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

Child's Nervous System volume 39, pages 1945–1948 (2023)Cite this article

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.

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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

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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
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  2. Tao Hong
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  3. Hongqi Zhang
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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.

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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.

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

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The authors have no personal financial or institutional competing interest.

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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

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

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