title: [Cytogenetic alterations found by chromosome analysis and fish technique in two patients with variant chronic lymphocytic leukemia].
abstract: Chromosomal studies in CLL have yielded poorer results than in other blood diseases because of the low mitotic index of the B cells. The FISH technique is a very useful tool for trisomy 12 detection in interphase nuclei in CLL, although this method cannot be a substitutive for conventional cytogenetics. The FISH technique was applied in two cases of CLL by means of satellite DNA probing specific for chromosome 12 according to the Oncor S 1370-CF kit protocol. Trisomy 12 was detected, along with other chromosomal abnormalities secondary to this trisomy. Both patients had lymphocyte counts lower than 5.0 x 10(9)/L and their peripheral blood immunophenotype showed 58% lymphocytes with lambda sIg of medium density, co-expressing CD5 and unable to form rosettes with mouse red-cells. Patient no. 1 was 46,XY/47,XY + 12/47,XY + 12,5q-, and patient no. 2 was 46,XX/47,XX + 12,14q-. The presence of secondary anomalies could explain the special clinico-haematological picture, characterised by low lymphocytosis and presence of irregular nuclei in mature lymphocytes, along with the lack of CD23 expression and rosette formation with mouse red-cells. FISH technique combined with chromosome analysis may prove a useful means for diagnosing and recognising variants or specific entities within low-grade lymphoproliferative syndromes.
authors.affiliation: Servicio de Genética, Hospital Universitario 12 de Octubre.
authors.forename: M L
authors.initials: ML
authors.lastname: Martín
authors.forename: M L
authors.initials: ML
authors.lastname: Marqués
authors.forename: A
authors.initials: A
authors.lastname: García
authors.forename: M A
authors.initials: MA
authors.lastname: Montalbán
authors.forename: R
authors.initials: R
authors.lastname: Toscano
authors.forename: A
authors.initials: A
authors.lastname: Moreno
authors.forename: M J
authors.initials: MJ
authors.lastname: Gómez
authors.forename: E
authors.initials: E
authors.lastname: Barreiro
mesh_terms: D000368:Aged; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000276:immunology; D008297:Male; D011379:Prognosis
vernacular_title: Alteraciones citogenéticas encontradas por análisis cromosómico y técnica FISH en dos pacientes con variantes de leucemia linfática cronica.