title: Cytogenetic Profile of De Novo B lineage Acute Lymphoblastic Leukemia: Determination of Frequency, Distribution Pattern and Identification of Rare and Novel Chromosomal Aberrations in Indian Patients.
abstract: BACKGROUND
  Chromosomal aberrations identified in acute lymphoblastic leukemia (ALL) have an important role in disease diagnosis, prognosis and management. Information on karyotype and associated clinical parameters are essential to physicians for planning cancer control interventions in different geographical regions.
  
  
  METHODS
  In this study, we present the overall frequency and distribution patterns of chromosomal aberrations in both children and adult de novo B lineage ALL Indian patients using conventional cytogenetics, interphase FISH and multiplex RT-PCR.
  
  
  RESULTS
  Among the 215 subjects, cytogenetic results were achieved in 172 (80%) patients; normal karyotype represented 37.2% and abnormal 62.8% with a distribution as follows: 15.3% hypodiploidy; 10.3% hyperdiploidy; 15.8% t(9;22); 9.8% t(1;19); 3.7% t(12;21); 2.8% t(4;11); 2.8% complex karyotypes. Apart from these, we observed several novel, rare and common chromosomal rearrangements. Also, FISH studies using LSI extra-signal dual-color probes revealed additional structural or numerical changes.
  
  
  CONCLUSIONS
  These results demonstrate cytogenetic heterogeneity of ALL and confirm that the incidence of chromosomal abnormalities varies considerably. To the best of our knowledge, this is one of the largest reported series of cytogenetic investigations in Indian B-lineage ALL cases. In addition, ongoing cytogenetic studies are warranted in larger groups of B-lineage ALL cases to identify newly acquired chromosomal abnormalities that may contribute to disease diagnosis and management.
authors.affiliation: Research and Development, SRL Ltd., Mumbai, India E-mail : swarna@srl.in.
authors.forename: Prerana
authors.initials: P
authors.lastname: Bhandari
authors.forename: Firoz
authors.initials: F
authors.lastname: Ahmad
authors.forename: Rupa
authors.initials: R
authors.lastname: Dalvi
authors.forename: Neeraja
authors.initials: N
authors.lastname: Koppaka
authors.forename: Prajakta
authors.initials: P
authors.lastname: Kokate
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; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D011379:Prognosis; D055815:Young Adult
chemical_list: D015514:Oncogene Proteins, Fusion