[Study on clinical and molecular biological characteristics of infant acute leukemia].
OBJECTIVE
To study the clinical and molecular biological characteristics of infant acute leukemia (IAL).


METHODS
R and/or G banding technique was used for analysis of karyotype. DNA blotting for HRX gene rearrangement, and polymerase chain reaction (PCR) and reverse transcriptase PCR (RT-PCR) for fusion gene detection.


RESULTS
Twenty cases of IAL were detected. HRX gene rearrangement was found in 10 cases, including HRX/AF-4 fusion gene in 5, HRX/AF-9 fusion in 2, and HRX/ENL fusion in 1, HRX self-fusion mediated by alu-repeat homologous recombination and HRX/EEN fusion each in one (HRX/EEN is a novel fusion gene reported for the first time).


CONCLUSIONS
High frequency of HRX gene rearrangement occurred in IAL, which is characterised by a massive leukemia cell burden and 11q23 translocation, forming fusion genes, especially HRX/AF-4 (about 50%). The results are of important significance in guiding clinical treatment and approaching the etiology of IAL.
Gu
L
L
Xinhua Hospital of Shanghai Second Medical University, Shanghai Institute of Hematology, Shanghai 200092, China.
Ma
Z
Z
Dong
S
S
Kuang
S
S
Tong
Y
Y
Xue
H
H
D000208:Acute Disease; D015139:Blotting, Southern; D002675:Child, Preschool; D002869:Chromosome Aberrations; D004273:DNA, Neoplasm / Q000235:genetics / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D007621:Karyotyping; D007938:Leukemia / Q000235:genetics* / Q000276:immunology / Q000401:mortality; D007948:Leukemia, Monocytic, Acute / Q000235:genetics / Q000276:immunology / Q000401:mortality; D015470:Leukemia, Myeloid, Acute / Q000235:genetics / Q000276:immunology / Q000401:mortality; D008297:Male; D051788:Myeloid-Lymphoid Leukemia Protein; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics / Q000276:immunology / Q000401:mortality; D011519:Proto-Oncogenes; D012334:RNA, Neoplasm / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D015996:Survival Rate; D013997:Time Factors; D014157:Transcription Factors
D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D015514:Oncogene Proteins, Fusion; D012334:RNA, Neoplasm; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase