IMEX   05356
INSTITUTO DE MEDICINA EXPERIMENTAL
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
MYD88 AND CXCR4 MUTATIONS IN PATIENTS WITH WALDENSTRÖM MACROGLOBULINEMIA AND IGM-MGUS
Autor/es:
GALVANO, CAMILA; CABRERA JUANA; STANGANELLI C; SLAVUTSKY, IRMA
Reunión:
Congreso; Reunión Anual de Sociedades de Biociencias; 2020
Resumen:
Waldenström Macroglobulinemia (WM) is a lymphoplasmacytic lymphoma with involvement of the bone marrow (BM) and the presence of a monoclonal IgM gammopathy. It is usually preceded by an IgM monoclonal gammopathy of undetermined significance (MGUS). WM and IgM-MGUS are associated to MYD88 gene mutations, particularly MYD88L265, and CXCR4 gene mutations, being CXCR4S338X the most common variant. These mutations are of importance in diagnosis, treatment selection and response evaluation. We have analyzed MYD88 and CXCR4 mutations in patients with WM and IgM-MGUS in order to established their frequency and distribution in our cohort. BM or peripheral blood genomic DNA was used; ASO-PCR and bidirectional Sanger sequencing were performed. The study was approved by the local Ethic Committee; all individuals provided their informed consent. Thirty-one patients with WM: 22 at diagnosis, 4 in relapse, 5 during post treatment control (13 males; mean age 67.5 years) and 12 with IgM-MGUS (5 males; mean age 76.9 years) were evaluated. The activating mutation MYD88L265P was found in 81.8% WM patients at diagnosis, 100% at relapse, 0% in post treatment control and in 41.6% IgM-MGUS. CXCR4 mutations were found in 2/22 (9%) cases with WM: one patient showed CXCR4S338 C>G transversion at nucleotide 1013 and the other CXCR4R334X C>T, c.1000C