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Puiggros A.,Laboratori Of Citogenetica Molecular | Venturas M.,Laboratori Of Citogenetica Molecular | Salido M.,Laboratori Of Citogenetica Molecular | Blanco G.,Laboratori Of Citogenetica Molecular | And 23 more authors.
Genes Chromosomes and Cancer | Year: 2014

Deletion of 13q14 as the sole abnormality is a good prognostic marker in chronic lymphocytic leukemia (CLL). Nonetheless, the prognostic value of reciprocal 13q14 translocations [t(13q)] with related 13q losses has not been fully elucidated. We described clinical and biological characteristics of 25 CLL patients with t(13q), and compared with 62 patients carrying interstitial del(13q) by conventional G-banding cytogenetics (CGC) [i-del(13q)] and 295 patients with del(13q) only detected by fluorescence in situ hybridization (FISH) [F-del(13q)]. Besides from the CLL FISH panel (D13S319, CEP12, ATM, TP53), we studied RB1 deletions in all t(13q) cases and a representative group of i-del(13q) and F-del(13q). We analyzed NOTCH1, SF3B1, and MYD88 mutations in t(13q) cases by Sanger sequencing. In all, 25 distinct t(13q) were described. All these cases showed D13S319 deletion while 32% also lost RB1. The median percentage of 13q-deleted nuclei did not differ from i-del(13q) patients (73% vs. 64%), but both were significantly higher than F-del(13q) (52%, P<0.001). Moreover, t(13q) patients showed an increased incidence of biallelic del(13q) (52% vs. 11.3% and 14.9%, P<0.001) and higher rates of concomitant 17p deletion (37.5% vs. 8.6% and 7.2%, P<0.001). RB1 involvement was significantly higher in the i-del(13q) group (79%, P<0.001). Two t(13q) patients (11.8%) carried NOTCH1 mutations. Time to first treatment in t(13q) and i-del(13q) was shorter than F-del(13q) (67, 44, and 137 months, P=0.029), and preserved significance in the multivariate analysis. In conclusion, t(13q) and del(13q) patients detected by CGC constitute a subgroup within the 13q-deleted CLL patients associated with a worse clinical outcome. © 2014 Wiley Periodicals, Inc.

Baro C.,Laboratori Of Citogenetica Molecular | Baro C.,Autonomous University of Barcelona | Espinet B.,Laboratori Of Citogenetica Molecular | Salido M.,Laboratori Of Citogenetica Molecular | And 10 more authors.
Leukemia Research | Year: 2011

Follicular lymphoma (FL) is one of the most common non-Hodgkin lymphomas (NHL). Translocation t(14;18)(q32;q21) involving IGH and BCL2 genes represents its genetic hallmark. We present six cases of a series of 75 well diagnosed FL patients in which variant fluorescence in situ hybridization (FISH) patterns for this rearrangement were found. Moreover, G-banding cytogenetics and polymerase chain reaction (PCR) methods were unable to detect t(14;18)(q32;q21). According to our results, FISH is the best technique to define variant rearrangements of IGH/. BCL2 genes and is important to detect it in cases with non-conclusive FL characteristics to avoid misdiagnosis with other NHL. © 2010 Elsevier Ltd.

Puiggros A.,Programa de Recerca en Cancer | Puigdecanet E.,Servei dAnalisi de Microarrays | Salido M.,Programa de Recerca en Cancer | Salido M.,Laboratori Of Citogenetica Molecular | And 21 more authors.
Leukemia and Lymphoma | Year: 2013

Chronic lymphocytic leukemia (CLL) is characterized by a highly variable clinical course. Del(11q) and del(17p), routinely studied by conventional G-banding cytogenetics (CGC) and fluorescence in situ hybridization (FISH), have been related to progression and shorter overall survival. Recently, array-based karyotyping has gained acceptance as a high-resolution new tool for detecting genomic imbalances. The aim of the present study was to compare genomic arrays with CGC and FISH to ascertain whether the current techniques could be substituted in routine procedures. We analyzed 70 patients with CLL using the Cytogenetics Whole-Genome 2.7M Array and CytoScan HD Array (Affymetrix), CGC and FISH with the classical CLL panel. Whereas 31.4% and 68.6% of patients presented abnormalities when studied by CGC and FISH, respectively, these rates increased when arrays were also analyzed (78.6% and 80%). Although abnormality detection is higher when arrays are applied, one case with del(11q) and three with del(17p) were missed by genomic arrays due to their limited sensitivity. We consider that the complete substitution of CGC and FISH by genomic arrays in routine laboratories could negatively affect the management of some patients harboring 11q or 17p deletions. In conclusion, genomic arrays are valid to detect known and novel genomic imbalances in CLL, but should be maintained as a complementary tool to the current techniques. © 2013 Informa UK, Ltd.

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