Understanding the evolving phenotype of vascular complications in telomere biology disorders

Cecilia Higgs¹, Yanick J Crow², Denise M Adams³, Emmanuel Chang^{4

5}, Don Hayes Jr^{6

7}, Utz Herbig⁸, James N Huang⁹, Ryan Himes¹⁰, Kunal Jajoo¹¹, F Brad Johnson¹², Susan D Reynolds^{6

13}, Yoshihiro Yonekawa^{14

15}, Mary Armanios¹⁶, Farid Boulad¹⁷, Courtney D DiNardo¹⁸, Carlo Dufour¹⁹, Frederick D Goldman²⁰, Shakila Khan²¹, Christian Kratz²², Kasiani C Myers²³, Ganesh Raghu²⁴, Blanche P Alter¹, Geraldine Aubert^{25

26}, Sonia Bhala¹, Edward W Cowen²⁷, Yigal Dror^{28

29

30}, Mounif El-Youssef³¹, Bruce Friedman³², Neelam Giri¹, Lisa Helms Guba³², Payal P Khincha¹, Tiffany F Lin⁹, Hilary Longhurst³³, Lisa J McReynolds¹, Adam Nelson²³, Tim Olson³⁴, Anne Pariser³⁵, Rosario Perona^{36

37}, Ghadir Sasa³⁸, Kristen Schratz³⁹, Douglas A Simonetto⁴⁰, Danielle Townsley⁴¹, Michael Walsh¹⁷, Katherine Stevens³², Suneet Agarwal⁴², Alison A Bertuch⁴³, Sharon A Savage⁴⁴; Clinical Care Consortium for Telomere-associated Ailments (CCCTAA)

Affiliations

¹ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, 6E456, Bethesda, MD, 20892-6772, USA.
² UKMRC Institute of Genetic and Molecular Medicine, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, UK.
³ Division of Hematology/Oncology, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
⁴ Retina and Vitreous of Texas, Houston, TX, USA.
⁵ Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA.
⁶ Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
⁷ Section of Pulmonary Medicine, Nationwide Children's Hospital Columbus, Columbus, OH, USA.
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.
⁹ Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, and UCSF Benioff Children's Hospital, San Francisco, CA, USA.
¹⁰ Division of Gastroenterology, Hepatology and Nutrition, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
¹¹ Division of Gastroenterology, Hepatology and Endoscopy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
¹² Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
¹³ Center for Perinatal Research, Nationwide Children's Hospital, Columbus, OH, USA.
¹⁴ Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
¹⁵ Retina Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
¹⁶ 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.
¹⁷ Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
¹⁸ Departments of Leukemia, University of Texas, MD Anderson Cancer Center, Houston, USA.
¹⁹ Hematology Unit, Istituto Giannina Gaslini, Genoa, Italy.
²⁰ Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.
²¹ Division of Pediatric Hematology Oncology, Department of Pediatrics, Mayo Clinic, Rochester, MN, USA.
²² Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
²³ Division of Blood and Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
²⁴ Center for Interstitial Lung Diseases, University of Washington, Seattle, WA, USA.
²⁵ Terry Fox Laboratory, BC Cancer, Vancouver, BC, Canada.
²⁶ Repeat Diagnostics, North Vancouver, BC, Canada.
²⁷ Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
²⁸ Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
²⁹ Marrow Failure and Myelodysplasia Program, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
³⁰ Institute of Medical Sciences, University of Toronto, Toronto, ON, Canada.
³¹ Division of Pediatric Gastroenterology Hepatology and Nutrition, Mayo Clinic, Rochester, MN, USA.
³² Dyskeratosis Congenita Outreach, Inc., New York, NY, USA.
³³ Dyskeratosis Congenita Action, London, and Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.
³⁴ Children's Hospital of Philadelphia, Philadelphia, PA, USA.
³⁵ Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
³⁶ Instituto de Investigaciones Biomédicas CSIC/UAM, 28029, Madrid, Spain.
³⁷ Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
³⁸ Center for Cell and Gene Therapy, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
³⁹ Departments of Pediatrics and Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁴⁰ Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA.
⁴¹ Hematopoiesis and Bone Marrow Failure Laboratory, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
⁴² Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
⁴³ Department of Pediatrics, Hematology/Oncology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
⁴⁴ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, 6E456, Bethesda, MD, 20892-6772, USA. savagesh@mail.nih.gov.

PMID: 30168024
DOI: 10.1007/s10456-018-9640-7

Free article

Review

Understanding the evolving phenotype of vascular complications in telomere biology disorders

Cecilia Higgs et al. Angiogenesis. 2019 Feb.

Free article

. 2019 Feb;22(1):95-102.

doi: 10.1007/s10456-018-9640-7. Epub 2018 Aug 25.

Authors

Affiliations

¹ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, 6E456, Bethesda, MD, 20892-6772, USA.
² UKMRC Institute of Genetic and Molecular Medicine, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, UK.
³ Division of Hematology/Oncology, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
⁴ Retina and Vitreous of Texas, Houston, TX, USA.
⁵ Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA.
⁶ Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
⁷ Section of Pulmonary Medicine, Nationwide Children's Hospital Columbus, Columbus, OH, USA.
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.
⁹ Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, and UCSF Benioff Children's Hospital, San Francisco, CA, USA.
¹⁰ Division of Gastroenterology, Hepatology and Nutrition, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
¹¹ Division of Gastroenterology, Hepatology and Endoscopy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
¹² Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
¹³ Center for Perinatal Research, Nationwide Children's Hospital, Columbus, OH, USA.
¹⁴ Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
¹⁵ Retina Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
¹⁶ 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.
¹⁷ Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
¹⁸ Departments of Leukemia, University of Texas, MD Anderson Cancer Center, Houston, USA.
¹⁹ Hematology Unit, Istituto Giannina Gaslini, Genoa, Italy.
²⁰ Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.
²¹ Division of Pediatric Hematology Oncology, Department of Pediatrics, Mayo Clinic, Rochester, MN, USA.
²² Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
²³ Division of Blood and Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
²⁴ Center for Interstitial Lung Diseases, University of Washington, Seattle, WA, USA.
²⁵ Terry Fox Laboratory, BC Cancer, Vancouver, BC, Canada.
²⁶ Repeat Diagnostics, North Vancouver, BC, Canada.
²⁷ Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
²⁸ Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
²⁹ Marrow Failure and Myelodysplasia Program, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
³⁰ Institute of Medical Sciences, University of Toronto, Toronto, ON, Canada.
³¹ Division of Pediatric Gastroenterology Hepatology and Nutrition, Mayo Clinic, Rochester, MN, USA.
³² Dyskeratosis Congenita Outreach, Inc., New York, NY, USA.
³³ Dyskeratosis Congenita Action, London, and Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.
³⁴ Children's Hospital of Philadelphia, Philadelphia, PA, USA.
³⁵ Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
³⁶ Instituto de Investigaciones Biomédicas CSIC/UAM, 28029, Madrid, Spain.
³⁷ Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
³⁸ Center for Cell and Gene Therapy, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
³⁹ Departments of Pediatrics and Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁴⁰ Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA.
⁴¹ Hematopoiesis and Bone Marrow Failure Laboratory, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
⁴² Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
⁴³ Department of Pediatrics, Hematology/Oncology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
⁴⁴ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, 6E456, Bethesda, MD, 20892-6772, USA. savagesh@mail.nih.gov.

PMID: 30168024
DOI: 10.1007/s10456-018-9640-7

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.

Keywords: Consortium; Dyskeratosis congenita; Telomere; Vascular biology.

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Understanding the evolving phenotype of vascular complications in telomere biology disorders

Affiliations

Understanding the evolving phenotype of vascular complications in telomere biology disorders

Authors

Affiliations

Abstract

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Supplementary concepts

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