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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The data that support the findings of this study are available from the corresponding author Hongqi Zhang, upon reasonable request.
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We thank the patient for granting permission to publish this information. Thanks to Tianqi Tu M.D made a contribution in the study process.
This study is supported by the National Natural Science Foundation of China (Award Numbers: 82201440 and 81971113).
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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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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