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- Durno, C., et al.
(författare)
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Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
- 2021
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Ingår i: Journal of Clinical Oncology. - : American Society of Clinical Oncology (ASCO). - 0732-183X .- 1527-7755. ; 39:25
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Tidskriftsartikel (refereegranskat)abstract
- 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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| 2. |
- Igalson, M., et al.
(författare)
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Concentration of defects responsible for persistent photoconductivity in Cu (In,Ga)Se-2 : Dependence on material composition
- 2019
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Ingår i: Thin Solid Films. - : ELSEVIER SCIENCE SA. - 0040-6090 .- 1879-2731. ; 669, s. 600-604
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Tidskriftsartikel (refereegranskat)abstract
- Persistent photoconductivity (PPC) in thin Cu(In,Ga)Se-2 films is discussed within a model of relaxing defects acting as donors or acceptors depending on their configurational and charge state. The aim of this work is to identify the factors related to technological processes which affect the magnitude of PPC. We established a method of evaluation of the concentration of metastable defects in thin Cu(In,Ga)Se-2 films relating it to the position of the Fermi level in thermodynamic equilibrium and used it to compare and discuss the impact of preparation details on the PPC value. The main result is that deviation from Cu/(Ga + In) stoichiometry does not change the concentration of metastable defects. Post deposition annealing in selenium affects the PPC depending on the presence of sodium during the treatment, while the impact of sodium itself on the metastable defect concentration apparently depends on whether it is present during the Cu(In,Ga)Se-2 deposition process or whether it is supplied during post-deposition treatment.
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