title: Specific chromosomal aberrations in de novo acute myeloid leukemia: a comparative analysis of results with a report of three novel chromosomal rearrangements t(7;14)(q35;q13), t(8;18)(p11.2;q12), t(13;15) in Indian population.
abstract: BACKGROUND
  Acute myeloid leukemia (AML) is a heterogeneous disease with regard to morphology, immunophenotype, and genetic rearrangements. Multiple recurrent chromosomal aberrations have been identified by conventional cytogenetic analysis, which is now widely recognized as one of the most important diagnostic and prognostic determinants in AML.
  
  
  METHODS
  Conventional cytogenetic analysis was done on 200 de novo AML subjects.
  
  
  RESULTS
  Of these, 176 (88%) were successfully karyotyped and 24 (12%) showed culture failure. Among the 176 subjects, 101 (57.4%) were abnormal and 75 (42.6%) showed an apparently normal karyotype. The various aberrations observed were t(8;21)(q22;q22) (5.2%); t(15;17) (q22;q11-21) (9%); t(9;22)(q34;q11)(1.7%); t(14;17)(q32;q11.2)(0.5%); inv(16)(p13;q22)(1.7%); 11q23 rearrangements (4%); monosomy 7 (2.2%) and 22 (1.1%); deletion of 9q (q22q34) (5.1%), 5q (q13q33) (0.5%) and 13q (q13q31) (0.5%); common trisomies like +8 (5.6%), +16 (1.7%), +22 (1.1%), +21 (0.5%), +13 (0.5%), +11 (0.5%), +3 (0.5%); hyperdiploidy (3.4%); hypodiploidy (1.1%); complex karyotype (4%); and other structural abnormalities (4.5%). Apart from these, three novel chromosomal abnormalities viz. t(8;18), t(7;14), t(13;15) were observed in the current study population.
  
  
  CONCLUSIONS
  This study confirms that the incidence of chromosomal abnormalities varies considerably. Comparatively, the incidence t(15;17), and del9q is higher, while that of -5/del5q, -7/del7q and inv (16) were lower in our population. Similarly, the frequency of other recurrent FAB associated abnormalities viz. 11qabn was comparable to previous reports. Furthermore, ongoing cytogenetic studies are warranted in larger groups of AML cases to identify newly acquired chromosomal aberrations that may aid in cloning novel genes involved in the neoplastic process, ultimately helping in the development of targeted therapeutic drugs.
authors.affiliation: Research and Development, SRL Ranbaxy Ltd., 17th Street, MIDC, Andheri (E), Mumbai 400093, India.
authors.forename: Firoz
authors.initials: F
authors.lastname: Ahmad
authors.forename: Rupa
authors.initials: R
authors.lastname: Dalvi
authors.forename: Bibhu Ranjan
authors.initials: BR
authors.lastname: Das
authors.forename: Swarna
authors.initials: S
authors.lastname: Mandava
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007194:India; D007223:Infant; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged