Application of molecular cytogenetic in the diagnosis of patients with congenital ...
Full text | |
Author(s): |
Maria de Lourdes L. F. Chauffaille
[1]
;
Aníbal Ribeiro Jr.
[2]
;
Mihoko Yamamoto
[3]
;
Maria Madalena Rodrigues
;
Manuella S. S. Almeida
[5]
;
Christian Ribas
[6]
;
Luis A. Calheiros
[7]
;
Giselle W. B. Colleoni
[8]
Total Authors: 8
|
Affiliation: | [1] Universidade Federal de São Paulo
[2] Universidade Federal de São Paulo
[3] Universidade Federal de São Paulo
[5] Universidade Federal de São Paulo
[6] Universidade Federal de São Paulo
[7] Universidade Federal de São Paulo
[8] Universidade Federal de São Paulo
Total Affiliations: 8
|
Document type: | Journal article |
Source: | Jornal Brasileiro de Patologia e Medicina Laboratorial; v. 43, n. 1, p. 17-23, 2007-02-00. |
Abstract | |
This study aimed to characterize genetic alterations by interphase multicentromeric FISH focusing on chromosomal numerical abnormalities and using some locus specific probes for the most frequent aberrations found in the disease, in a homogeneous cohort of 34 advanced stage, but recently diagnosed MM patients; 97% had numerical chromosomal abnormalities detected by FISH, being 75% hyperdiploid, 18% hypodiploid and 3% tri/tetraploid. Using locus specific probes, we found 13q deletion in 30% and IGH rearrangement in 25% of cases. Grouping hypodiploid patients together with del13q (unfavorable group) and comparing them to the remaining cases (non unfavorable group) we found a trend towards younger patients presenting more unfavorable abnormalities (p = 0.06) and significant lower hemoglobin level (Hb < 8.5 mg/dl, p = 0.03). (AU) |