Recognizing mastocytosis in patients with anaphylaxis: Value of KIT D816V mutation analysis of peripheral blood

Broesby‐Olsen, Sigurd; Oropeza, Athamaica Ruiz; Bindslev‐Jensen, Carsten; Vestergaard, Hanne; Møller, Michael; Siebenhaar, Frank; Kristensen, Thomas Kielsgaard; Mørtz, Charlotte G.

doi:10.1016/j.jaci.2014.06.031

Cited by 46 publications

(34 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Mastocytosis was diagnosed in 7.7% of adults (two females, six males) all with positive KIT D816V mutation analysis, of whom four have been included in a previous publication from our center . All eight patients had indolent systemic mastocytosis fulfilling WHO diagnostic criteria.…”

Section: Resultsmentioning

confidence: 99%

“…Comorbidities such as asthma or cardiovascular disease have been described to increase the severity of anaphylactic reactions . Similarly, in patients with mastocytosis there is a clearly increased risk of anaphylaxis and severe reactions, and this heterogeneous disease may easily be overlooked if appropriate diagnostic tools are not applied . Cofactors such as exercise, infection, use of nonsteroidal anti‐inflammatory drugs (NSAIDs), and/or alcohol consumption are described to play an important role in up to 30% of anaphylactic reactions as they may increase the severity and probably lower the threshold for the allergen dose needed to elicit the reaction …”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Patterns of anaphylaxis after diagnostic workup: A follow‐up study of 226 patients with suspected anaphylaxis

Oropeza

Bindslev‐Jensen

Broesby‐Olsen

et al. 2017

Allergy

View full text Add to dashboard Cite

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Patterns of anaphylaxis after diagnostic workup: A follow‐up study of 226 patients with suspected anaphylaxis

Oropeza

Bindslev‐Jensen

Broesby‐Olsen

et al. 2017

Allergy

View full text Add to dashboard Cite

show abstract

“…Conversely, the same methodologies were able to detect the mutation in 92% of BM samples, where mutation burden is higher, in line with others' experience. Therefore, as recently suggested, standardized and highly sensitive method of detection need to be devised and implemented to allow the convenient use of peripheral blood samples as a screening tools in patients suspected to have SM [19,27,28].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2016

View full text Add to dashboard Cite

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.

show abstract

“…Sensitive KIT D816V mutation analysis of blood has therefore been proposed as a tool to guide BM investigation in suspected SM and has been included in recent consensus diagnostic algorithms . We recently validated this approach in patients with anaphylaxis and identified patients with SM on the basis of a D816V‐positive blood sample . We therefore now systematically perform KIT D816V mutation analysis of blood as a diagnostic test in patients with suspected SM at the Mastocytosis Centre Odense University Hospital (MastOUH).…”

Section: Introductionmentioning

confidence: 99%

Prospective evaluation of the diagnostic value of sensitive KIT D816V mutation analysis of blood in adults with suspected systemic mastocytosis

Kristensen

Vestergaard

Bindslev‐Jensen

et al. 2017

Allergy

View full text Add to dashboard Cite

This prospective study demonstrates that a D816V-positive result in a screening blood sample identifies SM among patients with hymenoptera venom-induced anaphylaxis in whom the diagnosis would most probably have been missed, with potential severe implications. The observed false-negative screening results also underline that BM investigation is mandatory in all adult patients with clear signs of, or highly suspected SM, regardless of the KIT mutation status.

show abstract

Recognizing mastocytosis in patients with anaphylaxis: Value of KIT D816V mutation analysis of peripheral blood

Cited by 46 publications

References 9 publications

Patterns of anaphylaxis after diagnostic workup: A follow‐up study of 226 patients with suspected anaphylaxis

Patterns of anaphylaxis after diagnostic workup: A follow‐up study of 226 patients with suspected anaphylaxis

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

Prospective evaluation of the diagnostic value of sensitive KIT D816V mutation analysis of blood in adults with suspected systemic mastocytosis

Contact Info

Product

Resources

About