Age of first cancer diagnosis and survival in Bloom syndrome |
| |
| Authors: | Thelma Alessandra Sugrañes Maeve Flanagan Charlene Thomas Vivian Y Chang Michael Walsh Christopher Cunniff |
| |
| Institution: | 1. Memorial Sloan Kettering Cancer Center, New York, NY;2. Department of Pediatrics, Weill Cornell Medical College, New York, NY;3. Department of Population Health Sciences, Weill Cornell Medical College, New York, NY;4. Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA;1. Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa;2. MRC Unit for Genomic and Precision Medicine, Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa;3. Department of Biochemistry and Medical Microbiology, School of Medicine, University of Namibia, Windhoek, Namibia;4. Division of Medical Virology, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa;5. Division of Human Genetics, Department of Pathology, Colorectal Cancer Research Group, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa;1. Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada;2. Provincial Medical Genetics Program, Women’s Hospital of British Columbia, Vancouver, British Columbia, Canada;3. Khoo Teck Puat-National University Children’s Medical Institute, National University Hospital, Singapore, Singapore;4. Department of Pediatrics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada;5. Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia;6. MD Undergraduate Program, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada;7. William Harvey Research Institute, Barts & The London School of Medicine & Dentistry, Queen Mary University of London, London, United Kingdom;8. Breakthrough Genomics, Irvine, CA;9. Oregon Clinical and Translational Science Institute, Oregon Health & Science University, Portland, OR;10. Provincial Laboratory Medicine Services, Provincial Health Services Authority, Vancouver, British Columbia, Canada;11. Helix, San Mateo, CA;12. Jackson Laboratory for Genomic Medicine, Farmington, CT;1. Vanderbilt University School of Medicine, Medical Scientist Training Program, Vanderbilt University, Nashville, TN;2. Vanderbilt Center for Arrhythmia Research and Therapeutics (VanCART), Vanderbilt University Medical Center, Nashville, TN;3. Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN;4. Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN;5. Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN;1. Department of Medical Social Sciences, Feinberg School of Medicine, Northwestern University, Chicago, IL;2. The Comparative Health Outcomes, Policy & Economics (CHOICE) Institute and Department of Pharmacy, School of Pharmacy, University of Washington, Seattle, WA;3. Department of Health Systems and Population Health, School of Public Health, University of Washington, Seattle, WA;1. Houston Methodist DeBakey Heart & Vascular Center, J.C. Walter Jr Transplant Center, Houston Methodist, Houston, TX;2. Miami Cardiac & Vascular Institute, Baptist Health South Florida, Miami, FL;3. Emory University School of Medicine, Emory University, Atlanta, GA;4. Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA;5. Center for Inherited Cardiovascular Disease, Division of Cardiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA;6. University of Washington, Seattle, WA;7. Division of Human Genetics, Department of Internal Medicine, College of Medicine, The Ohio State University, Columbus, OH;8. Tufts University School of Medicine, Boston, MA;9. Division of Cardiovascular Medicine, Department of Internal Medicine, College of Medicine, The Ohio State University, Columbus, OH;1. Division of Genomic Medicine, UC Davis Health MIND Institute, Department of Pediatrics, UC Davis Health, University of California, Davis, Sacramento, CA;2. Department of Ophthalmology and Vision Science, UC Davis Health, University of California, Davis, Sacramento, CA;3. Department of Pathology and Laboratory Medicine, UC Davis Health, University of California, Davis, Sacramento, CA;4. UC Davis Mouse Biology Program, University of California, Davis, Davis, CA;5. Department of Chemistry and Molecular Biology, University of Gothenburg, Gothenburg, Sweden;6. Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia;7. Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;8. Roche Pharma Research and Early Development (pRED), Roche Innovation Center Munich (RICM), Penzberg, Germany;9. Division of Microbiology, Institute of Biology, University of Kassel, Kassel, Germany;10. GeneDx, Gaithersburg, MD;11. Division of Genetics, Brigham and Women''s Hospital, Boston, MA;12. Undiagnosed Diseases Network;13. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA;14. Department of Obstetrics & Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;15. Division of Health Informatics, Department of Public Health Sciences, School of Medicine, University of California, Davis, Sacramento, CA;16. Department of Surgery, UC Davis Health, University of California, Davis, Sacramento, CA |
| |
| Abstract: | PurposeThis study aimed to describe the spectrum of cancers observed in Bloom Syndrome and the observed survival and age of first cancer diagnosis in Bloom syndrome as these are not well-defined.MethodsData from the Bloom Syndrome Registry (BSR) was used for this study. Cancer history, ages of first cancer diagnosis, and ages of death were compiled from the BSR and analyzed.ResultsAmong the 290 individuals in the BSR, 155 (53%) participants developed 251 malignant neoplasms; 100 (65%) were diagnosed with 1 malignancy, whereas the remaining 55 (35%) developed multiple malignancies. Of the 251 neoplasms, 83 (33%) were hematologic and 168 (67%) were solid tumors. Hematologic malignancies (leukemia and lymphoma) were more common than any of the solid tumors. The most commonly observed solid tumors were colorectal, breast, and oropharyngeal. The cumulative incidence of any malignancy by age 40 was 83%. The median survival for all participants in the BSR was 36.2 years. There were no significant differences in time to first cancer diagnosis or survival by genotype among the study participants.ConclusionWe describe the spectrum of cancers observed in Bloom syndrome and the observed survival and age of first cancer diagnosis in Bloom syndrome. We also highlight the significant differences in survival and age of diagnosis seen among different tumor types and genotypes. |
| |
| Keywords: | Bloom syndrome Cancer Diagnosis Survival |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
