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.

Cellularity, characteristics of hematopoietic parameters and prognosis in myelodysplastic syndromes

“…Corrêa de Souza et al . recently published a study on cytogenetic changes in a mixed cohort of both pediatric and adult patients with primary hypocellular MDS but did not find specific chromosomal changes associated to hypocellular MDS.…”

Clinico-pathological spectrum and novel karyotypic findings in myelodysplastic syndrome: Experience of tertiary care centre in India

“…The frequency of hypoplastic MDS documented in literature is 8–20%. 22 , 23 In a recent study of 100 hypoplastic MDS patients, it was observed that these patients have statistically significant lower peripheral blood counts, bone marrow blast percentages and a lower incidence of poor-risk cytogenetic abnormalities, as compared to the non hypoplastic groups. 24 On the contrary, in our cohort of 9.3% (14/150) patients with hypoplastic MDS, the median blast count was 5% and 78% (7/9) of these patients were found to harbor abnormal karyotype ( Supplementary table 2 ).…”

Molecular Targeted Therapy and Immunotherapy for Myelodysplastic Syndrome

“…Karyotypic abnormalities are seen in approximately 30–50% of patients with MDS and correlated with prognosis [ 5 , 6 , 7 ]. On the other hand, mutations are detectable by next generation sequencing (NGS) in more than 80% of patients with MDS with distinct mutation profiles observed in different MDS subtypes [ 8 , 9 , 10 , 11 , 12 ].…”