title: A new genetic abnormality leading to TP53 gene deletion in chronic lymphocytic leukaemia.
abstract: The analysis of chromosomal abnormalities provides significant prognostic information in patients with chronic lymphocytic leukaemia (CLL), a disease with a highly heterogeneous clinical course. Chromosomal abnormalities commonly found are trisomy 12, del(13)(q14), del(11)(q22-23), del(17)(p13) and del(6)(q21). Translocations are present in some patients and affect regions recurrently involved in CLL. This report describes the clinical and pathological characteristics of four CLL patients showing a new recurrent chromosomal abnormality dic(8;17)(p11;p11), that implied loss of the TP53 gene in all cases. In addition, TP53 gene was mutated in three out of four patients. Mechanically, Low Copy Repeats (LCR) in 17p12 and 8p11 may explain the origin of the translocation by non-allelic homologous recombination (NAHR). Isolated dic(8;17)(p11;p11) in patients with mutated IGHV genes status may not have the same prognostic impact as other mutations or deletions affecting the TP53 gene. Larger series are needed to better evaluate the clinical impact of this chromosomal aberration during the course of the disease.
authors.affiliation: Fundació Clínic per a la Recerca Biomèdica, Barcelona, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: López
authors.forename: Tycho
authors.initials: T
authors.lastname: Baumann
authors.forename: Dolors
authors.initials: D
authors.lastname: Costa
authors.forename: Mónica
authors.initials: M
authors.lastname: López-Guerra
authors.forename: Alba
authors.initials: A
authors.lastname: Navarro
authors.forename: Cándida
authors.initials: C
authors.lastname: Gómez
authors.forename: Amparo
authors.initials: A
authors.lastname: Arias
authors.forename: Concha
authors.initials: C
authors.lastname: Muñoz
authors.forename: María
authors.initials: M
authors.lastname: Rozman
authors.forename: Neus
authors.initials: N
authors.lastname: Villamor
authors.forename: Dolors
authors.initials: D
authors.lastname: Colomer
authors.forename: Emili
authors.initials: E
authors.lastname: Montserrat
authors.forename: Elías
authors.initials: E
authors.lastname: Campo
authors.forename: Ana
authors.initials: A
authors.lastname: Carrió
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D017353:Gene Deletion; D050438:Genes, Immunoglobulin Heavy Chain / Q000235:genetics; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011379:Prognosis; D014178:Translocation, Genetic