title: Cytogenetic as an important tool for diagnosis and prognosis for patients with hypocellular primary myelodysplastic syndrome.
abstract: We analyzed cytogenetically 105 patients with hypocellular primary MDS and their clinical implications. The main chromosomal abnormalities found were del(5q)/-5, del(6q)/+6, del(7q)/-7, del(11q), and del(17p). Pediatric patients had a higher frequency of abnormal karyotypes compared with adult patients (P < 0,05). From our patients, 18% showed evolution of the disease. The chromosomal abnormalities presented in the diagnosis of patients who evolved to AML included numerical (-7, +8) and structural del(6q), del(7q), i(7q), t(7;9), i(9q), and del(11q) abnormalities and complex karyotypes. Although the frequency of evolution from hypocellular MDS to AML is low, our results suggest that some chromosomal alterations may play a critical role during this process. We applied the IPSS in our patients because this score system has been proved to be useful for predicting evolution of disease. When we considered the patients according to group 1 (intermediate-1) and group 2 (intermediate-2 and high risk), we showed that group 2 had a high association with respect to the frequency of abnormal karyotypes (P < 0,0001), evolution of disease (P < 0,0001), and mortality (P < 0,001). In fact, the cytogenetic analysis for patients with hypocellular primary MDS is an important tool for diagnosis, prognosis, in clinical decision-making and in follow-up.
authors.affiliation: Bone Marrow Transplantation Center, National Cancer Institute (INCA), 20230-130 Rio de Janeiro, RJ, Brazil.
authors.forename: Daiane Corrêa
authors.initials: DC
authors.lastname: de Souza
authors.affiliation: Mathematical and Statistical Institute of Federal Fluminense University (UFF), 24020-140 Niterói, RJ, Brazil.
authors.forename: Cecília de Souza
authors.initials: Cde S
authors.lastname: Fernandez
authors.affiliation: Arthur Siqueira Cavalcanti Hematology Institute (HEMORIO), 20211-030 Rio de Janeiro, RJ, Brazil.
authors.forename: Adriana
authors.initials: A
authors.lastname: Camargo
authors.affiliation: Hematology Service, National Cancer Institute (INCA), 20230-130 Rio de Janeiro, RJ, Brazil.
authors.forename: Alexandre Gustavo
authors.initials: AG
authors.lastname: Apa
authors.affiliation: Pediatric and Puericulture Martagão Gesteira Institute, Federal University of Rio de Janeiro, 21941-590 RJ, Brazil.
authors.forename: Elaine Sobral
authors.initials: ES
authors.lastname: da Costa
authors.affiliation: Bone Marrow Transplantation Center, National Cancer Institute (INCA), 20230-130 Rio de Janeiro, RJ, Brazil.
authors.forename: Luis Fernando
authors.identifier: 0000-0002-6267-9448
authors.initials: LF
authors.lastname: Bouzas
authors.affiliation: Bone Marrow Transplantation Center, National Cancer Institute (INCA), 20230-130 Rio de Janeiro, RJ, Brazil.
authors.forename: Eliana
authors.initials: E
authors.lastname: Abdelhay
authors.affiliation: Bone Marrow Transplantation Center, National Cancer Institute (INCA), 20230-130 Rio de Janeiro, RJ, Brazil.
authors.forename: Teresa de Souza
authors.initials: Tde S
authors.lastname: Fernandez
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics*; D011379:Prognosis; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D055815:Young Adult