Monosomal karyotype is an independent predictor of survival in patients with higher‐risk myelodysplastic syndrome

Abstract

A monosomal karyotype (MK) correlates with poor survival in patients with acute myeloid leukemia, although whether this is also the case in patients with myelodysplastic syndrome (MDS) remains controversial. Some studies report a correlation between a MK and a worse survival, whereas others claim that this correlation arises because of a confounding effect between a MK and a complex karyotype (CK). To address this question, we analyzed the clinical data and karyotypes of 610 adults with MDS. A MK was identified in 60 patients, of whom 55 (92%) also fulfilled the criteria for a CK. Conversely, a CK was found in 85 patients, of whom 55 (65%) also had a MK. .94]; P < 0.001, respectively) and surpassed the impact of a CK in the final survival models. Our data suggest that the addition of MK as a binary variable could improve the predictive accuracy of current models to estimate the survival of patients with MDS.

Monosomal Karyotype at the Time of Diagnosis or Transplantation Predicts Outcomes of Allogeneic Hematopoietic Cell Transplantation in Myelodysplastic Syndrome

“…Non-transplant studies have shown that MK has more a significant effect on survival compared with that found in other classification systems for complex cytogenetics in MDS. [18, 42, 43] The few recent studies evaluating the importance of MK in alloHCT have reported results similar to ours. In a specific cohort of MDS patients with chromosome 7 abnormalities, Van Gelder et al, using the European Group for Blood and Marrow transplantation (EBMT) database, showed that MK was more predictive of progression-free survival and OS after alloHCT than complex cytogenetics in 261 MDS or AML patients.…”

“…Other cytogenetic groupings recognizing the monosomal karyotype (MK) are also found to impact on OS in MDS patients. [18, 19] The molecular/genetic prognostic landscape remains complex in MDS, and it is not clear which prognostic system, the IPSS, R-IPSS, TSCG, or presence/absence of MK, are the most clinically relevant in the setting of alloHCT.…”

Hematopoietic Cell Transplantation Outcomes in Monosomal Karyotype Myeloid Malignancies

“…The revised IPSS cytogenetics include very poor cytogenetics as complex (>3) cytogenetic abnormalities which are associated with MK+. Xing et al analyzed outcomes of MDS patients showing complex karyotype and MK+ yielding similar poor outcomes(39). The revised IPSS confirmed poor prognosis for the very poor cytogenetics category (40).…”

Multiplex ligation-dependent probe amplification assay identifies additional copy number changes compared with R-band karyotype and provide more accuracy prognostic information in myelodysplastic syndromes

“…Karyotype analyses were performed on un-stimulated bone marrow cells after 24 h of culture using R-banding techniques [7]. Chromosome identification and karyotype descriptors used the International System for Human Cytogenetic Nomenclature (ISCN) [14].…”

“…Cytogenetic analysis provides important diagnostic and prognostic information for patients with MDS and plays an essential role in the International Prognostic Scoring System (IPSS) and the revised International Prognostic Scoring System (IPSS-R)[2–3]. Common cytogenetic abnormalities detected at diagnosis include -7/7q-, -5/5q-, +8, 20q-, -Y, i(17q) or t(17p), -13/13q-, 11q-, 12p- or t(12p), and the most common abnormalities (-7/7q-, -5/5q-, +8 and 20q-) occur in approximately 40% of all MDS cases[4–7]. The gold standard of cytogenetic diagnostics for MDS remains conventional chromosome banding analysis of bone marrow metaphases.…”