Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
About this item
Full title
Author / Creator
Guerrini-Rousseau, Léa , Pasmant, Eric , Muleris, Martine , Abbou, Samuel , Adam-De-Beaumais, Tiphaine , Brugieres, Laurence , Cabaret, Odile , Colas, Chrystelle , Cotteret, Sophie , Decq, Philippe , Dufour, Christelle , Guillerm, Erell , Rouleau, Etienne , Varlet, Pascale , Zili, Saïma , Vidaud, Dominique and Grill, Jacques
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
Differential diagnosis between constitutional mismatch repair deficiency (CMMRD) and neurofibromatosis type 1 (NF1) is crucial as treatment and surveillance differ. We report the case of a girl with a clinical diagnosis of sporadic NF1 who developed a glioblastoma. Immunohistochemistry for MMR proteins identified PMS2 loss in tumour and normal cell...
Alternative Titles
Full title
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10850717
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10850717
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg-2023-109235
