KIT Mutations

Furitsu T, Tsujimura T, Tono T, Ikeda H, Kitayama H, Koshimizu U, Sugahara H, Butterfield JH, Ashman LK, Kanayama Y, et al. Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. J Clin Invest. 1993;92:1736-1744.

Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, Metcalfe DD. 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.

Longley BJ, Tyrrell L, Lu SZ, Ma YS, Langley K, Ding TG, Duffy T, Jacobs P, Tang LH, Modlin I. Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. Nat Genet. 1996;12:312-314.

Pignon JM, Giraudiers S, Duquesnoy P, Jouault H, Imbert M, Vainchenker W, Vernant JP, Tuliez M. A new c-kit mutation in a case of aggressive mast cell disease. Br J Haematol 1997;96:374-376.

Sperr WR, Walchshofer S, Horny HP, Födinger M, Simonitsch I, Fritsche-Polanz R, Schwarzinger I, Tschachler E, Sillaber C, Hagen W, Geissler K, Chott A, Lechner K, Valent P. Systemic mastocytosis associated with acute myeloid leukaemia: report of two cases and detection of the c-kit mutation Asp-816 to Val. Br J Haematol. 1998;103:740-749.

Buttner C, Henz BM, Welker P, Sepp NT, Grabbe J. Identification of activating c-kit mutations in adult-, but not in childhood-onset indolent mastocytosis: a possible explanation for divergent clinical behavior. J Invest Dermatol. 1998;111:1227-1231.

Longley BJ Jr, Metcalfe DD, Tharp M, Wang X, Tyrrell L, Lu SZ, Heitjan D, Ma Y. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci (USA). 1999;96:1609-1614.

Sotlar K, Marafioti T, Griesser H, Theil J, Aepinus C, Jaussi R, Stein H, Valent P, Horny HP. Detection of c-kit mutation Asp 816 to Val in microdissected bone marrow infiltrates in a case of systemic mastocytosis associated with chronic myelomonocytic leukaemia. Mol Pathol. 2000;53:188-193.

Longley BJ, Reguera MJ, Ma Y. Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy. Leuk Res. 2001;25:571-576.

Fritsche-Polanz R, Jordan JH, Feix A, Sperr WR, Sunder-Plassmann G, Valent P, Födinger M. Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. Br J Haematol. 2001;113:357-364.

Chian R, Young S, Danilkovitch-Miagkova A, Rönnstrand L, Leonard E, Ferrao P, Ashman L, Linnekin D. Phosphatidylinositol 3 kinase contributes to the transformation of hematopoietic cells by the D816V c-Kit mutant. Blood. 2001;98:1365-1373.

Feger F, Ribadeau Dumas A, Leriche L, Valent P, Arock M. Kit and c-kit mutations in mastocytosis: a short overview with special reference to novel molecular and diagnostic concepts. Int Arch Allergy Immunol. 2002;127:110-114.

Sotlar K, Escribano L, Landt O, Möhrle S, Herrero S, Torrelo A, Lass U, Horny HP, Bültmann B. One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes. Am J Pathol. 2003;162:737-746.

Akin C, Fumo G, Yavuz AS, Lipsky PE, Neckers L, Metcalfe DD. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. Blood. 2004;103:3222-3225.

Zappulla JP, Dubreuil P, Desbois S, Létard S, Hamouda NB, Daëron M, Delsol G, Arock M, Liblau RS. Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation. J Exp Med. 2005;202:1635-1641.

Kocabas CN, Yavuz AS, Lipsky PE, Metcalfe DD, Akin C. Analysis of the lineage relationship between mast cells and basophils using the c-kit D816V mutation as a biologic signature. J Allergy Clin Immunol. 2005;115:1155-1161.

Garcia-Montero AC, Jara-Acevedo M, Teodosio C, Sanchez ML, Nunez R, Prados A, Aldanondo I, Sanchez L, Dominguez M, Botana LM, Sanchez-Jimenez F, Sotlar K, Almeida J, Escribano L, Orfao A. 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.

Zhang LY, Smith ML, Schultheis B, Fitzgibbon J, Lister TA, Melo JV, Cross NC, Cavenagh JD. A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. Leuk Res. 2006;30:373-378.

Gotlib J. KIT mutations in mastocytosis and their potential as therapeutic targets. Immunol Allergy Clin North Am. 2006;26:575-592.

Corless CL, Harrell P, Lacouture M, Bainbridge T, Le C, Gatter K, White C, Granter S, Heinrich MC. Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia. J Mol Diagn. 2006;8:604-612.

Tan A, Westerman D, McArthur GA, Lynch K, Waring P, Dobrovic A.  Sensitive detection of KIT D816V in patients with mastocytosis. Clin  Chem. 2006;52:2250-2257.

Maric I, Robyn J, Metcalfe DD, Fay MP, Carter M, Wilson T, Fu W, Stoddard J, Scott L, Hartsell M, Kirshenbaum A, Akin C, Nutman TB, Noel P, Klion AD. KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entities. J Allergy Clin Immunol. 2007;120:680-687.

Kähler C, Didlaukat S, Feller AC, Merz H. Sensitive and reliable detection of Kit point mutation Asp 816 to Val in pathological material. Diagn Pathol. 2007;2:37.

Orfao A, Garcia-Montero AC, Sanchez L, Escribano L; REMA. Recent advances in the understanding of mastocytosis: the role of KIT mutations. Br J Haematol. 2007;138:12-30.

Mayerhofer M, Gleixner KV, Hoelbl A, Florian S, Hoermann G, Aichberger KJ, Bilban M, Esterbauer H, Krauth MT, Sperr WR, Longley JB, Kralovics R, Moriggl R, Zappulla J, Liblau RS, Schwarzinger I, Sexl V, Sillaber C, Valent P. Unique effects of KIT D816V in BaF3 cells: induction of cluster formation, histamine synthesis, and early mast cell differentiation antigens. J Immunol. 2008;180:5466-5476.

Harir N, Boudot C, Friedbichler K, Sonneck K, Kondo R, Martin-Lannerée S, Kenner L, Kerenyi M, Yahiaoui S, Gouilleux-Gruart V, Gondry J, Bénit L, Dusanter-Fourt I, Lassoued K, Valent P, Moriggl R, Gouilleux F. Oncogenic Kit controls neoplastic mast cell growth through a Stat5/PI3-kinase signaling cascade. Blood. 2008;112:2463-2473.

Foster R, Byrnes E, Meldrum C, Griffith R, Ross G, Upjohn E, Braue A, Scott R, Varigos G, Ferrao P, Ashman LK. Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT. Br J Dermatol. 2008;159:1160-1169.

Schumacher JA, Elenitoba-Johnson KS, Lim MS. Detection of the c-kit D816V mutation in systemic mastocytosis by allele-specific PCR. J Clin Pathol. 2008;61:109-114.

Ozer O, Zhao YD, Ostler KR, Akin C, Anastasi J, Vardiman JW, Godley LA. The identification and characterisation of novel KIT transcripts in aggressive mast cell malignancies and normal CD34+ cells. Leuk Lymphoma. 2008;49:1567-1577.

Pedersen M, Rönnstrand L, Sun J. The c-Kit/D816V mutation eliminates the differences in signal transduction and biological responses between two isoforms of c-Kit. Cell Signal. 2009;21:413-418.


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