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 incide...

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Bibliographic Details
Published in:Leukemia research 2005-05, Vol.29 (5), p.517-526
Main Authors: Pais, Anurita, Amare Kadam, Pratibha, Raje, Gauri, Sawant, Manisha, Kabre, Sharayu, Jain, Hemani, Advani, Suresh, Banavali, Shripad
Format: Article
Language:English
Subjects:
Acute lymphoblastic leukemia
Adolescent
Adult
Child
Child, Preschool
Chromosome Aberrations
Conventional karyotyping
DNA-Binding Proteins - genetics
Female
FISH
Gene Rearrangement
Histone-Lysine N-Methyltransferase
Humans
In Situ Hybridization, Fluorescence
India
Infant
Karyotyping
Leukemia, Myeloid, Acute - genetics
Male
MLL
Mutation
Myeloid-Lymphoid Leukemia Protein
Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics
Prognosis
Proto-Oncogenes - genetics
Southern blotting
Transcription Factors - genetics
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Summary: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.
ISSN:0145-2126
1873-5835
DOI:10.1016/j.leukres.2004.11.016