Review papers<br>The role of KIT gene mutations in pathogenesis of pediatric mastocytosis

Joanna Dawicka; Magdalena Lange; Bartosz Wasąg; Bogusław Nedoszytko; Aleksandra Wilkowska; Roman Nowicki

doi:10.5114/dr.2015.49199

eISSN: 2084-9893
ISSN: 0033-2526

Dermatology Review/Przegląd Dermatologiczny

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1/2015
vol. 102

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abstract:

Review papers
The role of KIT gene mutations in pathogenesis of pediatric mastocytosis

Joanna Dawicka

,

Magdalena Lange

,

Bartosz Wasąg

,

Bogusław Nedoszytko

,

Aleksandra Wilkowska

,

Roman Nowicki

Przegl Dermatol 2015, 102, 37–44

DOI: https://doi.org/10.5114/dr.2015.49199

Online publish date: 2015/03/05

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Mastocytosis is characterized by excessive proliferation and accumulation of mast cells in skin and/or other organs. Two forms of the disease, cutaneous and systemic mastocytosis, differ significantly in symptomatology and clinical course. KIT mutations play an important role in the pathogenesis of the disease. The presence of p.D816V KIT mutation was detected in the vast majority of adults with systemic mastocytosis. The role of KIT mutations in childhood-onset mastocytosis remains a matter of discussion. More recent studies have shown that cutaneous mastocytosis, which is the most common clinical manifestation of the disease in children, has a genetic background. In contrast to adults, different types of KIT mutations have been described in pediatric and familial mastocytosis. The understanding of the molecular mechanisms in mastocytosis enables targeted therapy using tyrosine kinase inhibitors.

keywords:

Review papersThe role of KIT gene mutations in pathogenesis of pediatric mastocytosis

Joanna Dawicka , Magdalena Lange , Bartosz Wasąg , Bogusław Nedoszytko , Aleksandra Wilkowska , Roman Nowicki

mastocytosis, proto-oncogene proteins c-kit, child

Review papers
The role of KIT gene mutations in pathogenesis of pediatric mastocytosis

Joanna Dawicka

,

Magdalena Lange

,

Bartosz Wasąg

,

Bogusław Nedoszytko

,

Aleksandra Wilkowska

,

Roman Nowicki