PMID- 32132020
OWN - NLM
STAT- MEDLINE
DCOM- 20200415
LR  - 20200415
IS  - 1791-7530 (Electronic)
IS  - 0250-7005 (Linking)
VI  - 40
IP  - 3
DP  - 2020 Mar
TI  - An Unbalanced Chromosome Translocation Between 7p22 and 12q13 Leads to ACTB-GLI1 
      Fusion in Pericytoma.
PG  - 1239-1245
LID - 10.21873/anticanres.14065 [doi]
AB  - BACKGROUND/AIM: Since the first description of five pericytomas with the 
      t(7;12)/ACTB-GLI1 fusion gene, only three new tumors were studied by both 
      cytogenetics and molecular techniques. We report here genetic data on another 
      case of this rare tumor. MATERIALS AND METHODS: Cytogenetic, fluorescence in situ 
      hybridization (FISH), reverse transcription polymerase chain reaction (RT-PCR), 
      and Sanger sequencing analyses were performed. RESULTS: The pericytoma carried 
      two structurally rearranged chromosomes: der(7)t(7;12)(p22;q13) and 
      der(12)t(1;12)(q12;q13). In FISH experiments with a break-apart probe for GLI1, 
      the distal part of the probe hybridized to der(7) whereas the proximal part to 
      der(12). RT-PCR and Sanger sequencing detected an ACTB-GLI1 fragment in which 
      exon 2 of ACTB was fused to exon 6 of GLI1. CONCLUSION: The ACTB-GLI1 fusion gene 
      was mapped at der(7)t(7;12)(p22;q13) and coded for a putative ACTB-GLI1 protein 
      in which the first 41 amino acid (aa) of ACTB replaced the first 177 aa of GLI1.
CI  - Copyright(c) 2020, 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 - 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 - Rise, Tor Vikan
AU  - Rise TV
AD  - Department of Pathology, St. Olavs Hospital, Trondheim University Hospital, 
      Trondheim, Norway.
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 - 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  - Case Reports
PT  - Journal Article
PL  - Greece
TA  - Anticancer Res
JT  - Anticancer research
JID - 8102988
RN  - 0 (Actins)
RN  - 0 (GLI1 protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Zinc Finger Protein GLI1)
SB  - IM
MH  - Actins/*genetics
MH  - Aged, 80 and over
MH  - Chromosomes, Human, Pair 12
MH  - Chromosomes, Human, Pair 7
MH  - Female
MH  - Humans
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Pericytes/*pathology
MH  - Soft Tissue Neoplasms/*genetics/pathology
MH  - Thigh/pathology
MH  - Translocation, Genetic
MH  - Zinc Finger Protein GLI1/*genetics
OTO - NOTNLM
OT  - ACTB-GLI1 fusion gene
OT  - GLI1 isoform 2 protein
OT  - Pericytoma
OT  - t(7;12)
OT  - unbalanced chromosome translocation
EDAT- 2020/03/07 06:00
MHDA- 2020/04/16 06:00
CRDT- 2020/03/06 06:00
PHST- 2020/01/23 00:00 [received]
PHST- 2020/02/02 00:00 [revised]
PHST- 2020/02/03 00:00 [accepted]
PHST- 2020/03/06 06:00 [entrez]
PHST- 2020/03/07 06:00 [pubmed]
PHST- 2020/04/16 06:00 [medline]
AID - 40/3/1239 [pii]
AID - 10.21873/anticanres.14065 [doi]
PST - ppublish
SO  - Anticancer Res. 2020 Mar;40(3):1239-1245. doi: 10.21873/anticanres.14065.