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

Author:

Briggs Mayen1,Das Anirban2,Firth Helen3,Levine Adrian2,Sánchez‐Ramírez Santiago2,Negm Logine2,Ercan Ayse B.2,Chung Jill2,Bianchi Vanessa2,Jalloh Ibrahim4,Phyu Poe5,Thorp Nicky6,Grundy Richard G.7,Hawkins Cynthia8,Trotman Jamie9,Tarpey Patrick9,Tabori Uri2,Allinson Kieren1,Murray Matthew J.1011ORCID,

Affiliation:

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

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

3. Department of Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge UK

4. Department of Neurosurgery Cambridge University Hospitals NHS Foundation Trust Cambridge UK

5. Department of Radiology Cambridge University Hospitals NHS Foundation Trust Cambridge UK

6. Department of Radiation Oncology The Christie Proton Beam Therapy Centre Manchester UK

7. Children's Brain Tumour Research Centre, Biodiscovery Unit University of Nottingham Nottingham UK

8. Division of Neuropathology The Hospital for Sick Children Toronto ON Canada

9. East‐Genomics Laboratory Hub (GLH) Genetics Laboratory Cambridge University Hospitals NHS Foundation Trust Cambridge UK

10. Department of Pathology University of Cambridge Cambridge UK

11. Department of Paediatric Haematology and Oncology Cambridge University Hospitals NHS Foundation Trust Cambridge UK

Funder

NIHR Cambridge Biomedical Research Centre

National Institute for Health and Care Research

Heart of England NHS Foundation Trust

Wellcome Trust

Cancer Research UK

Medical Research Council Canada

Publisher

Wiley

Subject

Physiology (medical),Neurology (clinical),Neurology,Histology,Pathology and Forensic Medicine

Reference44 articles.

1. Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies

2. Human MLH1 deficiency predisposes to haematological malignancy and neurofibromatosis type 1;Ricciardone MD;Cancer Res,1999

3. Neurofibromatosis and early onset of cancers in hMLH1‐deficient children;Wang Q;Cancer Res,1999

4. High frequency of mismatch repair deficiency among pediatric high grade gliomas in Jordan

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