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Angioarchitecture and genetic variants of spinal cord cavernous malformations and associated developmental venous anomalies: a case report.
- Source :
-
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2023 Jul; Vol. 39 (7), pp. 1945-1948. Date of Electronic Publication: 2023 Mar 14. - Publication Year :
- 2023
-
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.<br /> (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
- Subjects :
- Male
Humans
Child
Magnetic Resonance Imaging
Spinal Cord diagnostic imaging
Hemangioma, Cavernous, Central Nervous System complications
Hemangioma, Cavernous, Central Nervous System diagnostic imaging
Hemangioma, Cavernous, Central Nervous System genetics
Central Nervous System Vascular Malformations diagnostic imaging
Central Nervous System Vascular Malformations genetics
Central Nervous System Vascular Malformations complications
Nervous System Malformations complications
Subjects
Details
- Language :
- English
- ISSN :
- 1433-0350
- Volume :
- 39
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
- Publication Type :
- Academic Journal
- Accession number :
- 36917268
- Full Text :
- https://doi.org/10.1007/s00381-023-05887-3