title: Could the mosaic pattern of chromosomal abnormality predict overall survival of patients with myelodysplastic syndrome?
abstract: OBJECTIVE
  Myelodysplastic syndromes (MDSs) are a group of monoclonal hematopoietic diseases consisting of a number of various entities. The presence of differences in chromosomal content of cells within the same individual is known as chromosomal mosaicism. The impact of mosaic pattern on the prognosis of MDS has been unclear. In this study, we aimed to determine the impact of mosaic pattern on the survival of patients with MDS.
  
  
  METHODS
  We retrospectively evaluated 119 patients diagnosed with MDS at the Trakya University Faculty of Medicine, Department of Hematology. Giemsa-Trypsin-Giemsa banding was used to evaluate chromosomal abnormality. The effect of chromosomal abnormality mosaicism on overall survival and transformation to acute leukemia was evaluated by Kaplan-Meier survival analysis.
  
  
  RESULTS
  The mean age at diagnosis was 66.3years, and the mean disease duration was 24.2months. Chromosomal abnormality was observed in 32.5% of patients. Patients with chromosomal abnormalities comprising at least 50% metaphases had significantly lower overall survival than patients with abnormality comprising up to 50% of all abnormal metaphases (p=.003). There were no differences in transformation to acute leukemia among patients with higher and lower chromosomal mosaicism (p=.056).
  
  
  CONCLUSIONS
  The most important outcome of this study was to demonstrate worse overall survival rates in MDS patients with higher abnormal chromosomal mosaicism than patients with lesser abnormal chromosomal mosaicism. Higher levels of abnormal chromosomal mosaicism did not predict transformation to acute leukemia. The cause of worse outcomes of patients with higher abnormal chromosomal mosaicism may be related to clonal mass.
authors.affiliation: Department of Hematology, Trakya University Medical Faculty, Edirne, Turkey. Electronic address: msevkiuyanik@gmail.com.
authors.forename: Mehmet Sevki
authors.initials: MS
authors.lastname: Uyanik
authors.affiliation: Department of Hematology, Trakya University Medical Faculty, Edirne, Turkey.
authors.forename: Ahmet Muzaffer
authors.initials: AM
authors.lastname: Demir
authors.affiliation: Department of Internal Medicine, Trakya University Medical Faculty, Edirne, Turkey.
authors.forename: Idris
authors.initials: I
authors.lastname: Kurt
authors.affiliation: Department of Hematology, Trakya University Medical Faculty, Edirne, Turkey.
authors.forename: Muhammet
authors.initials: M
authors.lastname: Maden
authors.affiliation: Department of Pathology, Trakya University Medical Faculty, Edirne, Turkey.
authors.forename: Fulya
authors.initials: F
authors.lastname: Oz Puyan
authors.affiliation: Department of Genetics, Trakya University Medical Faculty, Edirne, Turkey.
authors.forename: Hakan
authors.initials: H
authors.lastname: Gurkan
authors.affiliation: Department of Hematology, Trakya University Medical Faculty, Edirne, Turkey.
authors.forename: Elif Gulsum
authors.initials: EG
authors.lastname: Umit
authors.affiliation: Department of Hematology, Trakya University Medical Faculty, Edirne, Turkey.
authors.forename: Gulsum Emel
authors.initials: GE
authors.lastname: Pamuk
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D003710:Demography; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008677:Metaphase; D008875:Middle Aged; D009030:Mosaicism; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D016019:Survival Analysis; D014944:World Health Organization
keywords: Chromosomal abnormality; Mosaicism; Myelodysplastic syndrome; Prognosis