PMID- 12040444
OWN - NLM
STAT- MEDLINE
DCOM- 20020624
LR  - 20130304
IS  - 0887-6924 (Print)
IS  - 0887-6924 (Linking)
VI  - 16
IP  - 6
DP  - 2002 Jun
TI  - Amplification of AML1 gene is present in childhood acute lymphoblastic leukemia 
      but not in adult, and is not associated with AML1 gene mutation.
PG  - 1131-4
AB  - The AML1/CBFA2/RUNX1 gene is the target of many recurrent translocations seen in 
      different leukemia subtypes. The t(12;21)(p13;q22) is the most frequent 
      translocation observed in childhood B acute lymphoblastic leukemia (ALL), 
      occurring in 20% to 25% of cases. In adult ALL this rearrangement is scarce. 
      Another route of AML1deregulation could be point mutations in the runt domain. We 
      now report on AML1amplification in two cases of childhood ALL, found in a series 
      of 107 consecutive children with B-lineage ALL analyzed by fluorescence in situ 
      hybridization (FISH). A parallel analysis of 42 adult B-ALL failed to detect any 
      AML1 rearrangement by FISH. The two patients with AML1 amplification were further 
      analyzed using molecular techniques. SSCP analysis did not detect any mutation. 
      Furthermore, direct sequencing of the cDNA did not reveal any mutation. In 
      conclusion, AML1amplification seems to be observed only in childhood ALL and is 
      not associated with AML1 gene mutation. Other mechanisms, such as gene dosage 
      effects could be hypothesized.
FAU - Penther, D
AU  - Penther D
AD  - Laboratory of Hematology, University Hospital, Nantes, France.
FAU - Preudhomme, C
AU  - Preudhomme C
FAU - Talmant, P
AU  - Talmant P
FAU - Roumier, C
AU  - Roumier C
FAU - Godon, A
AU  - Godon A
FAU - Mechinaud, F
AU  - Mechinaud F
FAU - Milpied, N
AU  - Milpied N
FAU - Bataille, R
AU  - Bataille R
FAU - Avet-Loiseau, H
AU  - Avet-Loiseau H
LA  - eng
PT  - Journal Article
PL  - England
TA  - Leukemia
JT  - Leukemia
JID - 8704895
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (RUNX1 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Burkitt Lymphoma/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Core Binding Factor Alpha 2 Subunit
MH  - DNA-Binding Proteins/*genetics
MH  - *Gene Amplification
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Middle Aged
MH  - Mutation
MH  - *Proto-Oncogene Proteins
MH  - Transcription Factors/*genetics
EDAT- 2002/06/01 10:00
MHDA- 2002/06/25 10:01
CRDT- 2002/06/01 10:00
PHST- 2001/07/13 00:00 [received]
PHST- 2001/12/28 00:00 [accepted]
PHST- 2002/06/01 10:00 [pubmed]
PHST- 2002/06/25 10:01 [medline]
PHST- 2002/06/01 10:00 [entrez]
AID - 10.1038/sj.leu.2402479 [doi]
PST - ppublish
SO  - Leukemia. 2002 Jun;16(6):1131-4. doi: 10.1038/sj.leu.2402479.