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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
KIT mutation analysis in mast cell neoplasms: recommendations of the European competence network on mastocytosis
Although acquired mutations in KIT are commonly detected in various categories of mastocytosis, the methodologies applied to detect and quantify the mutant type and allele burden in cells and various tissues are poorly defined. We here propose a consensus on methodologies used to detect KIT mutations in patients with mastocytosis at diagnosis and during 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 from most patients with systemic mastocytosis (SM) which is a major step forward in screening and SM diagnosis. In addition, the KIT D816V allele burden can be followed quantitatively during the natural course or during therapy. 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 diagnosis of SM, and help to avoid unnecessary referrals
0887-6924
1223-1232
Arock, M.
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Sotlar, K.
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Akin, C.
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Broesby-Olsen, S.
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Hoermann, G.
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Escribano, L.
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Kristensen, T.K.
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Kluin-Nelemans, H.C.
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Hermine, O.
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Dubreuil, P.
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Sperr, W.R.
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Hartmann, K..
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Gotlib, J.
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Cross, N.C.P.
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Haferlach, T.
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Garcia-Montero, A.
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Orfao, A.
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Schwaab, J.
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Triggiani, M.
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Horny, H.-P.
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Metcalfe, D.D.
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Reiter, A.
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Valent, P.
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Arock, M.
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Sotlar, K.
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Akin, C.
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Broesby-Olsen, S.
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Hoermann, G.
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Escribano, L.
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Kristensen, T.K.
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Kluin-Nelemans, H.C.
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Hermine, O.
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Dubreuil, P.
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Sperr, W.R.
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Hartmann, K..
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Gotlib, J.
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Cross, N.C.P.
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Haferlach, T.
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Garcia-Montero, A.
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Orfao, A.
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Schwaab, J.
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Triggiani, M.
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Horny, H.-P.
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Metcalfe, D.D.
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Reiter, A.
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Valent, P.
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Arock, M., Sotlar, K., Akin, C., Broesby-Olsen, S., Hoermann, G., Escribano, L., Kristensen, T.K., Kluin-Nelemans, H.C., Hermine, O., Dubreuil, P., Sperr, W.R., Hartmann, K.., Gotlib, J., Cross, N.C.P., Haferlach, T., Garcia-Montero, A., Orfao, A., Schwaab, J., Triggiani, M., Horny, H.-P., Metcalfe, D.D., Reiter, A. and Valent, P. (2015) KIT mutation analysis in mast cell neoplasms: recommendations of the European competence network on mastocytosis. Leukemia, 29 (6), 1223-1232. (doi:10.1038/leu.2015.24). (PMID:25650093)

Record type: Article

Abstract

Although acquired mutations in KIT are commonly detected in various categories of mastocytosis, the methodologies applied to detect and quantify the mutant type and allele burden in cells and various tissues are poorly defined. We here propose a consensus on methodologies used to detect KIT mutations in patients with mastocytosis at diagnosis and during 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 from most patients with systemic mastocytosis (SM) which is a major step forward in screening and SM diagnosis. In addition, the KIT D816V allele burden can be followed quantitatively during the natural course or during therapy. 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 diagnosis of SM, and help to avoid unnecessary referrals

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leu201524a.pdf - Accepted Manuscript
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Accepted/In Press date: 4 February 2015
Published date: June 2015
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 374138
URI: https://eprints.soton.ac.uk/id/eprint/374138
ISSN: 0887-6924
PURE UUID: 1b5dda1c-01da-4d8c-8e16-3cae43994107
ORCID for N.C.P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 06 Feb 2015 12:15
Last modified: 06 Jun 2018 12:49

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Contributors

Author: M. Arock
Author: K. Sotlar
Author: C. Akin
Author: S. Broesby-Olsen
Author: G. Hoermann
Author: L. Escribano
Author: T.K. Kristensen
Author: H.C. Kluin-Nelemans
Author: O. Hermine
Author: P. Dubreuil
Author: W.R. Sperr
Author: K.. Hartmann
Author: J. Gotlib
Author: N.C.P. Cross ORCID iD
Author: T. Haferlach
Author: A. Garcia-Montero
Author: A. Orfao
Author: J. Schwaab
Author: M. Triggiani
Author: H.-P. Horny
Author: D.D. Metcalfe
Author: A. Reiter
Author: P. Valent

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