PMID- 36870688
OWN - NLM
STAT- MEDLINE
DCOM- 20230307
LR  - 20230309
IS  - 1790-6245 (Electronic)
IS  - 1109-6535 (Print)
IS  - 1109-6535 (Linking)
VI  - 20
IP  - 2
DP  - 2023 Mar-Apr
TI  - Recurrent 8q11-13 Aberrations Leading to PLAG1 Rearrangements, Including Novel 
      Chimeras HNRNPA2B1::PLAG1 and SDCBP::PLAG1, in Lipomatous Tumors.
PG  - 171-181
LID - 10.21873/cgp.20372 [doi]
AB  - BACKGROUND/AIM: Structural abnormalities of chromosome bands 8q11-13, resulting 
      in rearrangement of the pleomorphic adenoma gene 1 (PLAG1), are known to 
      characterize lipoblastoma, a benign fat cell tumor, found mainly in children. 
      Here, we describe 8q11-13 rearrangements and their molecular consequences on 
      PLAG1 in 7 lipomatous tumors in adults. MATERIALS AND METHODS: The patients were 
      5 males and 2 females between 23 and 62 years old. The tumors, namely five 
      lipomas, one fibrolipoma and one spindle cell lipoma, were examined using 
      G-banding with karyotyping, fluorescence in situ hybridization (FISH; three 
      tumors), RNA sequencing, reverse transcription (RT) PCR, and Sanger sequencing 
      analyses (two tumors). RESULTS: All 7 tumors had karyotypic aberrations which 
      included rearrangements of chromosome bands 8q11-13 (the criterion for selection 
      into this study). FISH analyses with a PLAG1 break apart probe showed abnormal 
      hybridization signals in both interphase nuclei and on metaphase spreads 
      indicating PLAG1 rearrangement. RNA sequencing detected fusion between exon 1 of 
      heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1) and exon 2 or 3 of 
      PLAG1 in a lipoma and fusion between exon 2 of syndecan binding protein (SDCBP) 
      and exon 2 or 3 of PLAG1 in a spindle cell lipoma. The HNRNPA2B1::PLAG1 and 
      SDCBP::PLAG1 fusion transcripts were confirmed using RT-PCR/Sanger sequencing 
      analyses. CONCLUSION: As 8q11-13 aberrations/PLAG1-rearrangements/PLAG1-chimeras 
      may evidently be a defining pathogenetic feature of lipogenic neoplasms of 
      several histological types and not just lipoblastomas, we suggest that the term 
      "8q11-13/PLAG1-rearranged lipomatous tumors" be generally adopted for this tumor 
      subset.
CI  - Copyright (c) 2023, 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 - Lund-Iversen, Marius
AU  - Lund-Iversen M
AD  - Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, 
      Oslo, Norway.
FAU - Lobmaier, Ingvild
AU  - Lobmaier I
AD  - Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, 
      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.
LA  - eng
PT  - Journal Article
PL  - Greece
TA  - Cancer Genomics Proteomics
JT  - Cancer genomics & proteomics
JID - 101188791
RN  - 0 (SDCBP protein, human)
RN  - 0 (Syntenins)
RN  - 0 (PLAG1 protein, human)
RN  - 0 (DNA-Binding Proteins)
SB  - IM
MH  - Humans
MH  - Female
MH  - Male
MH  - In Situ Hybridization, Fluorescence
MH  - Exons
MH  - *Lipoma
MH  - Adipocytes
MH  - Cell Nucleus
MH  - Syntenins
MH  - DNA-Binding Proteins
PMC - PMC9989671
OTO - NOTNLM
OT  - Chromosome band 8q11-13
OT  - HNRNPA2B1::PLAG1
OT  - PLAG1 fusion genes
OT  - SDCBP::PLAG1
OT  - lipoblastoma
OT  - lipoma
OT  - lipomatous tumors
OT  - pleomorphic adenoma gene 1
COIS- The Authors declare that they have no potential conflicts of interest in regard 
      to this study.
EDAT- 2023/03/05 06:00
MHDA- 2023/03/08 06:00
PMCR- 2023/03/03
CRDT- 2023/03/04 20:42
PHST- 2022/12/14 00:00 [received]
PHST- 2023/01/04 00:00 [revised]
PHST- 2023/01/17 00:00 [accepted]
PHST- 2023/03/04 20:42 [entrez]
PHST- 2023/03/05 06:00 [pubmed]
PHST- 2023/03/08 06:00 [medline]
PHST- 2023/03/03 00:00 [pmc-release]
AID - 20/2/171 [pii]
AID - 10.21873/cgp.20372 [doi]
PST - ppublish
SO  - Cancer Genomics Proteomics. 2023 Mar-Apr;20(2):171-181. doi: 10.21873/cgp.20372.