BL1391: an established cell line from a human malignant peripheral nerve sheath tumor with unique genomic features
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CELL LINE
BL1391: an established cell line from a human malignant peripheral nerve sheath tumor with unique genomic features Doron Tolomeo1 · Antonio Agostini2 · Gemma Macchia1 · Alberto L’Abbate1,7 · Marco Severgnini3 · Ingrid Cifola3 · Maria Antonia Frassanito2 · Vito Racanelli2 · Antonio Giovanni Solimando2,4 · Felix Haglund5 · Fredrik Mertens6 · Clelia Tiziana Storlazzi1 Received: 1 July 2020 / Accepted: 17 August 2020 © Japan Human Cell Society 2020
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 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. Keywords MPNST · Neocentromere · BL1391 · Amplification · Fusion transcript
Introduction Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas [1]. Half of them arise in individuals with neurofibromatosis type 1 (NF1) caused by Doron Tolomeo and Antonio Agostini are contributing first authors. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s13577-020-00418-7) contains supplementary material, which is available to authorized users. * Clelia Tiziana Storlazzi [email protected] 1
Department of Biology, University of Bari “Aldo Moro”, Via G. Orabona no. 4, 70125 Bari, Italy
Department of Biomedical Sciences and Human Oncology, Unit of Internal Medicine “Guido Baccelli”, University of Bari Medical School, Piazza Giulio Cesare 11, 70124 Bari, Italy
2
3
Institute for Biomedical Technologies, National Research Council (ITB-CNR), Segrate, 20090 Milan, Italy
germline mutations in the NF1 gene. MPNSTs often show NF1 biallelic inactivation in both NF1 patients and sporadic cases [2]. However, other routes to MPNST development were described, such as TP53 and PTEN loss of function, and upregulation of MAPK [2]. The outcome for MPNST patients is still relatively poor [3], making new therapies necessary. In this context, tumor cell lines are very useful, allowing detailed investigations. More than 20 cell lines from
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