An Unbalanced Chromosome Translocation Between 7p22 and 12q13 Leads to ACTB-GLI1 Fusion in Pericytoma.

Abstract:

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.

journal_name

Anticancer Res

journal_title

Anticancer research

authors

Panagopoulos I,Gorunova L,Rise TV,Andersen K,Micci F,Heim S

doi

10.21873/anticanres.14065

subject

Has Abstract

pub_date

2020-03-01 00:00:00

pages

1239-1245

issue

3

eissn

0250-7005

issn

1791-7530

pii

40/3/1239

journal_volume

40

pub_type

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