Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/177751
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Carrato, Cristina | - |
dc.contributor.author | Sanz, Carolina | - |
dc.contributor.author | Muñoz Mármol, Ana María | - |
dc.contributor.author | Blanco Guillermo, Ignacio | - |
dc.contributor.author | Pineda Riu, Marta | - |
dc.contributor.author | Valle Domínguez, Jesús del | - |
dc.contributor.author | Dámaso, Estela | - |
dc.contributor.author | Esteller, Manel | - |
dc.contributor.author | Musulén, Eva | - |
dc.date.accessioned | 2021-05-28T09:09:24Z | - |
dc.date.available | 2021-05-28T09:09:24Z | - |
dc.date.issued | 2021-04-28 | - |
dc.identifier.uri | http://hdl.handle.net/2445/177751 | - |
dc.description.abstract | Biallelic germline mismatch repair (MMR) gene (MLH1, MSH2, MSH6, and PMS2) mutations are an extremely rare event that causes constitutional mismatch repair deficiency (CMMRD) syndrome. CMMRD is underdiagnosed and often debuts with pediatric malignant brain tumors. A high degree of clinical awareness of the CMMRD phenotype is needed to identify new cases. Immunohistochemical (IHC) assessment of MMR protein expression and analysis of microsatellite instability (MSI) are the first tools with which to initiate the study of this syndrome in solid malignancies. MMR IHC shows a hallmark pattern with absence of staining in both neoplastic and non-neoplastic cells for the biallelic mutated gene. However, MSI often fails in brain malignancies. The aim of this report is to draw attention to the peculiar IHC profile that characterizes CMMRD syndrome and to review the difficulties in reaching an accurate diagnosis by describing the case of two siblings with biallelic MSH6 germline mutations and brain tumors. Given the difficulties involved in early diagnosis of CMMRD we propose the use of the IHC of MMR proteins in all malignant brain tumors diagnosed in individuals younger than 25 years-old to facilitate the diagnosis of CMMRD and to select those neoplasms that will benefit from immunotherapy treatment. | - |
dc.format.extent | 20 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | MDPI | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.3390/ijms22094629 | - |
dc.relation.ispartof | International Journal of Molecular Sciences, 2021, vol. 22, num. 9 | - |
dc.relation.uri | https://doi.org/10.3390/ijms22094629 | - |
dc.rights | cc by (c) Carrato et al., 2021 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.source | Articles publicats en revistes (Ciències Fisiològiques) | - |
dc.subject.classification | Tumors cerebrals | - |
dc.subject.classification | Expressió gènica | - |
dc.subject.other | Brain tumors | - |
dc.subject.other | Gene expression | - |
dc.title | The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 716107 | - |
dc.date.updated | 2021-05-28T07:18:48Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 33924881 | - |
Appears in Collections: | Articles publicats en revistes (Ciències Fisiològiques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
ijms-22-04629.pdf | 1.92 MB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License