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

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机构： [1]Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing 100053, China [2]China International Neuroscience Institute, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing 100053, China [3]National Center for Neurological Disorders, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing 100053, China

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关键词： Spinal cord cavernous malformations Genetic analysis PIK3CA MAP3K3 Case report

摘要：

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.© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

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出版当年[2022]版：

大类 | 4 区医学

小类 | 4 区外科 4 区儿科 4 区临床神经病学

最新[2023]版：

大类 | 4 区医学

小类 | 4 区临床神经病学 4 区儿科 4 区外科

JCR分区：

出版当年[2021]版：

Q4 CLINICAL NEUROLOGY Q4 PEDIATRICS Q4 SURGERY

最新[2023]版：

Q3 SURGERY Q3 PEDIATRICS Q4 CLINICAL NEUROLOGY

影响因子： 1.3 最新[2023版] 1.5 最新五年平均 1.532 出版当年[2021版] 1.715 出版当年五年平均 1.475 出版前一年[2020版] 1.4 出版后一年[2022版]

第一作者：

第一作者机构： [1]Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing 100053, China [2]China International Neuroscience Institute, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing 100053, China [3]National Center for Neurological Disorders, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing 100053, China

通讯作者：

通讯机构： [1]Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing 100053, China [2]China International Neuroscience Institute, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing 100053, China [3]National Center for Neurological Disorders, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing 100053, China

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

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