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

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift


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.


  • Doron Tolomeo
  • Antonio Agostini
  • Gemma Macchia
  • Alberto L’Abbate
  • Marco Severgnini
  • Ingrid Cifola
  • Maria Antonia Frassanito
  • Vito Racanelli
  • Antonio Giovanni Solimando
  • Felix Haglund
  • Fredrik Mertens
  • Clelia Tiziana Storlazzi
Enheter & grupper
Externa organisationer
  • University of Bari Aldo Moro
  • Bari University Hospital
  • Istituto per le Tecnologie Applicate ai Beni Culturali (CNR-ITABC)
  • Institute for Biomedical Technologies
  • Istituto Tumori 'Giovanni Paolo II'
  • Karolinska University Hospital
  • Skåne University Hospital

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Cancer och onkologi


TidskriftHuman Cell
StatusE-pub ahead of print - 2020 aug 27
Peer review utfördJa