title: Cytogenetic profile of Indian patients with de novo myelodysplastic syndromes.
abstract: OBJECTIVE
  Myelodysplastic syndrome (MDS) is a clonal haematopoietic stem cell disorder characterized by ineffective haematopoiesis and leukaemia progression. Cytogenetic analysis has proven to be a mandatory part of the diagnosis of MDS as well as a major indicator for predicting clinical course and outcome. Studies on cytogenetics of MDS are reported mostly from the West and only a few are available from Asian countries. We report herein cytogenetic studies on 40 Indian patients with primary MDS to find out the occurrence and type of chromosome abnormalities and recurring defects.
  
  
  METHODS
  Cytogenetic analysis was done using GTG banding and karyotyped according to the International System for Human Cytogenetic Nomenclature (ISCN).
  
  
  RESULTS
  Of the 40 patients, 19 patients (47.5%) showed clonal karyotypic abnormalities with distribution as follows: 3 of 15 (20%) of refractory anaemia (RA), 4 of 7 (57%) of refractory anaemia with excess blasts-1 (RAEB-1), 4 of 6 (67%) of refractory anaemia with excess blasts 2 (RAEB-2), 2 of 3 (67%) of refractory anaemia with ring sideroblasts (RARS), 2 of 4 (50%) of refractory cytopenia with multilineage dysplasia (RCMD), none (0%) RCMD-ringed sideroblasts (RCMD-RS) and 4 patients with 5q syndrome. The frequent abnormalities observed in our study were -7, 5q-and trisomy 8.
  
  
  CONCLUSIONS
  Two rare chromosomal abnormalities (6q-, 3q-) were found with unknown prognostic significance. Hence, cytogenetic analysis may be incorporated in the routine diagnosis of MDS since there are racial differences in clinical pictures and the molecular events.
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Rekha
authors.initials: R
authors.lastname: Chaubey
authors.forename: Sudha
authors.initials: S
authors.lastname: Sazawal
authors.forename: Rima
authors.initials: R
authors.lastname: Dada
authors.forename: Manoranjan
authors.initials: M
authors.lastname: Mahapatra
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000753:Anemia, Refractory / Q000175:diagnosis / Q000235:genetics; D000754:Anemia, Refractory, with Excess of Blasts / Q000175:diagnosis / Q000235:genetics; D002869:Chromosome Aberrations; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics*; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics; D055815:Young Adult
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