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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 07228naa a2201669 4500 | |
| 001 | oai:gup.ub.gu.se/309357 | |
| 003 | SwePub | |
| 008 | 240528s2021 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/3093572 URI |
| 024 | 7 | a https://doi.org/10.1200/jco.20.026362 DOI |
| 040 | a (SwePub)gu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Durno, C.4 aut |
| 245 | 1 0 | a Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance |
| 264 | 1 | b American Society of Clinical Oncology (ASCO),c 2021 |
| 520 | 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
| 653 | a european consortium care | |
| 653 | a tp53 mutation carriers | |
| 653 | a li-fraumeni syndrome | |
| 653 | a imaging surveillance | |
| 653 | a follow-up | |
| 653 | a hypermutation | |
| 653 | a recommendations | |
| 653 | a hereditary | |
| 653 | a mechanisms | |
| 653 | a guidelines | |
| 653 | a Oncology | |
| 700 | 1 | a Ercan, A. B.4 aut |
| 700 | 1 | a Bianchi, V.4 aut |
| 700 | 1 | a Edwards, M.4 aut |
| 700 | 1 | a Aronson, M.4 aut |
| 700 | 1 | a Galati, M.4 aut |
| 700 | 1 | a Atenafu, E. G.4 aut |
| 700 | 1 | a Abebe-Campino, G.4 aut |
| 700 | 1 | a Al-Battashi, A.4 aut |
| 700 | 1 | a Alharbi, M.4 aut |
| 700 | 1 | a Azad, V. F.4 aut |
| 700 | 1 | a Baris, H. N.4 aut |
| 700 | 1 | a Basel, D.4 aut |
| 700 | 1 | a Bedgood, R.4 aut |
| 700 | 1 | a Bendel, A.4 aut |
| 700 | 1 | a Ben-Shachar, S.4 aut |
| 700 | 1 | a Blumenthal, D. T.4 aut |
| 700 | 1 | a Blundell, M.4 aut |
| 700 | 1 | a Bornhorst, M.4 aut |
| 700 | 1 | a Bronsema, A.4 aut |
| 700 | 1 | a Cairney, E.4 aut |
| 700 | 1 | a Rhode, S.4 aut |
| 700 | 1 | a Caspi, S.4 aut |
| 700 | 1 | a Chamdin, A.4 aut |
| 700 | 1 | a Chiaravalli, S.4 aut |
| 700 | 1 | a Constantini, S.4 aut |
| 700 | 1 | a Crooks, B.4 aut |
| 700 | 1 | a Das, A.4 aut |
| 700 | 1 | a Dvir, R.4 aut |
| 700 | 1 | a Farah, R.4 aut |
| 700 | 1 | a Foulkes, W. D.4 aut |
| 700 | 1 | a Frenkel, Z.4 aut |
| 700 | 1 | a Gallinger, B.4 aut |
| 700 | 1 | a Gardner, S.4 aut |
| 700 | 1 | a Gass, D.4 aut |
| 700 | 1 | a Ghalibafian, M.4 aut |
| 700 | 1 | a Gilpin, C.4 aut |
| 700 | 1 | a Goldberg, Y.4 aut |
| 700 | 1 | a Goudie, C.4 aut |
| 700 | 1 | a Hamid, S. A.4 aut |
| 700 | 1 | a Hampel, H.4 aut |
| 700 | 1 | a Hansford, J. R.4 aut |
| 700 | 1 | a Harlos, C.4 aut |
| 700 | 1 | a Hijiya, N.4 aut |
| 700 | 1 | a Hsu, S.4 aut |
| 700 | 1 | a Kamihara, J.4 aut |
| 700 | 1 | a Kebudi, R.4 aut |
| 700 | 1 | a Knipstein, J.4 aut |
| 700 | 1 | a Koschmann, C.4 aut |
| 700 | 1 | a Kratz, C.4 aut |
| 700 | 1 | a Larouche, V.4 aut |
| 700 | 1 | a Lassaletta, A.4 aut |
| 700 | 1 | a Lindhorst, S.4 aut |
| 700 | 1 | a Ling, S. C.4 aut |
| 700 | 1 | a Link, M. P.4 aut |
| 700 | 1 | a De Mola, R. L.4 aut |
| 700 | 1 | a Luiten, R.4 aut |
| 700 | 1 | a Lurye, M.4 aut |
| 700 | 1 | a Maciaszek, J. L.4 aut |
| 700 | 1 | a MagimairajanIssai, V.4 aut |
| 700 | 1 | a Maher, O. M.4 aut |
| 700 | 1 | a Massimino, M.4 aut |
| 700 | 1 | a McGee, R. B.4 aut |
| 700 | 1 | a Mushtaq, N.4 aut |
| 700 | 1 | a Mason, G.4 aut |
| 700 | 1 | a Newmark, M.4 aut |
| 700 | 1 | a Nicholas, G.4 aut |
| 700 | 1 | a Nichols, K. E.4 aut |
| 700 | 1 | a Nicolaides, T.4 aut |
| 700 | 1 | a Opocher, E.4 aut |
| 700 | 1 | a Osborn, M.4 aut |
| 700 | 1 | a Oshrine, B.4 aut |
| 700 | 1 | a Pearlman, R.4 aut |
| 700 | 1 | a Pettee, D.4 aut |
| 700 | 1 | a Rapp, J.4 aut |
| 700 | 1 | a Rashid, M.4 aut |
| 700 | 1 | a Reddy, A.4 aut |
| 700 | 1 | a Reichman, L.4 aut |
| 700 | 1 | a Remke, M.4 aut |
| 700 | 1 | a Robbins, G.4 aut |
| 700 | 1 | a Roy, S.4 aut |
| 700 | 1 | a Sabel, Magnus,d 1966u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xsabma |
| 700 | 1 | a Samuel, D.4 aut |
| 700 | 1 | a Scheers, I.4 aut |
| 700 | 1 | a Schneider, K. W.4 aut |
| 700 | 1 | a Sen, S.4 aut |
| 700 | 1 | a Stearns, D.4 aut |
| 700 | 1 | a Sumerauer, D.4 aut |
| 700 | 1 | a Swallow, C.4 aut |
| 700 | 1 | a Taylor, L.4 aut |
| 700 | 1 | a Thomas, G.4 aut |
| 700 | 1 | a Toledano, H.4 aut |
| 700 | 1 | a Tomboc, P.4 aut |
| 700 | 1 | a Van Damme, A.4 aut |
| 700 | 1 | a Winer, I.4 aut |
| 700 | 1 | a Yalon, M.4 aut |
| 700 | 1 | a Yen, L. Y.4 aut |
| 700 | 1 | a Zapotocky, M.4 aut |
| 700 | 1 | a Zelcer, S.4 aut |
| 700 | 1 | a Ziegler, D. S.4 aut |
| 700 | 1 | a Zimmermann, S.4 aut |
| 700 | 1 | a Hawkins, C.4 aut |
| 700 | 1 | a Malkin, D.4 aut |
| 700 | 1 | a Bouffet, E.4 aut |
| 700 | 1 | a Villani, A.4 aut |
| 700 | 1 | a Tabori, U.4 aut |
| 710 | 2 | a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org |
| 773 | 0 | t Journal of Clinical Oncologyd : American Society of Clinical Oncology (ASCO)g 39:25q 39:25x 0732-183Xx 1527-7755 |
| 856 | 4 | u https://ascopubs.org/doi/pdfdirect/10.1200/JCO.20.02636 |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/309357 |
| 856 | 4 8 | u https://doi.org/10.1200/jco.20.02636 |
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- Durno, C.
- Ercan, A. B.
- Bianchi, V.
- Edwards, M.
- Aronson, M.
- Galati, M.
- visa fler...
- Atenafu, E. G.
- Abebe-Campino, G ...
- Al-Battashi, A.
- Alharbi, M.
- Azad, V. F.
- Baris, H. N.
- Basel, D.
- Bedgood, R.
- Bendel, A.
- Ben-Shachar, S.
- Blumenthal, D. T ...
- Blundell, M.
- Bornhorst, M.
- Bronsema, A.
- Cairney, E.
- Rhode, S.
- Caspi, S.
- Chamdin, A.
- Chiaravalli, S.
- Constantini, S.
- Crooks, B.
- Das, A.
- Dvir, R.
- Farah, R.
- Foulkes, W. D.
- Frenkel, Z.
- Gallinger, B.
- Gardner, S.
- Gass, D.
- Ghalibafian, M.
- Gilpin, C.
- Goldberg, Y.
- Goudie, C.
- Hamid, S. A.
- Hampel, H.
- Hansford, J. R.
- Harlos, C.
- Hijiya, N.
- Hsu, S.
- Kamihara, J.
- Kebudi, R.
- Knipstein, J.
- Koschmann, C.
- Kratz, C.
- Larouche, V.
- Lassaletta, A.
- Lindhorst, S.
- Ling, S. C.
- Link, M. P.
- De Mola, R. L.
- Luiten, R.
- Lurye, M.
- Maciaszek, J. L.
- MagimairajanIssa ...
- Maher, O. M.
- Massimino, M.
- McGee, R. B.
- Mushtaq, N.
- Mason, G.
- Newmark, M.
- Nicholas, G.
- Nichols, K. E.
- Nicolaides, T.
- Opocher, E.
- Osborn, M.
- Oshrine, B.
- Pearlman, R.
- Pettee, D.
- Rapp, J.
- Rashid, M.
- Reddy, A.
- Reichman, L.
- Remke, M.
- Robbins, G.
- Roy, S.
- Sabel, Magnus, 1 ...
- Samuel, D.
- Scheers, I.
- Schneider, K. W.
- Sen, S.
- Stearns, D.
- Sumerauer, D.
- Swallow, C.
- Taylor, L.
- Thomas, G.
- Toledano, H.
- Tomboc, P.
- Van Damme, A.
- Winer, I.
- Yalon, M.
- Yen, L. Y.
- Zapotocky, M.
- Zelcer, S.
- Ziegler, D. S.
- Zimmermann, S.
- Hawkins, C.
- Malkin, D.
- Bouffet, E.
- Villani, A.
- Tabori, U.
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