Sarcoma articles within Nature Communications

Featured

• Article
  10 January 2018 | Open Access

  Integrative genomic and transcriptomic analysis of leiomyosarcoma

  The molecular genetic landscape of leiomyosarcoma (LMS) is largely unknown. Here, the authors identify frequent DNA copy number alterations, whole-genome duplication, TP53 and RB1 inactivation, alternative telomere lengthening, and genomic imprints of defective DNA repair via homologous recombination as a potential therapeutic target in LMS patients.

  • Priya Chudasama
  • , Sadaf S. Mughal
  •  & Stefan Fröhling

• Article
  10 July 2017 | Open Access

  Generation and comparison of CRISPR-Cas9 and Cre-mediated genetically engineered mouse models of sarcoma

  Site-specific recombination and CRISPR-Cas9 have been used to generate genetically engineered mouse models of cancer. Here the authors compare sarcomas generated using both systems and see similar genetic and cellular phenotypes, suggesting CRISPR-Cas9 can be used to rapidly generate sarcoma models.

  • Jianguo Huang
  • , Mark Chen
  •  & David G. Kirsch

• Article
  08 March 2017 | Open Access

  MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation

  In gastrointestinal stromal tumours early mutations in known genes are frequently followed by chromosome 14q deletion. Here the authors find mutations resulting in loss of MAX protein expression conserved between primary tumours and metastases in the same patients, suggesting thatMAXmutation is an early event.

  • Inga-Marie Schaefer
  • , Yuexiang Wang
  •  & Jonathan A. Fletcher

• Article
  31 August 2016 | Open Access

  TP53 mutations emerge with HDM2 inhibitor SAR405838 treatment in de-differentiated liposarcoma

  Pre-clinical studies have shown that TP53 mutations can account for acquired resistance to HDM2 antagonists. This study provides clinical evidence for the emergence of TP53mutations in circulating cell-free DNA, seen in 5 out of 20 de-differentiated liposarcoma patients treated with an HDM2 antagonist.

  • Joonil Jung
  • , Joon Sang Lee
  •  & James Watters

• Article
  03 February 2016 | Open Access

  Epigenetic re-expression of HIF-2α suppresses soft tissue sarcoma growth

  Hypoxia is a common feature of soft tissue sarcomas, resulting in the activation of HIF-1α, which promotes metastasis. Here, Nakazawa et al. show that paradoxically HIF-2α is epigenetically silenced during the progression of multiple sarcoma subtypes, and when reexpressed, blocks tumour growth in vivo.

  • Michael S. Nakazawa
  • , T. S. Karin Eisinger-Mathason
  •  & M. Celeste Simon

• Article
  25 September 2015 | Open Access

  A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families

  Genetic factors that cause cardiac angiosarcoma are unknown. Calveteet al. show that a missense mutation in protection of telomeres1 (POT1) gene causes cardiac angiosarcoma by affecting the POT1 function and, consequently, telomere length and stability.

  • Oriol Calvete
  • , Paula Martinez
  •  & Javier Benítez

• Article
  03 July 2015 | Open Access

  Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma

  Rhabdomyosarcoma is a common childhood soft-tissue cancer. Here Seki and Nishimura analyse the exome, transcriptome, copy number and DNA methylome of 60 sarcomas and identify distinct methylation subgroups associated with genetic and clinical features.

  • Masafumi Seki
  • , Riki Nishimura
  •  & Junko Takita

• Article | 23 October 2013

  Rb1 family mutation is sufficient for sarcoma initiation

  Loss of the tumour suppressor Rb1 alone is thought to be insufficient for tumorigenesis. In this study, Liu et al. demonstrate that cells in which all three Rb1 family members are inactivated can initiate tumour formation, but only if cell survival is ensured by the retention of cell–cell contacts.

  • Yongqing Liu
  • , Ester Sánchez-Tilló
  •  & Douglas C. Dean