Longitudinal Disease Progression in Mastocytosis Syndromes: a Retrospective Chart Review

Vogel, N.M.; Lichtin, Alan E.; Hsieh, Fred H.

doi:10.1016/j.jaci.2005.12.501

Cited by 2 publications

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“…However, subsequent studies have demonstrated that the frequency of clonal KIT mutations is similar in patients with CM, SM and MCAS, and that they are present in up to 86% of patients from each diagnostic group . In addition, several studies have reported the evolution of CM into SM, suggesting that the two disorders are not distinct, but may instead be part of a continuous spectrum of mast cell‐related dysfunction . However, unless otherwise stated, the present review is confined to discussion of the systemic MCAD variants in the definitions of the current consensus, i.e.…”

Section: Introductionmentioning

confidence: 99%

“…[17][18][19][20] In addition, several studies have reported the evolution of CM into SM, suggesting that the two disorders are not distinct, but may instead be part of a continuous spectrum of mast cell-related dysfunction. 18,[21][22][23][24] However, unless otherwise stated, the present review is confined to discussion of the systemic MCAD variants in the definitions of the current consensus, i.e. SM, MCAS and MCL.…”

Section: Introductionmentioning

confidence: 99%

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Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics

2012

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SummaryDespite increasing understanding of its pathophysiology, the aetiology of systemic mast cell activation disease (MCAD) remains largely unknown. Research has shown that somatic mutations in kinases are necessary for the establishment of a clonal mast cell population, in particular mutations in the tyrosine kinase Kit and in enzymes and receptors with crucial involvement in the regulation of mast cell activity. However, other, as yet undetermined, abnormalities are necessary for the manifestation of clinical disease. The present article reviews molecular genetic research into the identification of disease-associated genes and their mutational alterations. The authors also present novel data on familial systemic MCAD and review the associated literature. Finally, the importance of understanding the molecular basis of inherited mutations in terms of diagnostics and therapy is emphasized.

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Section: Introductionmentioning

confidence: 99%