title: IKZF1 (IKAROS) deletions in B-ALL and its clinical correlation: A prospective study from a tertiary care centre in Northern India.
abstract: BACKGROUND
  IKZF1 deletions have been reported with variable frequency in B-ALL. This study was carried out to find the prevalence and profile of IKZF1 deletions and their correlation in B-ALL.
  
  
  METHODS
  The untreated B-ALL cases were prospectively analyzed for IKZF1 deletions over a period of eleven months using multiplex ligation dependent probe amplification (MLPA). The IKZF1 deletions were classified into three functional groups-dominant negative, haploinsufficiency and others. The response to induction chemotherapy was correlated with the IKZF1 deletion status.
  
  
  RESULTS
  The median age of 101 cases was 7 years (1-67) with 82 pediatric (<18 years) cases. Fifteen cases were positive for BCR-ABL. The IKZF1 deletions were detected in 29 (28.7%) cases; 53% BCR-ABL positive, 24% BCR-ABL negative, 47% adult and 24% pediatric cases. Out of the 29 deletions, 19 (66%) were haploinsufficiency, 8 (28%) were dominant negative and 2 others. The IKZF1 deleted cases had higher induction failure rates compared to the cases without IKZF1 deletions.
  
  
  CONCLUSIONS
  The IKZF1 deletions were detected in 28.7% B-ALL patients. These were more common in BCR-ABL positive and adult B-ALL compared to the BCR-ABL negative and pediatric cases, respectively. The haploinsufficiency was commoner than dominant negative IKZF1 deletions. IKZF1 deletions correlated with higher induction failure.
authors.affiliation: Lab Oncology Unit, Dr BRAIRCH, All India Institute of Medical Sciences (AIIMS), Room No 424, Lab Oncology Unit, Ansari Nagar, 110029 New Delhi, India. Electronic address: drskgupta1@gmail.com.
authors.forename: Sanjeev Kumar
authors.initials: SK
authors.lastname: Gupta
authors.affiliation: Department of Medical Oncology, Dr BRAIRCH, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
authors.forename: Sameer
authors.initials: S
authors.lastname: Bakhshi
authors.affiliation: Department of Medical Oncology, Dr BRAIRCH, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
authors.forename: Lalit
authors.initials: L
authors.lastname: Kumar
authors.affiliation: Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
authors.forename: Rachna
authors.initials: R
authors.lastname: Seth
authors.affiliation: Lab Oncology Unit, Dr BRAIRCH, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
authors.forename: Rajive
authors.initials: R
authors.lastname: Kumar
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000970:Antineoplastic Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006801:Humans; D051740:Ikaros Transcription Factor / Q000235:genetics*; D007194:India; D060828:Induction Chemotherapy; D008297:Male; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D016133:Polymerase Chain Reaction; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy* / Q000235:genetics*; D011446:Prospective Studies; D017384:Sequence Deletion; D062606:Tertiary Care Centers; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D000970:Antineoplastic Agents; C497239:IKZF1 protein, human; D051740:Ikaros Transcription Factor; D016044:Fusion Proteins, bcr-abl
keywords: B-ALL genetic changes; IKAROS Deletions in ALL; IKZF1 Mutations; Original Article