Skip to main content

Advertisement

SpringerLink
Log in

Angioarchitecture and genetic variants of spinal cord cavernous malformations and associated developmental venous anomalies: a case report

  • Case Report
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Cavernous malformations (CM) have long been considered congenital of central nervous system, while the mechanism of CMs detailed development process associated with genetic factors remains unclear. We reported an uncommon case which suffered spinal cord cavernous malformations. In this work, representative samples were obtained, and the sequenced results were described for the first time. A 9-year-old boy was found oblique shoulder with slightly weakness of left limbs; MRI indicated spinal cord cavernous malformations (CMs) located at the C4-C6 vertebral level. On genetic analysis, a shared mutation of PIK3CA (p.H1047R) in CMs and associated developmental venous anomalies (DVAs) was detected, with a different abundance (2% and 7%, respectively), and a somatic mutation of MAP3K3 (p.I441M) was detected in the CM tissue samples. This case provides better knowledge of the formation history and genetic triggers of the DVA-associated CMs. This evidence allows us to speculate the developmental history of the CM lesion: The DVA with PIK3CA mutation might be genetic precursor, and then the associated CM could be derived from terminal cell population of the DVA by acquiring a somatic mutation in MAP3K3.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

Availability of data and material

The data that support the findings of this study are available from the corresponding author Hongqi Zhang, upon reasonable request.

References

  1. Hong T, Xiao X, Ren J et al (2021) Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations. Brain 144(9):2648–2658. https://doi.org/10.1093/brain/awab117

    Article  PubMed  Google Scholar 

  2. Snellings DA, Hong CC, Ren AA et al (2021) Cerebral cavernous malformation: from mechanism to therapy. Circ Res 129(1):195–215. https://doi.org/10.1161/CIRCRESAHA.121.318174

  3. Labauge P, Denier C, Bergametti F, Tournier-Lasserve E (2007) Genetics of cavernous angiomas. Lancet Neurol 6(3):237–244. https://doi.org/10.1016/S1474-4422(07)70053-4

    Article  CAS  PubMed  Google Scholar 

  4. Fischer A, Zalvide J, Faurobert E, Albiges-Rizo C, Tournier-Lasserve E (2013) Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis. Trends Mol Med 19(5):302–308. https://doi.org/10.1016/j.molmed.2013.02.004

    Article  CAS  PubMed  Google Scholar 

  5. Peyre M, Miyagishima D, Bielle F et al (2021) Somatic PIK3CA mutations in sporadic cerebral cavernous malformations. N Engl J Med 385(11):996–1004. https://doi.org/10.1056/NEJMoa2100440

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Snellings DA, Girard R, Lightle R et al (2022) Developmental venous anomalies are a genetic primer for cerebral cavernous malformations. Nat Cardiovasc Res 1:246–252. https://doi.org/10.1038/s44161-022-00035-7

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

We thank the patient for granting permission to publish this information. Thanks to Tianqi Tu M.D made a contribution in the study process.

Funding

This study is supported by the National Natural Science Foundation of China (Award Numbers: 82201440 and 81971113).

Author information

Authors and Affiliations

  1. Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing, 100053, China

    Jian Ren, Tao Hong & Hongqi Zhang

  2. China International Neuroscience Institute, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing, 100053, China

    Jian Ren, Tao Hong & Hongqi Zhang

  3. National Center for Neurological Disorders, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing, 100053, China

    Jian Ren, Tao Hong & Hongqi Zhang

Authors
  1. Jian Ren
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Tao Hong
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Hongqi Zhang
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

Jian Ren collected the data and wrote the manuscript. Tao Hong and Hongqi Zhang designed this idea and checked the manuscript.

Corresponding author

Correspondence to Hongqi Zhang.

Ethics declarations

Ethics approval and consent to participate

The manuscript is an original work and has not been submitted or is under consideration for publication in another journal. This study was approved by the Institutional Ethics Committee. We also confirm that all the listed authors have participated actively in the study and have seen and approved the submitted manuscript.

Consent for publication

The patient had given his consent for this information about himself to appear in the journal and associated publications.

Conflict of interest

The authors have no personal financial or institutional competing interest.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Ren, J., Hong, T. & Zhang, H. Angioarchitecture and genetic variants of spinal cord cavernous malformations and associated developmental venous anomalies: a case report. Childs Nerv Syst 39, 1945–1948 (2023). https://doi.org/10.1007/s00381-023-05887-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-023-05887-3

Keywords

Search

Navigation