title: Contribution of MLPA to routine diagnostic testing of recurrent genomic aberrations in chronic lymphocytic leukemia.
abstract: To better define the place of multiplex ligation-dependent probe amplification (MLPA) in routine cytogenetic diagnosis in chronic lymphocytic leukemia (CLL), we compared MLPA and fluorescence in situ hybridization (iFISH) data obtained in 77 CLL patients. Although MLPA detected most recurrent copy number genomic aberrations (90.9%), false-negative results were found in cases with small-size abnormal clones and false-positive MLPA findings resulting from point mutations (TP53) or an apparent lack of probe specificity (chromosome 19) were observed. Thus, MLPA may be a useful complementary but not alternative approach for iFISH testing of genomic aberration in CLL.
authors: Clermont-Ferrand University Hospital, Department of Medical Cytogenetics, 63003 Clermont-Ferrand, France.
authors: Lauren
authors: L
authors: Véronèse
authors: Olivier
authors: O
authors: Tournilhac
authors: Patricia
authors: P
authors: Combes
authors: Nolwen
authors: N
authors: Prie
authors: Eléonore
authors: E
authors: Pierre-Eymard
authors: Romain
authors: R
authors: Guièze
authors: Richard
authors: R
authors: Veyrat-Masson
authors: Jacques-Olivier
authors: JO
authors: Bay
authors: Philippe
authors: P
authors: Vago
authors: Andreï
authors: A
authors: Tchirkov
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations / Q000706:statistics & numerical data; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003955:Diagnostic Tests, Routine / Q000379:methods*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods; D011379:Prognosis