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Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
C. Durno, AB. Ercan, V. Bianchi, M. Edwards, M. Aronson, M. Galati, EG. Atenafu, G. Abebe-Campino, A. Al-Battashi, M. Alharbi, VF. Azad, HN. Baris, D. Basel, R. Bedgood, A. Bendel, S. Ben-Shachar, DT. Blumenthal, M. Blundell, M. Bornhorst, A....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
CIHR - Canada
NLK
Free Medical Journals
od 2004 do Před 1 rokem
Open Access Digital Library
od 1999-01-01
PubMed
33945292
DOI
10.1200/jco.20.02636
Knihovny.cz E-zdroje
- MeSH
- časná detekce nádoru metody MeSH
- dědičné nádorové syndromy diagnóza epidemiologie metabolismus mortalita MeSH
- dítě MeSH
- dospělí MeSH
- enzymy opravy DNA nedostatek MeSH
- kolorektální nádory diagnóza epidemiologie metabolismus mortalita MeSH
- lidé MeSH
- míra přežití MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádory mozku diagnóza epidemiologie metabolismus mortalita MeSH
- následné studie MeSH
- oprava chybného párování bází DNA * MeSH
- předškolní dítě MeSH
- prognóza MeSH
- prospektivní studie MeSH
- surveillance populace MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Spojené státy americké MeSH
PURPOSE: Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. PATIENTS AND METHODS: Data were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort. Survival outcomes were analyzed for patients followed prospectively from the time of surveillance implementation. RESULTS: A total of 193 malignant tumors in 110 patients were identified. Median age of first cancer diagnosis was 9.2 years (range: 1.7-39.5 years). For patients undergoing surveillance, all GI and other solid tumors, and 75% of brain cancers were detected asymptomatically. By contrast, only 16% of hematologic malignancies were detected asymptomatically (P < .001). Eighty-nine patients were followed prospectively and used for survival analysis. Five-year overall survival (OS) was 90% (95% CI, 78.6 to 100) and 50% (95% CI, 39.2 to 63.7) when cancer was detected asymptomatically and symptomatically, respectively (P = .001). Patient outcome measured by adherence to the surveillance protocol revealed 4-year OS of 79% (95% CI, 54.8 to 90.9) for patients undergoing full surveillance, 55% (95% CI, 28.5 to 74.5) for partial surveillance, and 15% (95% CI, 5.2 to 28.8) for those not under surveillance (P < .0001). Of the 64 low-grade tumors detected, the cumulative likelihood of transformation from low-to high-grade was 81% for GI cancers within 8 years and 100% for gliomas in 6 years. CONCLUSION: Surveillance and early cancer detection are associated with improved OS for individuals with CMMRD.
Aga Khan University Hospital Karachi Pakistan
Akron Children's Hospital Akron OH
Ann and Robert H Lurie Children's Hospital of Chicago Chicago IL
Children's Hospital of Eastern Ontario Genetics Ottawa ON Canada
Children's Hospital of Pittsburgh of UPMC Pittsburgh PA
Children's National Medical Center Brain Tumor Institute Washington DC
Coliseum Medical Centers Macon GA
Dana Farber Children's Hospital Cancer Center Pediatric Oncology Boston MA
Department of Biostatistics Princess Margaret Cancer Centre University of Toronto Toronto ON Canada
Department of Clinical Cancer Genetics Banner MD Anderson Cancer Center Gilbert AZ
Department of Hematology and Oncology Cleveland Clinic Cleveland OH
Department of Hematology Medical Oncology Medical University of South Carolina Charleston SC
Department of Hematology Oncology CHU de Quebec Universite Laval Quebec QC Canada
Department of Internal Medicine The Ohio State University Comprehensive Cancer Center Columbus OH
Department of Medical Oncology and Hematology CancerCare Manitoba Winnipeg MB Canada
Department of Neurosurgery Taipei Veterans General Hospital Taipei Taiwan
Department of Oncology Hadassah Medical Center Jerusalem Israel
Department of Oncology Saint Jude Children's Research Hospital Memphis TN
Department of Pediatric Hemato Oncology Tel Aviv Sourasky Medical Center Tel Aviv Israel
Department of Pediatric Hematology and Oncology Atrium Health Charlotte NC
Department of Pediatric Hematology Oncology CancerCare Manitoba Winnipeg MB Canada
Department of Pediatric Hematology Oncology Children's Hospital Colorado Aurora CO
Department of Pediatric Hematology Oncology Hospital Infantil Universitario Nino Jesus Madrid Spain
Department of Pediatric Hematology Oncology Istanbul University Fatih Istanbul Turkey
Department of Pediatric Hematology Oncology King Fahad Medical City Riyadh Saudi Arabia
Department of Pediatric Hematology Oncology Nicklaus Children's Hospital Miami FL
Department of Pediatric Hematology Oncology NYU Langone Health New York NY
Department of Pediatric Hematology Oncology Sheba Medical Center Tel Hashomer Israel
Department of Pediatric Hematology Oncology Sutter Health Sacramento CA
Department of Pediatric Hematology Oncology University of Michigan Medical School Ann Arbor MI
Department of Pediatric Laboratory Medicine The Hospital for Sick Children Toronto ON Canada
Department of Pediatric Neurology Medical College of Wisconsin Milwaukee WI
Department of Pediatric Neurosurgery Tel Aviv Sourasky Medical Center Tel Aviv Israel
Department of Pediatrics London Health Sciences Centre London ON Canada
Department of Pediatrics Oregon Health and Science University Portland OR
Department of Pediatrics Stanford Medicine Stanford CA
Department of Pediatrics University of Gothenburg Sahlgrenska Academy Goteborg Sweden
Department of Pediatrics University of Padua Padova Veneto Italy
Department of Pediatrics West Virginia University Morgantown WV
Department of Surgery Mount Sinai Hospital Toronto ON Canada
Division of Clinical and Metabolic Genetics The Hospital for Sick Children Toronto ON Canada
Division of Hematology and Oncology The Hospital for Sick Children Toronto ON Canada
Division of Hematology Oncology IWK Health Centre Halifax NS Canada
Division of Medical Oncology University of Ottawa Ottawa ON Canada
Division of Oncology McGill University Health Centre Montreal QC Canada
IWK Health Centre Halifax NS Canada
Johns Hopkins All Children's Hospital Cancer and Blood Disorders Institute Saint Petersburg FL
Lebanese American University Medical Center Rizk Beirut Lebanon
MAHAK Pediatric Cancer Treatment and Research Center Tehran Iran
McGill University Health Centre Montreal QC Canada
Medical College of Wisconsin Pediatrics Milwaukee WI
Ministry of Health Oman Child Health Specialist Muscat Muscat Oman
Motol University Hospital Praha Czechia
Oncology Division Tel Aviv University Sackler Faculty of Medicine Tel Aviv Israel
Oregon Health and Science University Portland OR
Paediatric Haematology Womens and Childrens Hospital North Adelaide South Australia Australia
Pediatric Unit Fondazione IRCCS Istituto Nazionale dei Tumori Milano Lombardia Italy
Rambam Health Care Campus The Genetics Institute Haifa Israel
Saint Jude Children's Research Hospital Memphis TN
Sheba Medical Center at Tel Hashomer Tel Hashomer Israel
Sheba Medical Center Cancer Research Center Tel Hashomer Israel
Sutter Health Cancer Risk Program Sacramento CA
Sydney Children's Hospital Randwick Kids Cancer Centre Randwick New South Wales Australia
Tel Aviv Sourasky Medical Center Genetic Institute Tel Aviv Israel
The Indus Hospital Karachi Sindh Pakistan
The Ohio State University Comprehensive Cancer Center Internal Medicine Columbus OH
The Royal Children's Hospital Melbourne Children's Cancer Centre Parkville Victoria Australia
Universite Catholique de Louvain La Faculte de Medecine Bruxelles Belgium
University Hospital Dusseldorf Dusseldorf Nordrhein Westfalen Germany
University of California San Francisco San Francisco CA
University of Toronto Institute of Medical Science Toronto ON Canada
Valley Children's Hospital Madera CA
Citace poskytuje Crossref.org
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- $a Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance / $c C. Durno, AB. Ercan, V. Bianchi, M. Edwards, M. Aronson, M. Galati, EG. Atenafu, G. Abebe-Campino, A. Al-Battashi, M. Alharbi, VF. Azad, HN. Baris, D. Basel, R. Bedgood, A. Bendel, S. Ben-Shachar, DT. Blumenthal, M. Blundell, M. Bornhorst, A. Bronsema, E. Cairney, S. Rhode, S. Caspi, A. Chamdin, S. Chiaravalli, S. Constantini, B. Crooks, A. Das, R. Dvir, R. Farah, WD. Foulkes, Z. Frenkel, B. Gallinger, S. Gardner, D. Gass, M. Ghalibafian, C. Gilpin, Y. Goldberg, C. Goudie, SA. Hamid, H. Hampel, JR. Hansford, C. Harlos, N. Hijiya, S. Hsu, J. Kamihara, R. Kebudi, J. Knipstein, C. Koschmann, C. Kratz, V. Larouche, A. Lassaletta, S. Lindhorst, SC. Ling, MP. Link, R. Loret De Mola, R. Luiten, M. Lurye, JL. Maciaszek, V. MagimairajanIssai, OM. Maher, M. Massimino, RB. McGee, N. Mushtaq, G. Mason, M. Newmark, G. Nicholas, KE. Nichols, T. Nicolaides, E. Opocher, M. Osborn, B. Oshrine, R. Pearlman, D. Pettee, J. Rapp, M. Rashid, A. Reddy, L. Reichman, M. Remke, G. Robbins, S. Roy, M. Sabel, D. Samuel, I. Scheers, KW. Schneider, S. Sen, D. Stearns, D. Sumerauer, C. Swallow, L. Taylor, G. Thomas, H. Toledano, P. Tomboc, A. Van Damme, I. Winer, M. Yalon, LY. Yen, M. Zapotocky, S. Zelcer, DS. Ziegler, S. Zimmermann, C. Hawkins, D. Malkin, E. Bouffet, A. Villani, U. Tabori
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- $a PURPOSE: Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. PATIENTS AND METHODS: Data were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort. Survival outcomes were analyzed for patients followed prospectively from the time of surveillance implementation. RESULTS: A total of 193 malignant tumors in 110 patients were identified. Median age of first cancer diagnosis was 9.2 years (range: 1.7-39.5 years). For patients undergoing surveillance, all GI and other solid tumors, and 75% of brain cancers were detected asymptomatically. By contrast, only 16% of hematologic malignancies were detected asymptomatically (P < .001). Eighty-nine patients were followed prospectively and used for survival analysis. Five-year overall survival (OS) was 90% (95% CI, 78.6 to 100) and 50% (95% CI, 39.2 to 63.7) when cancer was detected asymptomatically and symptomatically, respectively (P = .001). Patient outcome measured by adherence to the surveillance protocol revealed 4-year OS of 79% (95% CI, 54.8 to 90.9) for patients undergoing full surveillance, 55% (95% CI, 28.5 to 74.5) for partial surveillance, and 15% (95% CI, 5.2 to 28.8) for those not under surveillance (P < .0001). Of the 64 low-grade tumors detected, the cumulative likelihood of transformation from low-to high-grade was 81% for GI cancers within 8 years and 100% for gliomas in 6 years. CONCLUSION: Surveillance and early cancer detection are associated with improved OS for individuals with CMMRD.
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- $a 2021 $b 39 $c 25 $d 2779-2790 $e 20210504 $i 1527-7755 $m Journal of clinical oncology $n J. clin. Oncol. $x MED00002596
- GRA __
- $p CIHR $2 Canada
- LZP __
- $a Pubmed-20220113
