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Clinical impact and proposed application of molecular markers, genetic variants, and cytogenetic analysis in mast cell neoplasms: Status 2022

Mast cell neoplasms are an emerging challenge in the fields of internal medicine, allergy, immunology, dermatology, laboratory medicine, and pathology. In this review, we discuss the current standards for the diagnosis and prognostication of mast cell neoplasms with special reference to clinically r...

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Main Authors: Arock, Michel (Author) , Hoermann, Gregor (Author) , Sotlar, Karl (Author) , Hermine, Olivier (Author) , Sperr, Wolfgang R. (Author) , Hartmann, Karin (Author) , Brockow, Knut (Author) , Akin, Cem (Author) , Triggiani, Massimo (Author) , Broesby-Olsen, Sigurd (Author) , Reiter, Andreas (Author) , Gotlib, Jason (Author) , Horny, Hans-Peter (Author) , Orfao, Alberto (Author) , Metcalfe, Dean D. (Author) , Valent, Peter (Author)
Format: Article (Journal)
Language:English
Published: June 2022
In: The journal of allergy and clinical immunology
Year: 2022, Volume: 149, Issue: 6, Pages: 1855-1865
ISSN:1097-6825
DOI:10.1016/j.jaci.2022.04.004
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.jaci.2022.04.004
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0091674922004869
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Author Notes:Michel Arock, Gregor Hoermann, Karl Sotlar, Olivier Hermine, Wolfgang R. Sperr, Karin Hartmann, Knut Brockow, Cem Akin, Massimo Triggiani, Sigurd Broesby-Olsen, Andreas Reiter, Jason Gotlib, Hans-Peter Horny, Alberto Orfao, Dean D. Metcalfe, and Peter Valent
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Summary:Mast cell neoplasms are an emerging challenge in the fields of internal medicine, allergy, immunology, dermatology, laboratory medicine, and pathology. In this review, we discuss the current standards for the diagnosis and prognostication of mast cell neoplasms with special reference to clinically relevant germline and somatic gene variants. In patients with cutaneous mastocytosis or with indolent systemic mastocytosis (SM), various KIT-activating mutations act as key molecular drivers of the disease. In adults, KIT p.D816V is by far the most prevalent driver, whereas other KIT mutants are detected in nearly 40% of children. In advanced SM, including aggressive SM, SM with an associated hematological neoplasm, and mast cell leukemia, additional somatic mutations in other genes, such as SRSF2, JAK2, RUNX1, ASXL1, or RAS, may be detected. These drivers are more frequently detected in SM with an associated hematological neoplasm, particularly in male patients. Recently, hereditary alpha-tryptasemia has been identified as a genetic trait more prevalent in SM compared with healthy controls. Moreover, hereditary alpha-tryptasemia is more frequent in patients with SM with Hymenoptera venom allergy and severe mediator-related symptoms than in patients with SM without symptoms. On the basis of this knowledge, we propose a diagnostic algorithm in which genetic markers are applied together with clinical and histopathologic criteria to establish the diagnosis and prognosis in SM.
Item Description:Online verfügbar: 14 April 2022, Artikelversion: 3 June 2022
Gesehen am 08.01.2024
Physical Description:Online Resource
ISSN:1097-6825
DOI:10.1016/j.jaci.2022.04.004

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