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Understanding the evolving phenotype of vascular complications in telomere biology disorders

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Abstract

Vascular complications such as bleeding due to gastrointestinal telangiectatic anomalies, pulmonary arteriovenous malformations, hepatopulmonary syndrome, and retinal vessel abnormalities are being reported in patients with telomere biology disorders (TBDs) more frequently than previously described. The international clinical care consortium of telomere-associated ailments and family support group Dyskeratosis Congenita Outreach, Inc. held a workshop on vascular abnormalities in the TBDs at the National Cancer Institute in October 2017. Clinicians and basic scientists reviewed current data on vascular complications, hypotheses for the underlying biology and developed new collaborations to address the etiology and clinical management of vascular complications in TBDs.

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Acknowledgements

We would like to thank all workshop participants for attending and participating in this highly informative and collaborative meeting. The workshop was funded by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, and by Dyskeratosis Congenita Outreach, Inc., the Translational Research Program (Boston Children’s Hospital) and Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and Texas Children’s Cancer and Hematology Centers.

Author information

Authors and Affiliations

  1. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, 6E456, Bethesda, MD, 20892-6772, USA

    Cecilia Higgs, Blanche P. Alter, Sonia Bhala, Neelam Giri, Payal P. Khincha, Lisa J. McReynolds & Sharon A. Savage

  2. UKMRC Institute of Genetic and Molecular Medicine, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, UK

    Yanick J. Crow

  3. Division of Hematology/Oncology, Vascular Anomalies Center, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Denise M. Adams

  4. Retina and Vitreous of Texas, Houston, TX, USA

    Emmanuel Chang

  5. Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA

    Emmanuel Chang

  6. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA

    Don Hayes Jr.

  7. Section of Pulmonary Medicine, Nationwide Children’s Hospital Columbus, Columbus, OH, USA

    Don Hayes Jr.

  8. Department of Microbiology, Biochemistry and Molecular Genetics, New Jersey Medical School-Cancer Center, Rutgers Biomedical and Health Sciences, 205 South Orange Avenue, Newark, NJ, USA

    Utz Herbig

  9. Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, and UCSF Benioff Children’s Hospital, San Francisco, CA, USA

    James N. Huang & Tiffany F. Lin

  10. Division of Gastroenterology, Hepatology and Nutrition, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX, USA

    Ryan Himes

  11. Division of Gastroenterology, Hepatology and Endoscopy, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA

    Kunal Jajoo

  12. Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

    F. Brad Johnson

  13. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA

    Susan D. Reynolds

  14. Center for Perinatal Research, Nationwide Children’s Hospital, Columbus, OH, USA

    Susan D. Reynolds

  15. Department of Ophthalmology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Yoshihiro Yonekawa

  16. Retina Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA

    Yoshihiro Yonekawa

  17. Departments of Oncology, McKusick-Nathans Institute of Genetic Medicine, Sidney Kimmel Comprehensive Cancer Center and Telomere Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Mary Armanios

  18. Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA

    Farid Boulad & Michael Walsh

  19. Departments of Leukemia, University of Texas, MD Anderson Cancer Center, Houston, USA

    Courtney D. DiNardo

  20. Hematology Unit, Istituto Giannina Gaslini, Genoa, Italy

    Carlo Dufour

  21. Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA

    Frederick D. Goldman

  22. Division of Pediatric Hematology Oncology, Department of Pediatrics, Mayo Clinic, Rochester, MN, USA

    Shakila Khan

  23. Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany

    Christian Kratz

  24. Division of Blood and Marrow Transplantation and Immune Deficiency, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Kasiani C. Myers & Adam Nelson

  25. Center for Interstitial Lung Diseases, University of Washington, Seattle, WA, USA

    Ganesh Raghu

  26. Terry Fox Laboratory, BC Cancer, Vancouver, BC, Canada

    Geraldine Aubert

  27. Repeat Diagnostics, North Vancouver, BC, Canada

    Geraldine Aubert

  28. Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA

    Edward W. Cowen

  29. Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada

    Yigal Dror

  30. Marrow Failure and Myelodysplasia Program, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada

    Yigal Dror

  31. Institute of Medical Sciences, University of Toronto, Toronto, ON, Canada

    Yigal Dror

  32. Division of Pediatric Gastroenterology Hepatology and Nutrition, Mayo Clinic, Rochester, MN, USA

    Mounif El-Youssef

  33. Dyskeratosis Congenita Outreach, Inc., New York, NY, USA

    Bruce Friedman, Lisa Helms Guba & Katherine Stevens

  34. Dyskeratosis Congenita Action, London, and Addenbrooke’s Hospital, Cambridge University Hospitals, Cambridge, UK

    Hilary Longhurst

  35. Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Tim Olson

  36. Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA

    Anne Pariser

  37. Instituto de Investigaciones Biomédicas CSIC/UAM, 28029, Madrid, Spain

    Rosario Perona

  38. Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain

    Rosario Perona

  39. Center for Cell and Gene Therapy, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX, USA

    Ghadir Sasa

  40. Departments of Pediatrics and Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Kristen Schratz

  41. Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA

    Douglas A. Simonetto

  42. Hematopoiesis and Bone Marrow Failure Laboratory, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA

    Danielle Townsley

  43. Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Suneet Agarwal

  44. Department of Pediatrics, Hematology/Oncology, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX, USA

    Alison A. Bertuch

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  1. Cecilia Higgs
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  2. Yanick J. Crow
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  14. Farid Boulad
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  15. Courtney D. DiNardo
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  17. Frederick D. Goldman
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  18. Shakila Khan
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  20. Kasiani C. Myers
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  27. Mounif El-Youssef
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  28. Bruce Friedman
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  31. Payal P. Khincha
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the Clinical Care Consortium for Telomere-associated Ailments (CCCTAA)

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Correspondence to Sharon A. Savage.

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Higgs, C., Crow, Y.J., Adams, D.M. et al. Understanding the evolving phenotype of vascular complications in telomere biology disorders. Angiogenesis 22, 95–102 (2019). https://doi.org/10.1007/s10456-018-9640-7

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  • DOI: https://doi.org/10.1007/s10456-018-9640-7

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