Artículos de revistas
Familial Systemic Mastocytosis With Germline Kit K509i Mutation Is Sensitive To Treatment With Imatinib, Dasatinib And Pkc412.
Registro en:
Leukemia Research. v. 38, n. 10, p. 1245-51, 2014-Oct.
1873-5835
10.1016/j.leukres.2014.07.010
25139846
Autor
de Melo Campos, Paula
Machado-Neto, João A
Scopim-Ribeiro, Renata
Visconte, Valeria
Tabarroki, Ali
Duarte, Adriana S S
Barra, Flávia F C
Vassalo, José
Rogers, Heesun J
Lorand-Metze, Irene
Tiu, Ramon V
Costa, Fernando F
Olalla Saad, Sara T
Traina, Fabiola
Institución
Resumen
Mastocytosis are myeloproliferative neoplasms commonly related to gain-of-function mutations involving the tyrosine kinase domain of KIT. We herein report a case of familial systemic mastocytosis with the rare KIT K509I germ line mutation affecting two family members: mother and daughter. In vitro treatment with imatinib, dasatinib and PKC412 reduced cell viability of primary mast cells harboring KIT K509I mutation. However, imatinib was more effective in inducing apoptosis of neoplastic mast cells. Both patients with familial systemic mastocytosis had remarkable hematological and skin improvement after three months of imatinib treatment, suggesting that it may be an effective front line therapy for patients harboring KIT K509I mutation. 38 1245-51