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

Tolomeo, Doron ; Agostini, Antonio ; Macchia, Gemma ; L’Abbate, Alberto ; Severgnini, Marco ; Cifola, Ingrid ; Frassanito, Maria Antonia ; Racanelli, Vito ; Solimando, Antonio Giovanni and Haglund, Felix , et al. (2021) In Human Cell 34(1). p.238-245
Abstract

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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Amplification, BL1391, Fusion transcript, MPNST, Neocentromere
in
Human Cell
volume
34
issue
1
pages
238 - 245
publisher
Springer
external identifiers
  • scopus:85089992662
  • pmid:32856169
ISSN
0914-7470
DOI
10.1007/s13577-020-00418-7
language
English
LU publication?
yes
id
7f36a752-6eff-4d0c-ada8-8e42637fbebc
date added to LUP
2020-09-25 14:46:05
date last changed
2021-04-06 01:03:43
@article{7f36a752-6eff-4d0c-ada8-8e42637fbebc,
  abstract     = {<p>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.</p>},
  author       = {Tolomeo, Doron and Agostini, Antonio and Macchia, Gemma and L’Abbate, Alberto and Severgnini, Marco and Cifola, Ingrid and Frassanito, Maria Antonia and Racanelli, Vito and Solimando, Antonio Giovanni and Haglund, Felix and Mertens, Fredrik and Storlazzi, Clelia Tiziana},
  issn         = {0914-7470},
  language     = {eng},
  number       = {1},
  pages        = {238--245},
  publisher    = {Springer},
  series       = {Human Cell},
  title        = {BL1391 : an established cell line from a human malignant peripheral nerve sheath tumor with unique genomic features},
  url          = {http://dx.doi.org/10.1007/s13577-020-00418-7},
  doi          = {10.1007/s13577-020-00418-7},
  volume       = {34},
  year         = {2021},
}