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BL1391 : an established cell line from a human malignant peripheral nerve sheath tumor with unique genomic features

Tolomeo, Doron (author)
University of Bari Aldo Moro
Agostini, Antonio (author)
Bari University Hospital
Macchia, Gemma (author)
University of Bari Aldo Moro
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L’Abbate, Alberto (author)
University of Bari Aldo Moro,CNR Istituto per le Tecnologie Applicate ai Beni Culturali (CNR-ITABC)
Severgnini, Marco (author)
CNR Institute for Biomedical Technologies (ITB-CNR)
Cifola, Ingrid (author)
CNR Institute for Biomedical Technologies (ITB-CNR)
Frassanito, Maria Antonia (author)
Bari University Hospital
Racanelli, Vito (author)
Bari University Hospital
Solimando, Antonio Giovanni (author)
Istituto Tumori 'Giovanni Paolo II',Bari University Hospital
Haglund, Felix (author)
Karolinska Institutet
Mertens, Fredrik (author)
Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Genetiska avvikelser i mjukdelstumörer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,The genetics of soft tissue tumors,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Skåne University Hospital
Storlazzi, Clelia Tiziana (author)
University of Bari Aldo Moro
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 (creator_code:org_t)
2020-08-27
2021
English.
In: Human Cell. - : Springer Science and Business Media LLC. - 0914-7470 .- 1749-0774. ; 34:1, s. 238-245
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive tumors, accounting for around 5% of all soft tissue sarcomas. A better understanding of the pathogenesis of these tumors and the development of effective treatments are needed. In this context, established tumor cell lines can be very informative, as they may be used for in-depth molecular analyses and improvement of treatment strategies. Here, we present the genomic and transcriptomic profiling analysis of a MPNST cell line (BL1391) that was spontaneously established in our laboratory from a primary tumor that had not been exposed to genotoxic treatment. This cell line shows peculiar genetic features, such as a large marker chromosome composed of high-copy number amplifications of regions from chromosomes 1 and 11 with an embedded neocentromere. Moreover, the transcriptome profiling revealed the presence of several fusion transcripts involving the CACHD1, TNMA4, MDM4, and YAP1 genes, all of which map to the amplified regions of the marker. BL1391 could be a useful tool to study genomic amplifications and neocentromere seeding in MPNSTs and to develop new therapeutic strategies.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

Keyword

Amplification
BL1391
Fusion transcript
MPNST
Neocentromere

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