TY - JOUR
T1 - BL1391
T2 - an established cell line from a human malignant peripheral nerve sheath tumor with unique genomic features
AU - Tolomeo, Doron
AU - Agostini, Antonio
AU - Macchia, Gemma
AU - L’Abbate, Alberto
AU - Severgnini, Marco
AU - Cifola, Ingrid
AU - Frassanito, Maria Antonia
AU - Racanelli, Vito
AU - Solimando, Antonio Giovanni
AU - Haglund, Felix
AU - Mertens, Fredrik
AU - Storlazzi, Clelia Tiziana
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - Amplification
KW - BL1391
KW - Fusion transcript
KW - MPNST
KW - Neocentromere
U2 - 10.1007/s13577-020-00418-7
DO - 10.1007/s13577-020-00418-7
M3 - Article
C2 - 32856169
AN - SCOPUS:85089992662
SN - 0914-7470
VL - 34
SP - 238
EP - 245
JO - Human Cell
JF - Human Cell
IS - 1
ER -
