title: Mutation status and immunoglobulin gene rearrangements in patients from northwest and central region of Spain with chronic lymphocytic leukemia.
abstract: The aim of this study was to investigate the frequency and mutation status of the immunoglobulin heavy variable chain (IGHV) in a cohort of 224 patients from northwest and central region of Spain diagnosed with chronic lymphocytic leukemia (CLL), and to correlate it with cytogenetic abnormalities, overall survival (OS) and time to first treatment (TTFT). 125 patients had mutated IGHV, while 99 had unmutated IGHV. The most frequently used IGHV family was IGHV3, followed by IGHV1 and IGHV4. The regions IGHV3-30, IGHV1-69, IGHV3-23, and IGHV4-34 were the most commonly used. Only 3.1% of the patients belonged to the subfamily IGHV3-21 and we failed to demonstrate a worse clinical outcome in this subgroup. The IGHV4 family appeared more frequently with mutated pattern, similar to IGHV3-23 and IGHV3-74. By contrast, IGHV1-69 was expressed at a higher frequency in unmutated CLL patients. All the cases from IGHV3-11 and almost all from IGHV5-51 subfamily belonged to the group of unmutated CLL.
authors.affiliation: Servicio de Hematología, Departamento de Medicina, Hospital Universitario Infanta Leonor, Calle Gran Vía del Este 80, 28031 Madrid, Spain.
authors.forename: I
authors.initials: I
authors.lastname: González-Gascón Y Marín
authors.affiliation: Servicio de Hematología, Departamento de Medicina, Hospital Universitario Infanta Leonor, Calle Gran Vía del Este 80, 28031 Madrid, Spain ; Universidad Complutense de Madrid, Avenida Séneca 2, 28040 Madrid, Spain.
authors.forename: J A
authors.initials: JA
authors.lastname: Hernández
authors.affiliation: Servicio de Hematología, IBSAL-Hospital Universitario de Salamanca, Paseo de San Vicente 58-182, 37007 Salamanca, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Martín
authors.affiliation: Servicio de Hematología, IBSAL-Hospital Universitario de Salamanca, Paseo de San Vicente 58-182, 37007 Salamanca, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Alcoceba
authors.affiliation: Servicio de Hematología, IBSAL-Hospital Universitario de Salamanca, Paseo de San Vicente 58-182, 37007 Salamanca, Spain.
authors.forename: M E
authors.initials: ME
authors.lastname: Sarasquete
authors.affiliation: Centro de Investigación del Cáncer-IBMCC, Universidad de Salamanca (USAL-CSIC), Calle Zacarías González 2, 37007 Salamanca, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Rodríguez-Vicente
authors.affiliation: Servicio de Hematología, Departamento de Medicina, Hospital Universitario Infanta Leonor, Calle Gran Vía del Este 80, 28031 Madrid, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Heras
authors.affiliation: Servicio de Hematología, Hospital Virgen Blanca, Calle Altos de Nava, s/n, 24071 León, Spain.
authors.forename: N
authors.initials: N
authors.lastname: de Las Heras
authors.affiliation: Servicio de Hematología, Hospital General de Segovia, Calle Miguel Servet, s/n, 4002 Segovia, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Fisac
authors.affiliation: Servicio de Hematología, Hospital Clínico Universitario de Valladolid, Avenida Ramón y Cajal 3, 47005 Valladolid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: García de Coca
authors.affiliation: Servicio de Hematología, Hospital del Río Hortega, Calle Dulzaina 2, 47012 Valladolid, Spain.
authors.forename: I
authors.initials: I
authors.lastname: de la Fuente
authors.affiliation: Centro de Investigación del Cáncer-IBMCC, Universidad de Salamanca (USAL-CSIC), Calle Zacarías González 2, 37007 Salamanca, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Hernández-Sánchez
authors.affiliation: Servicio de Hematología, Hospital Nuestra Señora de Sonsoles, Plaza de Santiago 1, 05002 Ávila, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Recio
authors.affiliation: Servicio de Hematología, Hospital El Bierzo, Calle Médicos sin Fronteras 7, 24411 Ponferrada, León, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Galende
authors.affiliation: Servicio de Hematología, Hospital Virgen del Puerto, Paraje Valcorchero, 10600 Plasencia, Cáceres, Spain.
authors.forename: G
authors.initials: G
authors.lastname: Martín-Núñez
authors.affiliation: Servicio de Hematología, Hospital Río Carrión, Avenida Donantes de Sangre, s/n, 34005 Palencia, Spain.
authors.forename: J M
authors.initials: JM
authors.lastname: Alonso
authors.affiliation: Servicio de Hematología, IBSAL-Hospital Universitario de Salamanca, Paseo de San Vicente 58-182, 37007 Salamanca, Spain ; Centro de Investigación del Cáncer-IBMCC, Universidad de Salamanca (USAL-CSIC), Calle Zacarías González 2, 37007 Salamanca, Spain.
authors.forename: J M
authors.initials: JM
authors.lastname: Hernández-Rivas
authors.affiliation: Servicio de Hematología, IBSAL-Hospital Universitario de Salamanca, Paseo de San Vicente 58-182, 37007 Salamanca, Spain.
authors.forename: M
authors.initials: M
authors.lastname: González
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D050438:Genes, Immunoglobulin Heavy Chain / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D015994:Incidence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D015995:Prevalence; D012307:Risk Factors; D013030:Spain / Q000453:epidemiology; D062211:Spatio-Temporal Analysis
chemical_list: D005819:Genetic Markers