title: Immunogenetics of chronic lymphocytic leukemia.
abstract: BACKGROUND
  Cytogenetic aberrations as well as presence of IGVH mutations are the underlying reason for clinical heterogeneity in Chronic Lymphocytic Leukemia (CLL). The presence of IGVH mutations as well as the predominant gene usage shows geographical variations. However, there is no study from India addressing immunogenetics of CLL. In a first Indian study we document the immunogenetics of CLL in a large tertiary hospital.
  
  
  METHODS
  We analyzed IGVH mutation status, VH gene usage, cytogenetic abnormalities using FISH, immunophenotyping data and correlated them with standard clinical variables in 84 patients of CLL.
  
  
  RESULTS
  Advanced Rai stage (Stage 3/4) was seen in 45% of our patients, where as 13q deletion was the commonest clonal cytogenetic abnormality detected in 48.4% of the cases. IGVH unmutated cases (55.2%) showed higher proportion expressing CD38 and CD49d, a preferential usage for VH1 and VH3 families (55.2%), presentation at an advanced Rai stage (52.8%) as well as more frequent presence of p53 deletions. As compared to the IGVH mutated cases greater proportion of IGVH unmutated patients (70%) required treatment. However, there was no significant difference in the time to treatment between mutated and unmutated cases which can be attributed to relatively short median follow up of 10 months.
  
  
  CONCLUSIONS
  To summarize, we have seen a higher proportion of IGVH unmutated patients in our cohort (55.2%). The commonly used VH genes in the Indian population are IGVH 2-5, IGVH 1-2 and IGVH 1-69. Longer clinical follow up and a larger cohort is necessary to confirm the prognostic value of IGVH mutation analysis in Indian Patients with CLL.
authors.affiliation: Hematopathology Laboratory, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Nikhil
authors.initials: N
authors.lastname: Patkar
authors.affiliation: Hematopathology Laboratory, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Nikhil
authors.initials: N
authors.lastname: Rabade
authors.affiliation: Department of Cancer Cytogenetics, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Pratibha Amare
authors.initials: PA
authors.lastname: Kadam
authors.affiliation: Hematopathology Laboratory, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Falguni
authors.initials: F
authors.lastname: Mishra
authors.affiliation: Hematopathology Laboratory, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Aditi
authors.initials: A
authors.lastname: Muranjan
authors.affiliation: Hematopathology Laboratory, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Prashant
authors.initials: P
authors.lastname: Tembhare
authors.affiliation: Hematopathology Laboratory, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Shruti
authors.initials: S
authors.lastname: Chaudhary
authors.affiliation: Hematopathology Laboratory, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Swapnali
authors.initials: S
authors.lastname: Joshi
authors.affiliation: Department of Medical Oncology, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Hasmukh
authors.initials: H
authors.lastname: Jain
authors.affiliation: Department of Medical Oncology, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Uma
authors.initials: U
authors.lastname: Dangi
authors.affiliation: Department of Medical Oncology, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Bhausaheb
authors.initials: B
authors.lastname: Bagal
authors.affiliation: Department of Medical Oncology, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Navin
authors.initials: N
authors.lastname: Khattry
authors.affiliation: Department of Medical Oncology, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Hari
authors.initials: H
authors.lastname: Menon
authors.affiliation: Hematopathology Laboratory, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Sumeet
authors.initials: S
authors.lastname: Gujral
authors.affiliation: Department of Medical Oncology, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: Manju
authors.initials: M
authors.lastname: Sengar
authors.affiliation: Hematopathology Laboratory, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.
authors.forename: P G
authors.initials: PG
authors.lastname: Subramanian
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D003582:Cytogenetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007135:Immunoglobulin Variable Region / Q000235:genetics*; D016130:Immunophenotyping; D007194:India; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D062606:Tertiary Care Centers
chemical_list: D007143:Immunoglobulin Heavy Chains; D007135:Immunoglobulin Variable Region