151. Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome
- Author
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Adriana Camargo, Elaine Sobral da Costa, Luis Fernando Bouzas, Cecília de Souza Fernandez, Daiane Corrêa de Souza, Eliana Abdelhay, Teresa de Souza Fernandez, and Alexandre Apa
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Chromosomal Alterations ,Article Subject ,Adolescent ,lcsh:Medicine ,Chromosome Disorders ,Disease ,Biology ,Gastroenterology ,Sensitivity and Specificity ,General Biochemistry, Genetics and Molecular Biology ,Young Adult ,Internal medicine ,hemic and lymphatic diseases ,medicine ,Humans ,Genetic Testing ,Young adult ,Child ,Genetic testing ,Aged ,Aged, 80 and over ,Chromosome Aberrations ,General Immunology and Microbiology ,Adult patients ,medicine.diagnostic_test ,Myelodysplastic syndromes ,lcsh:R ,Infant ,Reproducibility of Results ,Karyotype ,General Medicine ,Middle Aged ,medicine.disease ,Prognosis ,Abnormal karyotypes ,Child, Preschool ,Myelodysplastic Syndromes ,Cytogenetic Analysis ,Female ,Brazil ,Research Article - 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. more...
- Published
- 2014