Skip to main content
Advertisement

Main menu

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home

User menu

  • Alerts
  • Log in

Search

  • Advanced search
American Journal of Neuroradiology
American Journal of Neuroradiology

American Journal of Neuroradiology

ASHNR American Society of Functional Neuroradiology ASHNR American Society of Pediatric Neuroradiology ASSR
  • Alerts
  • Log in

Advanced Search

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home
  • Follow AJNR on Twitter
  • Visit AJNR on Facebook
  • Follow AJNR on Instagram
  • Join AJNR on LinkedIn
  • RSS Feeds

AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Research ArticlePediatrics

Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome

A. Kerpel, M. Yalon, M. Soudack, J. Chiang, A. Gajjar, K.E. Nichols, Z. Patay, S. Shrot and C. Hoffmann
American Journal of Neuroradiology May 2020, 41 (5) 904-910; DOI: https://doi.org/10.3174/ajnr.A6512
A. Kerpel
aFrom the Department of Radiology (A.K., M.S., S.S., C.H.), Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel
cSackler School of Medicine (A.K., M.Y., M.S., S.S., C.H.), Tel Aviv University, Tel Aviv, Israel
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for A. Kerpel
M. Yalon
bPediatric Hemato-Oncology (M.Y.), Edmond and Lilly Safra Children's Hospital and Cancer Research Center, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel
cSackler School of Medicine (A.K., M.Y., M.S., S.S., C.H.), Tel Aviv University, Tel Aviv, Israel
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for M. Yalon
M. Soudack
aFrom the Department of Radiology (A.K., M.S., S.S., C.H.), Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel
cSackler School of Medicine (A.K., M.Y., M.S., S.S., C.H.), Tel Aviv University, Tel Aviv, Israel
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for M. Soudack
J. Chiang
dDepartment of Pathology (J.C.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for J. Chiang
A. Gajjar
eDivisions of Neuro-Oncology (A.G.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for A. Gajjar
K.E. Nichols
fCancer Predisposition (K.E.N.),
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for K.E. Nichols
Z. Patay
gDepartment of Oncology and Section of Neuroimaging, Department of Diagnostic Imaging (Z.P.), St. Jude Children's Research Hospital, Memphis, Tennessee.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Z. Patay
S. Shrot
aFrom the Department of Radiology (A.K., M.S., S.S., C.H.), Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel
cSackler School of Medicine (A.K., M.Y., M.S., S.S., C.H.), Tel Aviv University, Tel Aviv, Israel
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for S. Shrot
C. Hoffmann
aFrom the Department of Radiology (A.K., M.S., S.S., C.H.), Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel
cSackler School of Medicine (A.K., M.Y., M.S., S.S., C.H.), Tel Aviv University, Tel Aviv, Israel
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for C. Hoffmann
  • Article
  • Figures & Data
  • Supplemental
  • Info & Metrics
  • Responses
  • References
  • PDF
Loading

References

  1. 1.↵
    1. Jiricny J
    . The multifaceted mismatch-repair system. Nat Rev Mol Cell Biol 2006;7:335–46 doi:10.1038/nrm1907 pmid:16612326
    CrossRefPubMedWeb of Science
  2. 2.↵
    1. Wimmer K,
    2. Kratz CP
    . Constitutional mismatch repair-deficiency syndrome. Haematologica 2010;95:699–701 doi:10.3324/haematol.2009.021626 pmid:20442441
    FREE Full Text
  3. 3.↵
    1. Wimmer K,
    2. Rosenbaum T,
    3. Messiaen L
    . Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1. Clin Genet 2017;91:507–19 doi:10.1111/cge.12904 pmid:27779754
    CrossRefPubMed
  4. 4.↵
    1. Durno C,
    2. Boland CR,
    3. Cohen S, et al
    . Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology 2017;152:1605–14 doi:10.1053/j.gastro.2017.02.011 pmid:28363489
    CrossRefPubMed
  5. 5.↵
    1. Wimmer K,
    2. Kratz CP,
    3. Vasen HF, et al
    ; EU-Consortium Care for CMMRD (C4CMMRD). Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European Consortium “Care for CMMRD” (C4CMMRD). J Med Genet 2014;51:355–65 doi:10.1136/jmedgenet-2014-102284 pmid:24737826
    Abstract/FREE Full Text
  6. 6.↵
    1. Vasen HF,
    2. Ghorbanoghi Z,
    3. Bourdeaut F, et al
    ; EU-Consortium Care for CMMR-D (C4CMMR-D). Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D). J Med Genet 2014;51:283–93 doi:10.1136/jmedgenet-2013-102238 pmid:24556086
    Abstract/FREE Full Text
  7. 7.↵
    1. Johannesma PC,
    2. van der Klift HM,
    3. van Grieken NC, et al
    . Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations. Clin Genet 2011;80:243–55 doi:10.1111/j.1399-0004.2011.01635.x pmid:21261604
    CrossRefPubMed
  8. 8.↵
    1. Tabori U,
    2. Hansford JR,
    3. Achatz MI, et al
    . Clinical management and tumor surveillance recommendations of inherited mismatch repair deficiency in childhood. Clin Cancer Res 2017;23:e32–37 doi:10.1158/1078-0432.CCR-17-0574 pmid:28572265
    Abstract/FREE Full Text
  9. 9.↵
    1. Aronson M,
    2. Gallinger S,
    3. Cohen Z, et al
    . Gastrointestinal findings in the largest series of patients with hereditary biallelic mismatch repair deficiency syndrome: report from the international consortium. Am J Gastroenterol 2016;111:275–84 doi:10.1038/ajg.2015.392 pmid:26729549
    CrossRefPubMed
  10. 10.↵
    1. Kim B,
    2. Tabori U,
    3. Hawkins C
    . An update on the CNS manifestations of brain tumor polyposis syndromes. Acta Neuropathol 2020 Jan 22. [Epub ahead of print] doi:10.1007/s00401-020-02124-y pmid:31970492
    CrossRefPubMed
  11. 11.↵
    1. Bouffet E,
    2. Larouche V,
    3. Campbell BB, et al
    . Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency. J Clin Oncol 2016;34:2206–01 doi:10.1200/JCO.2016.66.6552 pmid:27001570
    Abstract/FREE Full Text
  12. 12.↵
    1. Q Rana H,
    2. Syngal S
    . Biallelic mismatch repair deficiency: management and prevention of a devastating manifestation of the Lynch syndrome. Gastroenterology 2017;152:1254–57 doi:10.1053/j.gastro.2017.03.013 pmid:28327367
    CrossRefPubMed
  13. 13.↵
    1. Shinagare AB,
    2. Giardino AA,
    3. Jagannathan JP, et al
    . Hereditary cancer syndromes: a radiologist’s perspective. AJR Am J Roentgenol 2011;197:W1001–07 doi:10.2214/AJR.11.6465 pmid:22109313
    CrossRefPubMed
  14. 14.↵
    1. Bakry D,
    2. Aronson M,
    3. Durno C, et al
    . Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the Constitutional Mismatch Repair Deficiency Consortium. Eur J Cancer 2014;50:987–96 doi:10.1016/j.ejca.2013.12.005 pmid:24440087
    CrossRefPubMed
  15. 15.↵
    1. Broniscer A,
    2. Baker SJ,
    3. West AN, et al
    . Clinical and molecular characteristics of malignant transformation of low-grade glioma in children. J Clin Oncol 2007;25:682–89 doi:10.1200/JCO.2006.06.8213 pmid:17308273
    Abstract/FREE Full Text
  16. 16.↵
    1. Paugh BS,
    2. Qu C,
    3. Jones C, et al
    . Integrated molecular genetic profiling of pediatric high-grade gliomas reveals key differences with the adult disease. J Clin Oncol 2010;28:3061–68 doi:10.1200/JCO.2009.26.7252 pmid:20479398
    Abstract/FREE Full Text
  17. 17.↵
    1. Michaeli O,
    2. Tabori U
    . Pediatric high-grade gliomas in the context of cancer predisposition syndromes. J Korean Neurosurg Soc 2018;61:319–332.doi:10.3340/jkns.2018.0031 pmid:29742882
    CrossRefPubMed
  18. 18.↵
    1. Shlien A,
    2. Campbell BB,
    3. de Borja R, et al
    ; Biallelic Mismatch Repair Deficiency Consortium. Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers. Nat Genet 2015;47:257–62 doi:10.1038/ng.3202 pmid:25642631
    CrossRefPubMed
  19. 19.↵
    1. Itoh T,
    2. Magnaldi S,
    3. White RM, et al
    . Neurofibromatosis type 1: the evolution of deep gray and white matter MR abnormalities. AJNR Am J Neuroradiol 1994;15:1513–19 pmid:7985572
    Abstract/FREE Full Text
  20. 20.↵
    1. Baas AF,
    2. Gabbett M,
    3. Rimac M, et al
    . Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. Eur J Hum Genet 2013;21:55–61 doi:10.1038/ejhg.2012.117 pmid:22692065
    CrossRefPubMed
  21. 21.↵
    1. Shiran SI,
    2. Ben-Sira L,
    3. Elhasid R, et al
    . Multiple brain developmental venous anomalies as a marker for constitutional mismatch repair deficiency syndrome. AJNR Am J Neuroradiol 2018;39:1943–46 doi:10.3174/ajnr.A5766 pmid:30166433
    Abstract/FREE Full Text
  22. 22.↵
    1. Gökçe E,
    2. Acu B,
    3. Beyhan M, et al
    . Magnetic resonance imaging findings of developmental venous anomalies. Clin Neuroradiol 2014;24:135–43 doi:10.1007/s00062-013-0235-9 pmid:24240482
    CrossRefPubMed
  23. 23.↵
    1. Jones BV,
    2. Linscott L,
    3. Koberlein G, et al
    . Increased prevalence of developmental venous anomalies in children with intracranial neoplasms. AJNR Am J Neuroradiol 2015;36:1782–85 doi:10.3174/ajnr.A4352 pmid:26021620
    Abstract/FREE Full Text
  24. 24.↵
    1. Meng G,
    2. Bai C,
    3. Yu T, et al
    . The association between cerebral developmental venous anomaly and concomitant cavernous malformation: an observational study using magnetic resonance imaging. BMC Neurol 2014;14:50 doi:10.1186/1471-2377-14-50 pmid:24628866
    CrossRefPubMed
  25. 25.↵
    1. Riant F,
    2. Bergametti F,
    3. Ayrignac X, et al
    . Recent insights into cerebral cavernous malformations: the molecular genetics of CCM. FEBS J 2010;277:1070–75 doi:10.1111/j.1742-4658.2009.07535.x pmid:20096038
    CrossRefPubMed
  26. 26.↵
    1. Linscott LL,
    2. Leach JL,
    3. Jones BV, et al
    . Developmental venous anomalies of the brain in children – imaging spectrum and update. Pediatr Radiology 2016;46:394–406, quiz 391–93 doi:10.1007/s00247-015-3525-3 pmid:26795616
    CrossRefPubMed
  27. 27.↵
    1. Treglia G,
    2. Muoio B,
    3. Trevisi G, et al
    . Diagnostic performance and prognostic value of PET/CT with different tracers for brain tumors: a systematic review of published meta-analyses. Int J Mol Sci 2019;20 doi:10.3390/ijms20194669b pmid:31547109
    CrossRefPubMed
  28. 28.↵
    1. Patay Z,
    2. Orr BA,
    3. Shulkin BL, et al
    . Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria. J Inherit Metab Dis 2015;38:273–77 doi:10.1007/s10545-014-9782-8 pmid:25338511
    CrossRefPubMed
PreviousNext
Back to top

In this issue

American Journal of Neuroradiology: 41 (5)
American Journal of Neuroradiology
Vol. 41, Issue 5
1 May 2020
  • Table of Contents
  • Index by author
  • Complete Issue (PDF)
Advertisement
Print
Download PDF
Email Article

Thank you for your interest in spreading the word on American Journal of Neuroradiology.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome
(Your Name) has sent you a message from American Journal of Neuroradiology
(Your Name) thought you would like to see the American Journal of Neuroradiology web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Cite this article
A. Kerpel, M. Yalon, M. Soudack, J. Chiang, A. Gajjar, K.E. Nichols, Z. Patay, S. Shrot, C. Hoffmann
Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome
American Journal of Neuroradiology May 2020, 41 (5) 904-910; DOI: 10.3174/ajnr.A6512

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
0 Responses
Respond to this article
Share
Bookmark this article
Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome
A. Kerpel, M. Yalon, M. Soudack, J. Chiang, A. Gajjar, K.E. Nichols, Z. Patay, S. Shrot, C. Hoffmann
American Journal of Neuroradiology May 2020, 41 (5) 904-910; DOI: 10.3174/ajnr.A6512
del.icio.us logo Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One
Purchase

Jump to section

  • Article
    • Abstract
    • ABBREVIATIONS:
    • MATERIALS AND METHODS
    • RESULTS
    • DISCUSSION
    • CONCLUSIONS
    • Footnotes
    • References
  • Figures & Data
  • Supplemental
  • Info & Metrics
  • Responses
  • References
  • PDF

Related Articles

  • PubMed
  • Google Scholar

Cited By...

  • No citing articles found.
  • Crossref (6)
  • Google Scholar

This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.

  • ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management
    Chrystelle Colas, Léa Guerrini-Rousseau, Manon Suerink, Richard Gallon, Christian P. Kratz, Éloïse Ayuso, Felipe Andreiuolo, Amedeo A. Azizi, Kevin Beccaria, Birgit Burkhardt, Beatrice Claret, Volodia Dangouloff-ros, Youenn Drouet, Marjolijn C. J. Jongmans, Mariëtte van Kouwen, Clara Ruiz-Ponte, Magali Svrcek, Laurence Brugières, Katharina Wimmer
    European Journal of Human Genetics 2024 32 12
  • Approaches to supratentorial brain tumours in children
    Francisco Sepulveda, Raffaella Scotto Opipari, Fiorenza Coppola, Antonia Ramaglia, Kshitij Mankad, Cesar A. P. Alves, Brigitte Bison, Ulrike Löbel
    Neuroradiology 2024 66 9
  • Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency
    Jose Siju, Arpita Sahu, Kajari Bhattacharya, Maya Prasad, Rajiv Sarin, Tejpal Gupta
    Indian Journal of Radiology and Imaging 2024 34 03
  • Germline predisposition to glial neoplasms in children and young adults
    Anirban Das, Cynthia Hawkins, Uri Tabori
    Glioma 2021 4 4
  • Fetal, Neonatal and Pediatric Neuroradiology
    Stephen Kralik, Nilesh Desai, Avner Meoded, Thierry Huisman
    2024
  • Specific brain MRI features of constitutional mismatch repair deficiency syndrome in children with high-grade gliomas
    Magali Raveneau, Léa Guerrini-Rousseau, Raphael Levy, Charles-Joris Roux, Stéphanie Bolle, François Doz, Franck Bourdeaut, Chrystelle Colas, Thomas Blauwblomme, Kevin Beccaria, Arnault Tauziède-Espariat, Pascale Varlet, Christelle Dufour, Jacques Grill, Nathalie Boddaert, Volodia Dangouloff-Ros
    European Radiology 2024 34 12

More in this TOC Section

  • SyMRI & MR Fingerprinting in Brainstem Myelination
  • Comparison of Image Quality and Radiation Dose in Pediatric Temporal Bone CT Using Photon-Counting Detector CT and Energy-Integrating Detector CT
  • Gad Contrast in PEDS Seizure Evaluation
Show more Pediatrics

Similar Articles

Advertisement

Indexed Content

  • Current Issue
  • Accepted Manuscripts
  • Article Preview
  • Past Issues
  • Editorials
  • Editor's Choice
  • Fellows' Journal Club
  • Letters to the Editor
  • Video Articles

Cases

  • Case Collection
  • Archive - Case of the Week
  • Archive - Case of the Month
  • Archive - Classic Case

More from AJNR

  • Trainee Corner
  • Imaging Protocols
  • MRI Safety Corner
  • Book Reviews

Multimedia

  • AJNR Podcasts
  • AJNR Scantastics

Resources

  • Turnaround Time
  • Submit a Manuscript
  • Submit a Video Article
  • Submit an eLetter to the Editor/Response
  • Manuscript Submission Guidelines
  • Statistical Tips
  • Fast Publishing of Accepted Manuscripts
  • Graphical Abstract Preparation
  • Imaging Protocol Submission
  • Evidence-Based Medicine Level Guide
  • Publishing Checklists
  • Author Policies
  • Become a Reviewer/Academy of Reviewers
  • News and Updates

About Us

  • About AJNR
  • Editorial Board
  • Editorial Board Alumni
  • Alerts
  • Permissions
  • Not an AJNR Subscriber? Join Now
  • Advertise with Us
  • Librarian Resources
  • Feedback
  • Terms and Conditions
  • AJNR Editorial Board Alumni

American Society of Neuroradiology

  • Not an ASNR Member? Join Now

© 2025 by the American Society of Neuroradiology All rights, including for text and data mining, AI training, and similar technologies, are reserved.
Print ISSN: 0195-6108 Online ISSN: 1936-959X

Powered by HighWire