RESUMO
Interphase fluorescence in situ hybridization was used to detect common deletions in B-CLL patients as well as trisomy 12 and aberrations of IgH gene complex at 14q32.33 where we evaluated not only translocation-like signal pattern but also deletions. 120 (82%) patients showed genetic changes - del(13)(q14) 95 (62%), deletion of ATM gene 22 (15%), deletion of p53 gene 25 (17%) and trisomy 12 was proved in 18 (12%) cases. IgH rearrangements were detected in 45 (31%), split of the signals in 11 (8%), deletion of 3' segment flanking IgH gene in 5 (3%) and deletions of variable segment in 29 (20%) patients. Although deletions of 3' segment flanking IgH gene complex are supposed to have an adverse prognostic impact and the genetic background of variable segment deletions is believed to be most probably physiological, we assumed a detailed mapping of the 14q32.33 region will be needed to unravel these mysteries.
Assuntos
Aberrações Cromossômicas , Leucemia Linfocítica Crônica de Células B/genética , Mutação , Idoso , Idoso de 80 Anos ou mais , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 14 , Análise Citogenética , Feminino , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Técnicas de Diagnóstico Molecular , Estudos Retrospectivos , Análise de Sobrevida , TrissomiaRESUMO
Bladder cancer is a heterogenous malignancy with wide scale of clinical manifestation. Different chromosomal aberrations have been already identified in bladder tumors. These aberrations can be detected by multicolor interphase fluorescence in situ hybridization (I-FISH) or comparative genomic hybridization (CGH). The aim of this study was to determine the diagnostic benefits of non-invasive I-FISH method and to comprehensively characterise genetic alterations using CGH in selected patients with bladder tumors. We examined 128 urine samples and correlated our results with histological findings. I-FISH using UroVysion kit showed positivity in 63,6 % of G1 tumors, 64,3 % of G2 tumors and 91,7 % in G3 tumors. We examined also 12 bladder tissue samples by means of CGH and various genetic alterations were ascertained independent on tumor grade. The most frequent gains and losses of DNA material were detected on chromosomes 1, 8, 9, 10, 11, 13, and 14. The contribution of I-FISH is in an early and non-invasive detection of bladder cancer recurrences during follow up of patients after the surgery. CGH provides information about further genetic alterations and some of them could be ascertained as recurrent changes with prognostic significance.
