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

被引：6

作者：

Briggs, Mayen ^{[1
]}

Das, Anirban ^{[2
]}

Firth, Helen ^{[3
]}

Levine, Adrian ^{[2
]}

Sanchez-Ramirez, Santiago ^{[2
]}

Negm, Logine ^{[2
]}

Ercan, Ayse B. ^{[2
]}

Chung, Jill ^{[2
]}

Bianchi, Vanessa ^{[2
]}

Jalloh, Ibrahim ^{[4
]}

Phyu, Poe ^{[5
]}

Thorp, Nicky ^{[6
]}

Grundy, Richard G. ^{[7
]}

Hawkins, Cynthia ^{[8
]}

Trotman, Jamie ^{[9
]}

Tarpey, Patrick ^{[9
]}

Tabori, Uri ^{[2
]}

Allinson, Kieren ^{[1
]}

Murray, Matthew J. ^{[10
,11
]}

机构：

[1] Cambridge Univ Hosp NHS Fdn Trust, Dept Neuropathol, Cambridge, England

[2] Hosp Sick Children, Div Haematol Oncol, Int Replicat Repair Deficiency Consortium IRRDC, Toronto, ON, Canada

[3] Cambridge Univ Hosp NHS Fdn Trust, Dept Genet, Cambridge, England

[4] Cambridge Univ Hosp NHS Fdn Trust, Dept Neurosurg, Cambridge, England

[5] Cambridge Univ Hosp NHS Fdn Trust, Dept Radiol, Cambridge, England

[6] Christie Proton Beam Therapy Ctr, Dept Radiat Oncol, Manchester, England

[7] Univ Nottingham, Childrens Brain Tumour Res Ctr, Biodiscovery Unit, Nottingham, England

[8] Hosp Sick Children, Div Neuropathol, Toronto, ON, Canada

[9] Cambridge Univ Hosp NHS Fdn Trust, East Genom Lab Hub GLH, Genet Lab, Cambridge, England

[10] Univ Cambridge, Dept Pathol, Tennis Court Rd, Cambridge CB2 1QP, England

[11] Cambridge Univ Hosp NHS Fdn Trust, Dept Paediat Haematol & Oncol, Cambridge, England

来源：

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY | 2023年 / 49卷 / 01期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

CMMRD; congenital mismatch repair deficiency; ependymoma; Lynch syndrome; PMS2; HIGH-FREQUENCY; MUTATIONS; NEUROFIBROMATOSIS; HEREDITARY; CANCER; MANAGEMENT; GENES; ONSET;

D O I：

10.1111/nan.12862

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页数：9

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