PMID- 36309352
OWN - NLM
STAT- MEDLINE
DCOM- 20221101
LR  - 20240907
IS  - 1791-7549 (Electronic)
IS  - 0258-851X (Print)
IS  - 0258-851X (Linking)
VI  - 36
IP  - 6
DP  - 2022 Nov-Dec
TI  - Fusion of the HMGA2 and BNC2 Genes in Uterine Leiomyoma With t(9;12)(p22;q14).
PG  - 2654-2661
LID - 10.21873/invivo.13000 [doi]
AB  - BACKGROUND/AIM: The translocation t(9;12) (p22;q14~15) has been reported in 
      lipomas, pleomorphic adenomas, a myolipoma, two chondroid hamartomas, and two 
      uterine leiomyomas. In lipomas and pleomorphic adenomas, the translocation fuses 
      HMGA2 (12q14) with the NFIB gene from 9p22; in myolipoma, it fuses HMGA2 with 
      C9orf92 from 9p22; and in chondroid hamartomas, fluorescence in situ 
      hybridization (FISH) investigations showed the chromosomal aberration to cause 
      intragenic rearrangement of HMGA2. The translocation's molecular consequence in a 
      uterine leiomyoma is described here. MATERIALS AND METHODS: A typical leiomyoma 
      was investigated using banding cytogenetics, FISH, RNA sequencing, reverse 
      transcription polymerase chain reaction and Sanger sequencing. RESULTS: A single 
      translocation, t(9;12)(p22;q14) leading to an HMGA2::BNC2 chimera, was found in 
      tumor cells. A sequence of the untranslated part of exon 5 of HMGA2 (nucleotide 
      1035 in the NCBI reference sequence NM_003483.4) had fused with a sequence from 
      the untranslated part of exon 7 of BNC2 from 9p22 (nucleotide 9284 in reference 
      sequence NM_017637.6). CONCLUSION: At the molecular level, the 
      t(9;12)(p22;q14~15) found in several benign tumors appears to be heterogeneous 
      fusing HMGA2 with either BNC2, C9orf92 or NFIB which all three map close to one 
      another within a 3 Mbp region in 9p22. Because the fusion point in HMGA2 in the 
      present tumor lays downstream from the first Let-7 miRNA consensus binding site, 
      we conclude that deletion of the first Let-7 miRNA binding site is not important 
      for the transcriptional upregulation of HMGA2 caused by the genomic 
      rearrangement.
CI  - Copyright (c) 2022, International Institute of Anticancer Research (Dr. George J. 
      Delinasios), All rights reserved.
FAU - Panagopoulos, Ioannis
AU  - Panagopoulos I
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; 
      ioannis.panagopoulos@rr-research.no.
FAU - Andersen, Kristin
AU  - Andersen K
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
FAU - Gorunova, Ludmila
AU  - Gorunova L
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
FAU - Davidson, Ben
AU  - Davidson B
AD  - Department of Pathology, Oslo University Hospital, Oslo, Norway.
AD  - Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, 
      Norway.
FAU - Micci, Francesca
AU  - Micci F
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
FAU - Heim, Sverre
AU  - Heim S
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
AD  - Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, 
      Norway.
LA  - eng
PT  - Journal Article
PL  - Greece
TA  - In Vivo
JT  - In vivo (Athens, Greece)
JID - 8806809
RN  - 0 (MicroRNAs)
RN  - 0 (Nucleotides)
RN  - 0 (BNC2 protein, human)
RN  - 0 (DNA-Binding Proteins)
SB  - IM
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Leiomyoma/genetics
MH  - *Lipoma/pathology
MH  - Translocation, Genetic
MH  - Chromosome Aberrations
MH  - *Hamartoma/genetics
MH  - *MicroRNAs
MH  - Nucleotides
MH  - DNA-Binding Proteins/genetics
PMC - PMC9677776
OTO - NOTNLM
OT  - Uterine leiomyoma
OT  - chromosomal aberration
OT  - fusion transcript
OT  - high mobility group AT-hook 2 (HMGA2) gene
COIS- The Authors declare that they have no potential conflicts of interest.
EDAT- 2022/10/30 06:00
MHDA- 2022/11/02 06:00
PMCR- 2022/11/03
CRDT- 2022/10/29 20:42
PHST- 2022/08/24 00:00 [received]
PHST- 2022/09/12 00:00 [revised]
PHST- 2022/09/13 00:00 [accepted]
PHST- 2022/10/29 20:42 [entrez]
PHST- 2022/10/30 06:00 [pubmed]
PHST- 2022/11/02 06:00 [medline]
PHST- 2022/11/03 00:00 [pmc-release]
AID - 36/6/2654 [pii]
AID - 10.21873/invivo.13000 [doi]
PST - ppublish
SO  - In Vivo. 2022 Nov-Dec;36(6):2654-2661. doi: 10.21873/invivo.13000.