Detection of the KIT D816V mutation in peripheral blood of systemic mastocytosis: diagnostic implications

Recent studies have found the KIT D816V mutation in peripheral blood of virtually all adult systemic mastocytosis patients once highly sensitive PCR techniques were used; thus, detection of the KIT D816V mutation in peripheral blood has been proposed to be included in the diagnostic work-up of syste...

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Bibliographic Details
Published in:Modern pathology 2015-08, Vol.28 (8), p.1138-1149
Main Authors: Jara-Acevedo, Maria, Teodosio, Cristina, Sanchez-Muñoz, Laura, Álvarez-Twose, Ivan, Mayado, Andrea, Caldas, Carolina, Matito, Almudena, Morgado, José M, Muñoz-González, Javier I, Escribano, Luis, Garcia-Montero, Andrés C, Orfao, Alberto
Format: Article
Language:English
Subjects:
38/22
38/77
45
631/67/1990
692/308/2056
Bone Marrow Cells - pathology
Bone Marrow Examination
Cell Lineage
DNA Mutational Analysis - methods
Exons
Genetic Markers
Genetic Predisposition to Disease
Hematopoiesis - genetics
Humans
Laboratory Medicine
Mast Cells - pathology
Mastocytosis, Systemic - blood
Mastocytosis, Systemic - diagnosis
Mastocytosis, Systemic - genetics
Medicine
Medicine & Public Health
Mutation
original-article
Pathology
Phenotype
Polymerase Chain Reaction - methods
Predictive Value of Tests
Proto-Oncogene Proteins c-kit - blood
Proto-Oncogene Proteins c-kit - genetics
Severity of Illness Index
Spain
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Summary:Recent studies have found the KIT D816V mutation in peripheral blood of virtually all adult systemic mastocytosis patients once highly sensitive PCR techniques were used; thus, detection of the KIT D816V mutation in peripheral blood has been proposed to be included in the diagnostic work-up of systemic mastocytosis algorithms. However, the precise frequency of the mutation, the biological significance of peripheral blood-mutated cells and their potential association with involvement of bone marrow hematopoietic cells other than mast cells still remain to be investigated. Here, we determined the frequency of peripheral blood involvement by the KIT D816V mutation, as assessed by two highly sensitive PCR methods, and investigated its relationship with multilineage involvement of bone marrow hematopoiesis. Overall, our results confirmed the presence of the KIT D816V mutation in peripheral blood of most systemic mastocytosis cases (161/190; 85%)—with an increasing frequency from indolent systemic mastocytosis without skin lesions (29/44; 66%) to indolent systemic mastocytosis with skin involvement (124/135; 92%), and more aggressive disease subtypes (11/11; 100%)—as assessed by the allele-specific oligonucleotide-qPCR method, which was more sensitive ( P
ISSN:0893-3952
1530-0285
DOI:10.1038/modpathol.2015.72