KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis

Journal of Allergy and Clinical Immunology

Volumn 132, Issue 3, 2013, Pages 723-728

  Broesby Olsen, Sigurd ^a,b   Kristensen, Thomas ^a   Vestergaard, Hanne ^a,b   Brixen, Kim ^a,b   Møller, Michael Boe ^a,b   Bindslev Jensen, Carsten ^a,b  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

allele burden; anaphylaxis; Indolent systemic mastocytosis; KIT D816V; mast cell; mutation burden; osteoporosis

Indexed keywords

ANTIHISTAMINIC AGENT; TRYPTASE;

ABDOMINAL PAIN; ADOLESCENT; ADULT; ANAPHYLAXIS; ARTICLE; BLOOD; BONE DENSITY; BONE MARROW; BONE PAIN; CHILD; CONTROLLED STUDY; DEPRESSION; DIARRHEA; DISEASE DURATION; DISEASE SEVERITY; DUAL ENERGY X RAY ABSORPTIOMETRY; ENZYME BLOOD LEVEL; FATIGUE; FEMALE; FOLLOW UP; FRAGILITY FRACTURE; GASTROINTESTINAL SYMPTOM; GENE MUTATION; HUMAN; INDOLENT SYSTEMIC MASTOCYTOSIS; INTERVIEW; LOW DRUG DOSE; MAJOR CLINICAL STUDY; MALE; MEDIATOR RELEASE; MEDICAL RECORD; MOOD; MUSCULOSKELETAL PAIN; MUTATIONAL ANALYSIS; ONSET AGE; OSTEOPENIA; OSTEOPOROSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PRURITUS; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SKIN DEFECT; SKIN MANIFESTATION; SYSTEMIC MASTOCYTOSIS; URTICARIA; URTICARIA PIGMENTOSA;

ALLELE BURDEN; ANAPHYLAXIS; BM; BMD; BONE MARROW; BONE MINERAL DENSITY; DUAL-ENERGY X-RAY ABSORPTIOMETRY; DXA; GASTROINTESTINAL; GI; INDOLENT SYSTEMIC MASTOCYTOSIS; ISM; KIT D816V; MAST CELL; MAST CELLS; MCS; MUTATION BURDEN; OSTEOPOROSIS; PB; PERIPHERAL BLOOD; SM; SYSTEMIC MASTOCYTOSIS;

ADULT; AGED; ANAPHYLAXIS; BONE MARROW CELLS; FEMALE; HUMANS; MALE; MASTOCYTOSIS, SYSTEMIC; MIDDLE AGED; MUTATION; OSTEOPOROSIS; PROTO-ONCOGENE PROTEINS C-KIT; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84883214095     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.02.019     Document Type: Article

References (23)

1. D.D. Metcalfe Mast cells and mastocytosis Blood 112 2008 946 956
2. H. Nagata, A.S. Worobec, C.K. Oh, B.A. Chowdhury, S. Tannenbaum, and Y. Suzuki Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder Proc Natl Acad Sci U S A 92 1995 10560 10564
3. B.J. Longley, L. Tyrrell, S.Z. Lu, Y.S. Ma, K. Langley, and T.G. Ding Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm Nat Genet 12 1996 312 314
4. C. Akin Clonality and molecular pathogenesis of mastocytosis Acta Haematol 114 2005 61 69
5. H.P. Horny, D.D. Metcalfe, and J.M. Bennett Mastocytosis S.H. Swerdlow, E. Campo, N.L. Harris, WHO classification of tumours of hematopoietic and lymphoid tissues 4th ed. 2008 International Agency for Research and Cancer (IARC) Lyon, France 54 63
6. P. Valent, C. Akin, L. Escribano, M. Fodinger, K. Hartmann, and K. Brockow Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria Eur J Clin Invest 37 2007 435 453
7. A. Pardanani, and A. Tefferi Systemic mastocytosis in adults: a review on prognosis and treatment based on 342 Mayo Clinic patients and current literature Curr Opin Hematol 17 2010 125 132
8. L. Escribano, I. Alvarez-Twose, L. Sanchez-Munoz, A. Garcia-Montero, R. Nunez, and J. Almeida Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients J Allergy Clin Immunol 124 2009 514 521
9. K. Brockow, C. Jofer, H. Behrendt, and J. Ring Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients Allergy 63 2008 226 232
10. D. Gonzalez de Olano, B. de la Hoz Caballer, R. Nunez Lopez, L. Sanchez Munoz, M. Cuevas Agustin, and M.C. Dieguez Prevalence of allergy and anaphylactic symptoms in 210 adult and pediatric patients with mastocytosis in Spain: a study of the Spanish network on mastocytosis (REMA) Clin Exp Allergy 37 2007 1547 1555
11. M. Rossini, R. Zanotti, P. Bonadonna, A. Artuso, B. Caruso, and D. Schena Bone mineral density, bone turnover markers and fractures in patients with indolent systemic mastocytosis Bone 49 2011 880 885
12. E. van der Veer, W. van der Goot, J.G. de Monchy, H.C. Kluin-Nelemans, and J.J. van Doormaal High prevalence of fractures and osteoporosis in patients with indolent systemic mastocytosis Allergy 67 2012 431 438
13. T. Kristensen, H. Vestergaard, and M.B. Moller Improved detection of the KIT D816V mutation in patients with systemic mastocytosis using a quantitative and highly sensitive real-time qPCR assay J Mol Diagn 13 2011 180 188
14. T. Kristensen, S. Broesby-Olsen, H. Vestergaard, C. Bindslev-Jensen, and M.B. Moller Mastocytosis Centre Odense University H. Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis Eur J Haematol 89 2012 42 46
15. W. Zhao, C.E. Bueso-Ramos, S. Verstovsek, B.A. Barkoh, A.A. Khitamy, and D. Jones Quantitative profiling of codon 816 KIT mutations can aid in the classification of systemic mast cell disease Leukemia 21 2007 1574 1576
16. F. Siebenhaar, W. Kuhn, T. Zuberbier, and M. Maurer Successful treatment of cutaneous mastocytosis and Meniere disease with anti-IgE therapy J Allergy Clin Immunol 120 2007 213 215
17. H.A. Sampson, A. Munoz-Furlong, R.L. Campbell, N.F. Adkinson Jr., S.A. Bock, and A. Branum Second symposium on the definition and management of anaphylaxis: summary report-Second National Institute of Allergy and Infectious Disease/Food Allergy and Anaphylaxis Network symposium J Allergy Clin Immunol 117 2006 391 397
18. S.G. Brown Clinical features and severity grading of anaphylaxis J Allergy Clin Immunol 114 2004 371 376
19. J. Hanson Standardization of femur BMD J Bone Miner Res 12 1997 1316 1317
20. S. Iwaki, J. Spicka, C. Tkaczyk, B.M. Jensen, Y. Furumoto, and N. Charles Kit- and Fc epsilonRI-induced differential phosphorylation of the transmembrane adaptor molecule NTAL/LAB/LAT2 allows flexibility in its scaffolding function in mast cells Cell Signal 20 2008 195 205
21. C. Akin, P. Valent, and D.D. Metcalfe Mast cell activation syndrome: Proposed diagnostic criteria J Allergy Clin Immunol 126 2010 1099 1104.e4
22. A.S. Worobec, T. Semere, H. Nagata, and D.D. Metcalfe Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis Cancer 83 1998 2120 2129
23. N.M. Kushnir-Sukhov, E. Brittain, J.C. Reynolds, C. Akin, and D.D. Metcalfe Elevated tryptase levels are associated with greater bone density in a cohort of patients with mastocytosis Int Arch Allergy Immunol 139 2006 265 270