Cytogenetic Profiles and Prognostic Importance

Cytogenetic analysis remains one of the most important diagnostic and prognostic tools in patients with myelodysplastic syndromes (MDS).1

Association of cytogenetic profiles with prognostics and survival, according to Revised International Prognostic Scoring System (IPSS-R)2,3

aHR is a measure of how often an event (in this case survival) occurs in one group compared to how often it occurs in a second group.4


HR, hazard ratio; OS, overall survival.

The most common cytogenetic abnormalities in MDS include: del(5q), trisomy 8 (+8), del(20q), monosomy 7 (-7), or del(7q).1

Cytogenetic Abnormality Prognosis
Isolated del(5q)5
  • Good prognosis
  • Prognosis becomes unfavorable when accompanied by additional chromosomal aberrations
  • The proximal 5q31.1-q31.2 region also poses an increased risk of evolving to acute myeloid leukemia (AML)
Isolated trisomy 8 (+8)5 Intermediate cytogenetic risk group, according to the IPSS-R.
Isolated del(20q)5
  • Seen in both primary and therapy-related MDS patients
  • May exacerbate malignancy due to the deletion of tumor suppressor genes
Deletion of 7q22 in bone marrow cells5 Could contribute to hematopoietic abnormalities and increased proliferation of hematopoietic stem cells.
Monosomy 7 (-7)5 Has been regarded as an independent predictor of survival in patients with higher-risk MDS and is shown to be associated with worse overall survival in patients.
Complex karyotype (CK)5 Defined as the existence of at least 3 chromosomal alterations; is prevalent in secondary MDS and associated with aggressive disease.
Karyotypes t(8;21), t(15;17), or inv(16)6 Patients with these alterations are considered to have AML even if the marrow blast count is less than 20%.

References: 1. Nazha A, Sekeres MA, Gore SD, Zeidan AM. Molecular testing in myelodysplastic syndromes for the practicing oncologist: will the progress fulfill the promise? Oncologist. 2015;20(9):1069-1076. 2. Schanz J, Tüchler H, Solé F, et al. New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes (MDS) and oligoblastic acute myeloid leukemia after MDS derived from an international database merge. J Clin Oncol. 2012;30(8):820-829. 3. Garcia-Manero G. Myelodysplastic syndromes: 2015 update on diagnosis, risk-stratification and management. Am J Hematol. 2015;90(9):831-841. 4. NCI Dictionary of Cancer Terms [database online]. Bethesda, MD: National Cancer Institute; 2019. Available at: Accessed June 28, 2019. 5. Song Q, Peng M, Chu Y, Huang S. Techniques for detecting chromosomal aberrations in myelodysplastic syndromes. Oncotarget. 2017;8(37):62716-62729. 6. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Myelodysplastic Syndromes V.1.2020. © National Comprehensive Cancer Network, Inc. 2019. All rights reserved. Accessed August 28, 2019. To view the most recent and complete version of the guideline, go online to NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.