Identification of various MLL gene aberrations that lead to MLL gene mutation in patients with acute lymphoblastic leukemia (ALL) and infants with acute leukemia.
Studies were done to investigate MLL gene aberrations using Conventional Cytogenetics, Southern blotting as well as FISH using a panel of probes on 218 cases which included 206 cases of pediatric/young adult ALL and 12 cases of infantile acute leukemias from Tata Memorial Hospital, India. The incidence of MLL gene rearrangements in acute lymphoblastic leukemia (ALL) was 9.4% which included infants as well as pediatric/young adults. In infantile group which included ALL as well as AML cases, MLL gene rearrangement was very common (75% frequency). Application of metaphase-FISH helped unravel MLL rearrangements not only as a result of translocations but also inversions, insertions, partial deletion, duplications, partial duplication-->self-fusion. Besides age, MLL gene rearrangements showed significant association with hyperleukocytosis, peripheral blood blast percentage and early Pre-B phenotype. Clinical outcome of patients with MLL gene rearrangements revealed unfavorable prognosis.
Pais
Anurita
A
Cancer Cytogenetics Laboratory, 7th floor, Annex Building, Dr. Ernest Borges Marg, Tata Memorial Hospital, Parel, Mumbai 400012, India.
Amare Kadam
Pratibha
P
Raje
Gauri
G
Sawant
Manisha
M
Kabre
Sharayu
S
Jain
Hemani
H
Advani
Suresh
S
Banavali
Shripad
S
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007194:India; D007223:Infant; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D009154:Mutation; D051788:Myeloid-Lymphoid Leukemia Protein; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D011379:Prognosis; D011519:Proto-Oncogenes / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase