KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis Sigurd Broesby-Olsen, MD, Thomas Kristensen,

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Presentation transcript:

KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis Sigurd Broesby-Olsen, MD, Thomas Kristensen, PhD, Hanne Vestergaard, MD, PhD, Kim Brixen, MD, PhD, Michael Boe Møller, MD, DMSc, Carsten Bindslev-Jensen, MD, PhD, DMSc Journal of Allergy and Clinical Immunology Volume 132, Issue 3, Pages 723-728 (September 2013) DOI: 10.1016/j.jaci.2013.02.019 Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Mutation burden in BM and PB in the 48 patients studied demonstrating a highly significant mutual correlation (r = 0.9, P < .001). Median fraction of KIT D816V positive cells was 0.6 (0.01%-90%) in BM and 0.3 (0.003%-49%) in PB. Journal of Allergy and Clinical Immunology 2013 132, 723-728DOI: (10.1016/j.jaci.2013.02.019) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Mutation burden in PB in relation to duration of disease at diagnosis. No significant correlation is seen (r = 0.05, P = .13). A similar result was found for BM (r = 0.04, P = .16). Journal of Allergy and Clinical Immunology 2013 132, 723-728DOI: (10.1016/j.jaci.2013.02.019) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 3 Mutation burden in BM and PB in relation to symptoms, anaphylaxis, and osteoporosis. White bars represent PB and gray bars BM. A-D, Patients divided by severity of symptoms into 2 groups: none to mild or moderate to severe concerning (Fig 3, A) skin, (Fig 3, B) GI, (Fig 3, C) musculoskeletal, and (Fig 3, D) neuropsychiatric symptoms. E, Patients divided by occurrence of anaphylactic episodes or not. F, Patients divided by occurrence of osteoporosis/osteopenia or normal BMD. No significant differences in any of the parameters (Fig 3, A-F) can be observed (P > .05). Journal of Allergy and Clinical Immunology 2013 132, 723-728DOI: (10.1016/j.jaci.2013.02.019) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 4 Mutation burden in PB in relation to age-matched BMD (Z score). No significant correlation is seen (r = 0.10, P = .49). Similar result was found for BM (r = 0.02, P = .79). Journal of Allergy and Clinical Immunology 2013 132, 723-728DOI: (10.1016/j.jaci.2013.02.019) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions