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Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD).

作者信息

Briggs Mayen, Das Anirban, Firth Helen, Levine Adrian, Sánchez-Ramírez Santiago, Negm Logine, Ercan Ayse B, Chung Jill, Bianchi Vanessa, Jalloh Ibrahim, Phyu Poe, Thorp Nicky, Grundy Richard G, Hawkins Cynthia, Trotman Jamie, Tarpey Patrick, Tabori Uri, Allinson Kieren, Murray Matthew J

机构信息

Department of Neuropathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

The International Replication Repair Deficiency Consortium (IRRDC), Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.

出版信息

Neuropathol Appl Neurobiol. 2023 Feb;49(1):e12862. doi: 10.1111/nan.12862. Epub 2022 Nov 18.

DOI:10.1111/nan.12862
PMID:36341503
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10099894/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfa2/10099894/7e6196583ddc/NAN-49-0-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfa2/10099894/7cb3fda10849/NAN-49-0-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfa2/10099894/7e6196583ddc/NAN-49-0-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfa2/10099894/7cb3fda10849/NAN-49-0-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfa2/10099894/7e6196583ddc/NAN-49-0-g001.jpg

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Neurol India. 2022 Mar-Apr;70(2):772-774. doi: 10.4103/0028-3886.344608.
2
Immune Checkpoint Inhibition as Single Therapy for Synchronous Cancers Exhibiting Hypermutation: An IRRDC Study.免疫检查点抑制作为具有高突变的同步性癌症的单一疗法：一项IRRDC研究。
JCO Precis Oncol. 2022 Mar;6:e2100286. doi: 10.1200/PO.21.00286.
3
Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency.
癌症易感性综合征的最新进展及儿童脑肿瘤监测指南。
Clin Cancer Res. 2024 Jun 3;30(11):2342-2350. doi: 10.1158/1078-0432.CCR-23-4033.
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Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma.超越种系基因检测——两名骨肉瘤和室管膜瘤患儿中PMS2的杂合致病性变异
Hered Cancer Clin Pract. 2023 Jun 12;21(1):8. doi: 10.1186/s13053-023-00254-4.
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Nat Med. 2022 Jan;28(1):125-135. doi: 10.1038/s41591-021-01581-6. Epub 2022 Jan 6.
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