Epidemiology of systemic mastocytosis in Denmark

Cohen, Sarah S.; Skovbo, Stine; Vestergaard, Hanne; Kristensen, Thomas Kielsgaard; Møller, Michael; Bindslev‐Jensen, Carsten; Fryzek, Jon P.; Broesby‐Olsen, Sigurd

doi:10.1111/bjh.12916

Cited by 175 publications

(154 citation statements)

References 12 publications

(18 reference statements)

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“…This notwithstanding, we noticed significant differences in OS depending on the disease subtypes, as also reported in other series [7][8][9]. In particular, the overall good prognosis of indolent forms is confirmed herein, while we report a significantly high rate of transformation to AML in as many as 32% of patients with ASM within a median time of 2 years from diagnosis.…”

Section: Discussionsupporting

confidence: 90%

“…However, considering the low incidence and prevalence of the disorder, robust information about disease characteristics at presentation and evolution are still missing since only a few studies reporting series larger than 100 patients, most of which were advanced cases [7][8][9]. The aim of this study was to collect a large number of patients with a diagnosis of SM to describe modalities of disease presentation, disease course and conventional prognostic variables, as well as report information about conventional therapeutic management, in a real-life settings through a retrospective analysis conducted in Italian tertiary centers that have specific programs dedicated to this disease.…”

Section: Introductionmentioning

confidence: 99%

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Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients

et al. 2016

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Systemic mastocytosis is a rare heterogeneous myeloproliferative neoplasm characterized by abnormal proliferation and activation of mast cells. We describe a large multicentre series of 460 adult patients with systemic mastocytosis, with a diagnosis based on WHO 2008 criteria, in a "real-life" setting of ten Italian centers with dedicated multidisciplinary programs. We included indolent forms with (n 5 255) and without (n 5 165) skin lesions, smouldering (n 5 20), aggressive (n 5 28), associated with other hematological diseases mastocytosis (n 5 21) and mast cell leukemia (n 5 1). This series was uniquely characterized by a substantial proportion of patients with low burden of neoplastic mast cells; notably, 38% of cases were diagnosed using only minor diagnostic criteria according to WHO 2008 classification, underlying the feasibility of early diagnosis where all diagnostic approaches are made available. This has particular clinical relevance for prevention of anaphylaxis manifestations, that were typically associated with indolent forms. In multivariate analysis, the most important features associated with shortened overall survival were disease subtype and age at diagnosis >60 years. Disease progression was correlated with mastocytosis subtype and thrombocytopenia. As many as 32% of patients with aggressive mastocytosis suffered from early evolution into acute leukemia. Overall, this study provides novel information about diagnostic approaches and current presentation of patients with SM and underlines the importance of networks and specialized centers to facilitate early diagnosis and prevent disease-associated manifestations.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients

et al. 2016

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“…The actual prevalence of mastocytosis is unknown, but an estimate from a recent population-based study is approximately 1/10,000 (1,2). Organ systems typically involved are the bone marrow, skin, liver, lymph nodes, and gastrointestinal tract.…”

Section: Introductionmentioning

confidence: 99%

An Unusual Trigger for Cutaneous Mastocytosis: The Insulin Pump

Akelma¹,

Buluş²,

Koçak³

et al. 2017

Asthma Allergy Immunol

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ÖZMastositoz cilt başta olmak üzere kemik iliği, karaciğer, dalak, lenf nodları ve gastrointestinal sistemde mast hücrelerinin klonal artışı karakterize nadir görülen bir hastalıktır. Bazı faktörlerin mastositozlu hastaların semptomlarını tetiklediği bilinmektedir. Bu yazıda, Tip 1 diabetes mellitus (DM) olan hastada, insülin pompa tedavisine bağlı semptomları tetiklenen kutanöz mastositoz olgusu sunulmuştur. Kutanöz mastositoz ve Tip 1 DM tanısı konulan 13 yaşındaki erkek çocukta, insülin pompa ile verilen insülin lispro tedavisinden 2-3 gün sonra meydana gelen çok sayıda kaşıntılı papüler lezyonlar görüldü. Mastositoz olarak değerlendirilen lezyonlardan alınan punch biyopside papiller dermiste yaygın mast hücre infiltrasyonu görüldü. Mevcut bulgulardan yola çıkarak, insülin pompa kateterinin lokal mikro travma ile fiziksel uyaran oluşturduğu ve mastositoz lezyonlarının buna bağlı meydana geldiği düşünüldü. Pompa insülin tedavisi kesilip kateter uygulamasından vazgeçildi. İzleminde yeni lezyon çıkmadığı ve gluteal ve periumblikal bölgedeki lezyonların da hiperpigmentasyon ile düzeldiği görüldü. Doğrulama için yeniden insülin pompa kateteri takılan yerlerde 3 gün sonra aynı lezyonlar tekrarladı. Bu olgu nedeniyle, en az 48 saatlik süre boyunca cilt altında kalan kateterin, mastositozda lezyonları tetikleyebileceğini literatürde ilk defa ortaya koyduk. ABSTRACTMastocytosis is a relatively infrequent disorder characterized by mast cell proliferation within primarily the skin, but also various organs such as the bone marrow, liver, spleen, lymph nodes and the gastrointestinal system. Several factors are known to induce symptoms in patients with mastocytosis. A 13-year-old boy with cutaneous mastocytosis and type 1 diabetes mellitus developed multiple itchy papules 2 to 3 days after he started receiving insulin (lispro) pump therapy. Punch biopsy revealed widespread mast cell infiltration on the papillary dermis. We hypothesized that the insulin pump catheter caused a physical stimulus due to local microtrauma and resulted in the formation of the lesions. We, therefore, discontinued insulin pump treatment and switched to SC insulin therapy. While previous lesions healed successfully, no new lesions occurred. To confirm our hypothesis, we repeated the procedure and observed the occurrence of similar lesions around the insulin pump catheter. Herein, we present for the first time, a patient with type 1 diabetes mellitus and cutaneous mastocytosis who developed exacerbation of lesions during insulin pump therapy.Anahtar kelimeler: Mastositoz, kateter, tetikleyici

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“…In the Danish nationwide cohort study, the incidence and prevalence rates were 0.89 per 100,000 inhabitants per year and 9.59 per 100,000 inhabitants, respectively, for the period between 1997 and 2010 [2]. Similarly, in the Groningen region, The Netherlands, prevalence of indolent SM (ISM) was estimated at 13 per 100,000 inhabitants, albeit with a roughly five-to sixfold increase in cases from 1998 to 2010, the latter likely relating to a recent increased awareness of SM combined with advances in diagnostic testing and expertise in specialized centers for this disease [3].…”

mentioning

confidence: 99%

Systemic mastocytosis: evolving lessons from large patient registry datasets

Pardanani

2016

American J Hematol

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Systemic mastocytosis (SM) is a clinically heterogeneous and relatively infrequent chronic myeloproliferative neoplasm [1]. In the Danish nationwide cohort study, the incidence and prevalence rates were 0.89 per 100,000 inhabitants per year and 9.59 per 100,000 inhabitants, respectively, for the period between 1997 and 2010 [2]. Similarly, in the Groningen region, The Netherlands, prevalence of indolent SM (ISM) was estimated at 13 per 100,000 inhabitants, albeit with a roughly five-to sixfold increase in cases from 1998 to 2010, the latter likely relating to a recent increased awareness of SM combined with advances in diagnostic testing and expertise in specialized centers for this disease [3]. The increasing number of cases diagnosed with SM at least partly reflects the development of standardized diagnostic, classification and treatment-response criteria by international collaborative organizations such as the World Health Organization (WHO) and European Competence Network on Mastocytosis (ECNM) [4][5][6]. Prior to these larger-scale projects, most SM related data emerged from single center or single country registry studies, which despite their inherent limitations helped establish the early foundational principles of SM evaluation and treatment [7][8][9][10][11][12][13]. The article by Pieri et al. in the current issue of the American Journal of Hematology represents a large study of SM patients from 10 Italian centers with dedicated mastocytosis programs participating in the Italian Registry of Mastocytosis [14].There are two aspects of special note related to the study by Pieri et al. First, it represents the largest study of SM patients diagnosed by WHO 2008 criteria ever published [5]. Second, patients in this study were diagnosed relatively recently, with 75% being diagnosed between the years 2009 and 2014. The latter aspect ensured the use of relatively state-of-the-art diagnostic testing in the current study, which is not the case in older studies wherein a significant subset of patients was diagnosed prior to the development of such tests. A downside, however, of the recency bias in the article by Pieri et al. is the short patient follow up which limits the conclusions one might draw regarding clinical outcomes in SM patients.There are several additional observations that flow from the above two points: first, while the study by Pieri et al. includes 460 patients, as compared with the erstwhile largest study of 342 patients from the Mayo Clinic group [8], it is unclear whether either study is generalizable to the SM patient at large. While both were multidisciplinary studies, the former is predominantly a study of ISM patients (89% of all cases), likely reflecting a bias toward patient enrollment via dermatology and/or allergy clinics (73% had allergy/anaphylaxis symptoms). In contrast, the study by Lim et al. exhibited a hematology bias with 46% and 40% presenting with ISM and SM with associated clonal non-mast cell lineage disease (SM-AHNMD), respectively. This has to be taken into account when ex...

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Epidemiology of systemic mastocytosis in Denmark

Cited by 175 publications

References 12 publications

Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients

Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients

An Unusual Trigger for Cutaneous Mastocytosis: The Insulin Pump

Systemic mastocytosis: evolving lessons from large patient registry datasets

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