Understanding the evolving phenotype of vascular complications in telomere biology disorders

被引：45

作者：

Higgs, Cecilia ^{[1
]}

Crow, Yanick J. ^{[2
]}

Adams, Denise M. ^{[3
]}

Chang, Emmanuel ^{[4
,5
]}

Hayes, Don, Jr. ^{[6
,7
]}

Herbig, Utz ^{[8
]}

Huang, James N. ^{[9
,10
]}

Himes, Ryan ^{[11
]}

Jajoo, Kunal ^{[12
]}

Johnson, F. Brad ^{[13
]}

Reynolds, Susan D. ^{[14
,15
]}

Yonekawa, Yoshihiro ^{[16
,17
]}

Armanios, Mary ^{[18
,19
]}

Boulad, Farid ^{[20
]}

DiNardo, Courtney D. ^{[21
]}

Dufour, Carlo ^{[22
]}

Goldman, Frederick D. ^{[23
]}

Khan, Shakila ^{[24
]}

Kratz, Christian ^{[25
]}

Myers, Kasiani C. ^{[26
]}

Raghu, Ganesh ^{[27
]}

Alter, Blanche P. ^{[1
]}

Aubert, Geraldine ^{[28
,29
]}

Bhala, Sonia ^{[1
]}

Cowen, Edward W. ^{[30
]}

Dror, Yigal ^{[31
,32
,33
]}

El-Youssef, Mounif ^{[34
]}

Friedman, Bruce ^{[35
]}

Giri, Neelam ^{[1
]}

Helms Guba, Lisa ^{[35
]}

Khincha, Payal P. ^{[1
]}

Lin, Tiffany F. ^{[9
,10
]}

Longhurst, Hilary ^{[36
,37
]}

McReynolds, Lisa J. ^{[1
]}

Nelson, Adam ^{[26
]}

Olson, Tim ^{[38
]}

Pariser, Anne ^{[39
]}

Perona, Rosario ^{[40
,41
]}

Sasa, Ghadir ^{[42
]}

Schratz, Kristen ^{[43
,44
]}

Simonetto, Douglas A. ^{[45
]}

Townsley, Danielle ^{[46
]}

Walsh, Michael ^{[20
]}

Stevens, Katherine ^{[35
]}

Agarwal, Suneet ^{[47
]}

Bertuch, Alison A. ^{[48
]}

Savage, Sharon A. ^{[1
]}

机构：

[1] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr,6E456, Bethesda, MD 20892 USA

[2] Univ Edinburgh, Ctr Genom & Expt Med, UKMRC Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland

[3] Harvard Med Sch, Boston Childrens Hosp, Vasc Anomalies Ctr, Div Hematol Oncol, Boston, MA USA

[4] Retina & Vitreous Texas, Houston, TX USA

[5] Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA

[6] Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USA

[7] Nationwide Childrens Hosp Columbus, Sect Pulm Med, Columbus, OH USA

[8] Rutgers Biomed & Hlth Sci, New Jersey Med Sch, Canc Ctr, Dept Microbiol Biochem & Mol Genet, 205 South Orange Ave, Newark, NJ USA

[9] Univ Calif San Francisco, Dept Pediat, Div Pediat Hematol Oncol, San Francisco, CA USA

[10] UCSF Benioff Childrens Hosp, San Francisco, CA USA

[11] Texas Childrens Hosp, Baylor Coll Med, Div Gastroenterol Hepatol & Nutr, Houston, TX 77030 USA

[12] Harvard Med Sch, Brigham & Womens Hosp, Div Gastroenterol Hepatol & Endoscopy, Boston, MA USA

[13] Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA USA

[14] Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USA

[15] Nationwide Childrens Hosp, Ctr Perinatal Res, Columbus, OH USA

[16] Harvard Med Sch, Boston Childrens Hosp, Dept Ophthalmol, Boston, MA USA

[17] Harvard Med Sch, Massachusetts Eye & Ear Infirm, Retina Serv, Boston, MA USA

[18] Johns Hopkins Univ, Sch Med, Sidney Kimmel Comprehens Canc Ctr, Dept Oncol,McKusick Nathans Inst Genet Med, Baltimore, MD USA

[19] Johns Hopkins Univ, Sch Med, Telomere Ctr, Baltimore, MD USA

[20] Mem Sloan Kettering Canc Ctr, Dept Pediat, 1275 York Ave, New York, NY 10021 USA

[21] Univ Texas MD Anderson Canc Ctr, Dept Leukemia, Houston, TX 77030 USA

[22] Ist Giannina Gaslini, Hematol Unit, Genoa, Italy

[23] Univ Alabama Birmingham, Dept Pediat, Birmingham, AL USA

[24] Mayo Clin, Dept Pediat, Div Pediat Hematol Oncol, Rochester, MN USA

[25] Hannover Med Sch, Pediat Hematol & Oncol, Hannover, Germany

[26] Cincinnati Childrens Hosp Med Ctr, Div Blood & Marrow Transplantat & Immune Deficien, Cincinnati, OH 45229 USA

[27] Univ Washington, Ctr Interstitial Lung Dis, Seattle, WA 98195 USA

[28] BC Canc, Terry Fox Lab, Vancouver, BC, Canada

[29] Repeat Diagnost, N Vancouver, BC, Canada

[30] NIAMSD, Dermatol Branch, NIH, Bethesda, MD 20892 USA

[31] Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada

[32] Hosp Sick Children, Dept Pediat, Div Hematol Oncol, Marrow Failure & Myelodysplasia Program, Toronto, ON, Canada

[33] Univ Toronto, Inst Med Sci, Toronto, ON, Canada

[34] Mayo Clin, Div Pediat Gastroenterol Hepatol & Nutr, Rochester, MN USA

[35] Dyskeratosis Congenita Outreach Inc, New York, NY USA

[36] Dyskeratosis Congenita Act, London, England

[37] Cambridge Univ Hosp, Addenbrookes Hosp, Cambridge, England

[38] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA

[39] Natl Ctr Adv Translat Sci, Off Rare Dis Res, NIH, Bethesda, MD USA

[40] UAM, CSIC, Inst Invest Biomed, Madrid 28029, Spain

[41] Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain

[42] Texas Childrens Hosp, Baylor Coll Med, Ctr Cell & Gene Therapy, Houston, TX 77030 USA

[43] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

[44] Johns Hopkins Univ, Sch Med, Dept Oncol, Baltimore, MD 21205 USA

[45] Mayo Clin, Div Gastroenterol & Hepatol, Rochester, MN USA

[46] NHLBI, Hematopoiesis & Bone Marrow Failure Lab, NIH, Bldg 10, Bethesda, MD 20892 USA

[47] Harvard Med Sch, Boston Childrens Hosp, Div Hematol Oncol, Boston, MA USA

[48] Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Hematol Oncol, Houston, TX 77030 USA

来源：

ANGIOGENESIS | 2019年 / 22卷 / 01期

关键词：

Telomere; Dyskeratosis congenita; Consortium; Vascular biology; COATS PLUS SYNDROME; BONE-MARROW; CEREBRORETINAL MICROANGIOPATHY; COMPONENT; MUTATIONS; CTC1; DISEASE; CALCIFICATIONS; COMPLEX; DEFECTS;

D O I：

10.1007/s10456-018-9640-7

中图分类号：

R6 [外科学];

学科分类号：

1002 ; 100210 ;

摘要：

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.

引用

页码：95 / 102

页数：8

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