Clinical significance of fluorescence in situ hybridization in myelodysplastic syndrome

Abstract

Objective To study the importance of fluorescence in situ hybridization (FISH) in the diagnosis, cytogenetics and prognosis evaluation of myelodysplastic syndrome’s (MDS). Methods Retrospectively analyzed the expression and the significance of cytogenetics in 113 MDS patients with FISH in the Second Hospital Shanxi Medical University from December 2010 to April 2015. Results ①According to WHO (2008) classification and diagnosis of MDS, the 113 patients included 16.0%(18/113) Refractory cytopenia with unilineage dyspiasia (RCUD), 2.6%(3/118) refractory anemia with ringed sideroblasts (RARS), 28.3%(32/113) refractory cytopenia with mutilineage dysplasia (RCMD), 44.2%(50/113) refractory anemia with excess blast (RAEB), 8.0%(9/113) myelodysplastic syndrome, unclassified (MDS-U), and 0.9%(1/113) MDS associated with isolated del (5q). The MDS patients with abnormal cytogenetics accounted for 44.2%(50/113), and order is + 8(23.9%), -5/5q-(15.9%), -7/7q-(14.2%), 20q-(9.7%), -Y(2.7%), and complex karyotype 8.0%(9/113). In all the cases, 24(21.2%) patients have abnormal number of chromosomes 17(15.0%) patients have abnormal structure of chromosomes, 13(11.5%) patients exhibit both number and structural abnormalities in chromosomes. Among all subsets of MDS patients, RCUD has the highest cytogenetic abnormal rate (~50%, 9/18), the abnormal rate in RAEB group for 48.0%(24/50), RCMD for 43.8%(4/32), RARS for 33.3(1/3). According to the Revised International Prognostic Scoring System (IPSS-R), very low subgroup accounting for 0.9%(1/113), low subgroup accounting for 23.0%(26/113), intermediate subgroup accounting for 31.9%(36/113), high subgroup accounting for 31.9%(36/113), and very high subgroup accounting for 12.4%(14/113). ②The platelet counts were lower in monomer karyotype cases than the non-monomer karyotype cases, and the difference between the two groups was statistically significant (P=0.039). Conclusion FISH detection is significant in diagnosis, predicting prognosis and guiding treatment of MDS, and introducing monomer karyotype into MDS patients’ risk stratification criteria is meaningful for improving prognostic stratification accuracy. Key words: Myelodysplastic syndrome; Fluorescence in situ hybridization; Cytogenetic