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Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas

Author

Listed:
  • Lauren Fishbein

    (Diabetes and Metabolism, Perelman School of Medicine at the University of Pennsylvania)

  • Sanika Khare

    (Perelman School of Medicine at the University of Pennsylvania)

  • Bradley Wubbenhorst

    (Perelman School of Medicine at the University of Pennsylvania)

  • Daniel DeSloover

    (Perelman School of Medicine at the University of Pennsylvania
    Center for Personalized Diagnostics, University of Pennsylvania)

  • Kurt D’Andrea

    (Perelman School of Medicine at the University of Pennsylvania)

  • Shana Merrill

    (Perelman School of Medicine at the University of Pennsylvania)

  • Nam Woo Cho

    (University of Pennsylvania)

  • Roger A. Greenberg

    (University of Pennsylvania
    Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania)

  • Tobias Else

    (Endocrinology and Diabetes, University of Michigan Health System)

  • Kathleen Montone

    (Perelman School of Medicine at the University of Pennsylvania)

  • Virginia LiVolsi

    (Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania
    Perelman School of Medicine at the University of Pennsylvania)

  • Douglas Fraker

    (Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania
    Perelman School of Medicine at the University of Pennsylvania)

  • Robert Daber

    (Center for Personalized Diagnostics, University of Pennsylvania
    Perelman School of Medicine at the University of Pennsylvania)

  • Debbie L. Cohen

    (Perelman School of Medicine at the University of Pennsylvania)

  • Katherine L. Nathanson

    (Perelman School of Medicine at the University of Pennsylvania
    Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania)

Abstract

Pheochromocytomas and paragangliomas (PCC/PGL) are the solid tumour type most commonly associated with an inherited susceptibility syndrome. However, very little is known about the somatic genetic changes leading to tumorigenesis or malignant transformation. Here we perform whole-exome sequencing on a discovery set of 21 PCC/PGL and identify somatic ATRX mutations in two SDHB-associated tumours. Targeted sequencing of a separate validation set of 103 PCC/PGL identifies somatic ATRX mutations in 12.6% of PCC/PGL. PCC/PGL with somatic ATRX mutations are associated with alternative lengthening of telomeres and clinically aggressive behaviour. This finding suggests that loss of ATRX, an SWI/SNF chromatin remodelling protein, is important in the development of clinically aggressive PCC/PGL.

Suggested Citation

  • Lauren Fishbein & Sanika Khare & Bradley Wubbenhorst & Daniel DeSloover & Kurt D’Andrea & Shana Merrill & Nam Woo Cho & Roger A. Greenberg & Tobias Else & Kathleen Montone & Virginia LiVolsi & Douglas, 2015. "Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas," Nature Communications, Nature, vol. 6(1), pages 1-6, May.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms7140
    DOI: 10.1038/ncomms7140
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    Cited by:

    1. Bruna Calsina & Elena Piñeiro-Yáñez & Ángel M. Martínez-Montes & Eduardo Caleiras & Ángel Fernández-Sanromán & María Monteagudo & Rafael Torres-Pérez & Coral Fustero-Torre & Marta Pulgarín-Alfaro & Ed, 2023. "Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma," Nature Communications, Nature, vol. 14(1), pages 1-20, December.

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