","author":"Lim","year":"2009","journal-title":"Blood J. Am. Soc. Hematol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"292","DOI":"10.7150\/thno.51872","article-title":"Cytogenetic and Molecular Aberrations and Worse Outcome for Male Patients in Systemic Mastocytosis","volume":"11","author":"Jawhar","year":"2021","journal-title":"Theranostics"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"3121","DOI":"10.1016\/j.jaip.2020.05.005","article-title":"Importance of adequate diagnostic workup for correct diagnosis of advanced systemic mastocytosis","volume":"8","author":"Schwaab","year":"2020","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1838","DOI":"10.1136\/ard.2009.124511","article-title":"Systemic mastocytosis and bone involvement in a cohort of 75 patients","volume":"69","author":"Barete","year":"2010","journal-title":"Ann. Rheum. Dis."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/s11657-013-0137-0","article-title":"Osteoporosis in the European Union: A compendium of country-specific reports","volume":"8","author":"Svedbom","year":"2013","journal-title":"Arch. Osteoporos."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"583","DOI":"10.2340\/00015555-1788","article-title":"Increased risk of malignant melanoma in patients with systemic mastocytosis?","volume":"94","author":"Sander","year":"2014","journal-title":"Acta Derm. Venereol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1002\/ajh.24490","article-title":"Risk of solid cancer, cardiovascular disease, anaphylaxis, osteoporosis and fractures in patients with systemic mastocytosis: A nationwide population-based study","volume":"91","author":"Farkas","year":"2016","journal-title":"Am. J. Hematol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1111\/all.12409","article-title":"The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease","volume":"69","author":"Hoermann","year":"2014","journal-title":"Allergy"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2342","DOI":"10.1038\/leu.2016.190","article-title":"Splenomegaly, elevated alkaline phosphatase and mutations in the SRSF2\/ASXL1\/RUNX1 gene panel are strong adverse prognostic markers in patients with systemic mastocytosis","volume":"30","author":"Jawhar","year":"2016","journal-title":"Leukemia"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1038\/leu.2015.348","article-title":"CD123 immunostaining patterns in systemic mastocytosis: Differential expression in disease subgroups and potential prognostic value","volume":"30","author":"Pardanani","year":"2016","journal-title":"Leukemia"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/leu.2015.284","article-title":"Additional mutations in SRSF2, ASXL1 and\/or RUNX1 identify a high-risk group of patients with KIT D816V+ advanced systemic mastocytosis","volume":"30","author":"Jawhar","year":"2016","journal-title":"Leukemia"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"366","DOI":"10.3324\/haematol.2019.217950","article-title":"Molecular quantification of tissue disease burden is a new biomarker and independent predictor of survival in mastocytosis","volume":"105","author":"Greiner","year":"2020","journal-title":"Haematologica"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1038\/s41408-019-0189-5","article-title":"World Health Organization class independent risk categorization in mastocytosis","volume":"9","author":"Pardanani","year":"2019","journal-title":"Blood Cancer J."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1016\/j.jaci.2009.05.003","article-title":"Prognosis in adult indolent systemic mastocytosis: A long-term study of the Spanish Network on Mastocytosis in a series of 145 patients","volume":"124","author":"Escribano","year":"2009","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1038\/modpathol.2011.84","article-title":"Evaluation of the WHO criteria for the classification of patients with mastocytosis","volume":"24","author":"Teodosio","year":"2011","journal-title":"Mod. Pathol."},{"key":"ref_42","first-page":"456","article-title":"Frequency and prognostic impact of KIT and other genetic variants in indolent systemic mastocytosis","volume":"134","author":"Henriques","year":"2019","journal-title":"Blood J. Am. Soc. Hematol."}],"container-title":["Cancers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6694\/14\/16\/3942\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:09:17Z","timestamp":1760141357000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6694\/14\/16\/3942"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,16]]},"references-count":42,"journal-issue":{"issue":"16","published-online":{"date-parts":[[2022,8]]}},"alternative-id":["cancers14163942"],"URL":"https:\/\/doi.org\/10.3390\/cancers14163942","relation":{},"ISSN":["2072-6694"],"issn-type":[{"value":"2072-6694","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,16]]}}}