Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis

American Journal of Hematology

Volumn 89, Issue 5, 2014, Pages 493-498

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

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

TRYPTASE;

ADULT; ARTICLE; BLOOD ANALYSIS; BLOOD LEVEL; CASE STUDY; CONTROLLED STUDY; DIAGNOSTIC TEST; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; GENE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; KIT D816V GENE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SYSTEMIC MASTOCYTOSIS;

ADULT; BONE MARROW CELLS; CASE-CONTROL STUDIES; DIAGNOSTIC TESTS, ROUTINE; DNA MUTATIONAL ANALYSIS; HUMANS; MASTOCYTOSIS; MUTATION; PROTO-ONCOGENE PROTEINS C-KIT; TRYPTASES;

EID: 84898428255     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23672     Document Type: Article

References (26)

1. Horny HP, Metcalfe DD, Bennett JM, et al. Mastocytosis. In: Swerdlow SH, Campo E, Harris NL, et al., editors. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th ed. Lyon, France: International Agency for Research and Cancer (IARC); 2008. pp 54-63.
2. Broesby-Olsen S, Kristensen T, Vestergaard H, et al. KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis. J Allergy Clin Immunol 2013;132:723-728.
3. Sokol H, Georgin-Lavialle S, Canioni D, et al. Gastrointestinal manifestations in mastocytosis: A study of 83 patients. J Allergy Clin Immunol 2013;132:866-873.
4. Pardanani A. Systemic mastocytosis in adults: 2013 Update on diagnosis, risk stratification, and management. Am J Hematol 2013;88:612-624.
5. Valent P, Akin C, Escribano L, et al. Standards and standardization in mastocytosis: Consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest 2007;37:435-453.
6. Sanchez-Munoz L, Alvarez-Twose I, Garcia-Montero AC, et al. Evaluation of the WHO criteria for the classification of patients with mastocytosis. Mod Pathol 2011;24:1157-1168.
7. Garcia-Montero AC, Jara-Acevedo M, Teodosio C, et al. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: A prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood 2006;108:2366-2372.
8. Lim KH, Tefferi A, Lasho TL, et al. Systemic mastocytosis in 342 consecutive adults: Survival studies and prognostic factors. Blood 2009;113:5727-5736.
9. Nagata H, Worobec AS, Oh CK, et al. 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 USA 1995;92:10560-10564.
10. Akin C, Metcalfe DD. The biology of Kit in disease and the application of pharmacogenetics. J Allergy Clin Immunol 2004;114:13-19.
11. Metcalfe DD. Mast cells and mastocytosis. Blood 2008;112:946-956.
12. Pardanani A. How I treat patients with indolent and smoldering mastocytosis (rare conditions but difficult to manage). Blood 2013;121:3085-3094.
13. Kristensen T, Vestergaard H, Moller MB. 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 2011;13:180-188.
14. Valent P, Aberer E, Beham-Schmid C, et al. Guidelines and diagnostic algorithm for patients with suspected systemic mastocytosis: A proposal of the Austrian competence network (AUCNM). Am J Blood Res 2013;3:174-180.
15. Pardanani A, Chen D, Abdelrahman RA, et al. Clonal mast cell disease not meeting WHO criteria for diagnosis of mastocytosis: Clinicopathologic features and comparison with indolent mastocytosis. Leukemia 2013;27:2091-2094.
16. Akin C, Valent P, Metcalfe DD. Mast cell activation syndrome: Proposed diagnostic criteria. J Allergy Clin Immunol 2010;126:1099-1104.
17. Kristensen T, Broesby-Olsen S, Vestergaard H, et al. Serum tryptase correlates with the KIT D816V mutation burden in adults with indolent systemic mastocytosis. Eur J Haematol 2013;91:106-111.
18. Gabert J, Beillard E, van der Velden VHJ, et al. Standardization and quality control studies of 'real-time' quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia-A Europe Against Cancer Program. Leukemia 2003;17:2318-2357.
19. van der Velden VH, Hochhaus A, Cazzaniga G, et al. Detection of minimal residual disease in hematologic malignancies by real-time quantitative PCR: Principles, approaches, and laboratory aspects. Leukemia 2003;17:1013-1034.
20. Valent P, Horny HP, Escribano L, et al. Diagnostic criteria and classification of mastocytosis: A consensus proposal. Leuk Res 2001;25:603-625.
21. Worobec AS, Semere T, Nagata H, Metcalfe DD. Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis. Cancer 1998;83:2120-2129.
22. Kristensen T, Preiss B, Broesby-Olsen S, et al. Systemic mastocytosis is uncommon in KIT D816V mutation positive core-binding factor acute myeloid leukemia. Leuk Lymphoma 2012;53:1338-1344.
23. Toffalini F, Demoulin JB. New insights into the mechanisms of hematopoietic cell transformation by activated receptor tyrosine kinases. Blood 2010;116:2429-2437.
24. Valentini CG, Rondoni M, Pogliani EM, et al. Mast cell leukemia: A report of ten cases. Ann Hematol 2008;87:505-508.
25. Bodemer C, Hermine O, Palmerini F, et al. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol 2010;130:804-815.
26. Sperr WR, El-Samahi A, Kundi M, et al. Elevated tryptase levels selectively cluster in myeloid neoplasms: A novel diagnostic approach and screen marker in clinical haematology. Eur J Clin Invest 2009;39:914-923.