PMID- 8527389
OWN - NLM
STAT- MEDLINE
DCOM- 19960130
LR  - 20191023
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 14
IP  - 1
DP  - 1995 Sep
TI  - Complex MLL rearrangement in a patient with T-cell acute lymphoblastic leukemia.
PG  - 76-84
AB  - MLL (also known as ALL-I, HTRX, or HRX) gene translocations are among the most 
      common chromosomal abnormalities recognized in both B-lineage acute lymphoblastic 
      leukemia (ALL) and acute myeloid leukemia (AML). However, MLL gene rearrangements 
      are uncommon in T-cell ALL. We recently detected an MLL gene rearrangement in a 
      patient with typical T-cell ALL. We recently detected an MLL gene rearrangement 
      in a patient with typical T-cell ALL (CD2+, CD4+, CD5+, CD7+, CD8+, HLA DR-) and 
      an apparently normal karyotype (46,XX). The rearrangement was cloned and 
      characterized; a DNA fragment distal to the breakpoint was mapped by fluorescence 
      in situ hybridization (FISH) to 19p13, indicating that the leukemic blasts had 
      undergone a cytogenetically undetected rearrangement involving chromosomes 11 and 
      19. A reverse transcriptase-polymerase chain reaction (RT-PCR) assay demonstrated 
      an in-frame fusion mRNA between the amino terminus of MLL and the carboxy 
      terminus of ENL (also known as MLLT1 or LTG19), a gene that has been mapped to 
      19p13. In addition, MLL sequences distal (telomeric) to the breakpoint were 
      deleted from the genome, which precludes the formation of a reciprocal ENL/MLL 
      fusion protein. These findings suggest that an MLL/ENL fusion protein (and not a 
      reciprocal ENL/MLL fusion) was likely to be pathogenic in this patient, and they 
      reinforce previous studies showing that leukemic blasts with apparently normal 
      karyotype may harbor MLL rearrangements. Additionally, this report provides the 
      first conclusive evidence of an MLL/ENL gene fusion characterized at a molecular 
      level in a patient with T-cell ALL.
FAU - Chervinsky, D S
AU  - Chervinsky DS
AD  - Department of Pediatrics, Roswell Park Cancer Institute, Buffalo, New York 14263, 
      USA.
FAU - Sait, S N
AU  - Sait SN
FAU - Nowak, N J
AU  - Nowak NJ
FAU - Shows, T B
AU  - Shows TB
FAU - Aplan, P D
AU  - Aplan PD
LA  - eng
GR  - 600333/PHS HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (DNA, Neoplasm)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (KMT2A protein, human)
RN  - 0 (MLLT1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Transcription Factors)
RN  - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein)
RN  - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase)
SB  - IM
MH  - Base Sequence
MH  - Child
MH  - *Chromosomes, Human, Pair 19
MH  - DNA, Neoplasm
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - Gene Deletion
MH  - *Gene Rearrangement, T-Lymphocyte
MH  - Histone-Lysine N-Methyltransferase
MH  - Humans
MH  - Leukemia-Lymphoma, Adult T-Cell/*genetics
MH  - Molecular Sequence Data
MH  - Myeloid-Lymphoid Leukemia Protein
MH  - Neoplasm Proteins/genetics
MH  - Nuclear Proteins/genetics
MH  - *Proto-Oncogenes
MH  - *Transcription Factors
MH  - Translocation, Genetic
EDAT- 1995/09/01 00:00
MHDA- 1995/09/01 00:01
CRDT- 1995/09/01 00:00
PHST- 1995/09/01 00:00 [pubmed]
PHST- 1995/09/01 00:01 [medline]
PHST- 1995/09/01 00:00 [entrez]
AID - 10.1002/gcc.2870140114 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 1995 Sep;14(1):76-84. doi: 10.1002/gcc.2870140114.