Primary Mast Cell Disorders in Children

Fried, Ari J.; Akin, Cem

doi:10.1007/s11882-013-0392-6

Cited by 21 publications

(20 citation statements)

References 44 publications

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“…{Fried, 2013 #1466} In the latter case, a thorough BM examination is recommended, including KIT mutation analysis. {Valent, 2007 #1598} In some patients in whom the diagnosis CM is in question because of atypical skin lesions and/or a questionable histology, lesional skin can be examined for the presence of KIT mutations.…”

Section: Recommendations For Cells and Assays To Be Used For Kit Mutamentioning

confidence: 99%

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KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis

et al. 2015

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Although acquired mutations in KIT are commonly detected in various categories of mastocytosis, the methodologies applied to detect and quantify the mutant type and -burden in various tissues and cells are poorly defined. We here propose a consensus on methodologies used to detect KIT mutations in patients with mastocytosis at diagnosis and in the follow up with sufficient precision and sensitivity in daily practice. In addition, we provide recommendations for sampling and storage of diagnostic material as well as a robust diagnostic algorithm. Using highly-sensitive assays, KIT D816V can be detected in peripheral blood leukocytes in most patients with systemic mastocytosis (SM) which is a major step forward in screening and SM detection. In addition, the KIT D816V allele burden can be followed quantitatively during the natural course or during therapy in these patients. Our recommendations should greatly facilitate diagnostic and follow up investigations in SM in daily practice as well as in clinical trials. In addition, the new tools and algorithms proposed should lead to a more effective screen, early detection of SM, and help avoid unnecessary referrals.

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Section: Recommendations For Cells and Assays To Be Used For Kit Mutamentioning

confidence: 99%

“…{Vano-Galvan, 2011 #1447} In children, the disease has a tendency to regress spontaneously,{Arock, 2010 #80} although some persist into adulthood. {Fried, 2013 #1466} By contrast, in most adult patients, the disease is systemic and chronic and affects almost invariably the BM. These cases are called systemic mastocytosis, SM.…”

Section: Introductionmentioning

confidence: 99%

KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis

et al. 2015

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“…Two major forms of mastocytosis are described: cutaneous mastocytosis (CM) and systemic mastocytosis (SM). CM is the most frequent presentation in children, and in most cases, regresses spontaneously at the puberty onset (4). In contrast, SM more often develops in adults and may persist throughout life (5).…”

Section: Introductionmentioning

confidence: 99%

Targeted Treatment Options in Mastocytosis

2017

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Mastocytosis refers to a heterogeneous group of disorders resulting from the clonal proliferation of abnormal mast cells and their accumulation in the skin (cutaneous mastocytosis when only in the skin, CM) or in various organs (systemic mastocytosis, SM). This leads to a wide variety of clinical manifestations resulting from excessive mediator release in CM and benign forms of SM (indolent SM, ISM) and from tissue mast cell infiltration causing multiorgan dysfunction and failure in more aggressive subtypes (aggressive SM, ASM, or mast cell leukemia). In addition, SM may be associated with hematological neoplasms (AHN). While treatment of ISM primarily aims at symptom management with anti-mediator therapies, cytoreductive and targeted therapies are needed to control the expansion of neoplastic mast cells in advanced forms of SM, in order to improve overall survival. Mast cell accumulation results from a gain-of-function mutation (mostly the D816V mutation) within the KIT tyrosine kinase domain expressed by mast cells and additional genetic and epigenetic mutations may further determine the features of the disease (ASM and AHN). Consequently, tyrosine kinase inhibitors and targeted therapies directed against the oncogenic signaling machinery downstream of KIT are attractive therapeutic approaches. A better understanding of the relative contribution of these genetic and epigenetic events to the molecular pathogenesis of mastocytosis is of particular interest for the development of targeted therapies and therefore to better choose patient subgroups that would best benefit from a given therapeutic strategy.

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“…The clinical manifestation of the disease is due to an unspecific degranulation of MC and the action of the mediators released. In some cases degranulation, apart from very intensive local or generalised redness of the skin, may result in dizziness, weakness, hypotension, or even loss of consciousness [2–5]. …”

Section: Introductionmentioning

confidence: 99%

Transient hypogammaglobulinaemia of infants in children with mastocytosis – strengthened indications for vaccinations

Renke¹,

Lange²,

Dawicka³

et al. 2016

cejoi

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Mastocytosis is a disease caused by the accumulation of mast cells (MC) in the skin and/or in other tissues. Both the cutaneous form of the disease (CM) predominating in children and the systemic form (SM) typical for adults are associated with the occurrence of MC mediator-related symptoms. The release of mediators can be induced by physical stimuli and/or specific triggering factors. The routine vaccination program performed in the majority of children in infancy can be considered as an additional factor provoking exacerbation of CM. Conscious of the important role of MC in the innate immunity, we have analysed retrospective data concerning the levels of immunoglobulins, an adaptive factor, in a group of 74 infants and toddlers with CM. The values corresponding to transient hypogammaglobulinaemia of infants (THI) were found in 8 (10.81%) of cases. Classification of the antibody deficiency was done according to the working definitions for clinical diagnosis of primary immunodeficiency of the European Society of Immunodeficiencies (ESID) Registry – version May 11, 2015. Following the retrospective data, the final diagnosis of THI cannot be made due to the young age of the study group. The percentage may significantly exceed the published incidence of THI, i.e. about 0.11%. The results of our study may indicate, importantly, a higher incidence of THI in childhood-onset mastocytosis than in the general paediatric population and strengthen indications for vaccinations. In conclusion, we suggest that THI may be considered as a new aspect of paediatric mastocytosis that requires further investigation.

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Primary Mast Cell Disorders in Children

Cited by 21 publications

References 44 publications

KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis

KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis

Targeted Treatment Options in Mastocytosis

Transient hypogammaglobulinaemia of infants in children with mastocytosis – strengthened indications for vaccinations

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