Monosomal karyotypes apart from complex karyotypes independently predict the outcome of myelodysplastic syndrome patients using a fluorescence in situ hybridization panel and conventional cytogenetics

INTRODUCTION: The aim of the study was to analyze monosomal karyotype (MK) occurrence and the relationship between MKs and complex karyotypes (CKs) and to determine the prognostic significance of MKs in MDS patients based on conventional cytogenetic (CC) and fluorescence in situ hybridization (FISH) analyses. METHODS: CC and FISH analyses were conducted for 216 primary MDS patients. Follow-ups and statistical analysis were conducted. RESULTS: A total of 25 (11.6%) patients with MKs were identified by FISH and CC analyses, and 23 (92%) of these MKs were also CKs. Only 19 patients (8.8%) with MKs were identified by CC analysis. Patients with MKs had higher bone marrow (BM) blast counts (P = 0.006), incidence of very high risk according to International Prognostic Scoring System-Revised (IPSS-R) (P < 0.001), leukemic transformation (P = 0.003,) and death rates (P < 0.001) than those without MKs. Overall survival (OS) and progression-free survival (PFS) of MK or CK patients which were additionally detected by FISH and CC analyses had no statistical significance with those MK or CK patients detected by CC analyses separately. Multivariate analysis indicated that MK (P < 0.001), blast in BM (P < 0.001) and age (P = 0.028) were inferior independent prognostic factors in OS, whereas CK (P = 0.003) was the inferior independent prognostic factor in PFS. CONCLUSION: The MDS FISH panel may provide additional information for defining MKs beyond CC analysis. MK was an important indicator of OS in MDS patients, and CK indicated inferior disease progression but did not influence OS according to CC and FISH analyses.