Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing, 100053, China.
China International Neuroscience Institute, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing, 100053, China.
Childs Nerv Syst. 2023 Jul;39(7):1945-1948. doi: 10.1007/s00381-023-05887-3. Epub 2023 Mar 14.
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.
海绵状血管畸形（CM）长期以来被认为是中枢神经系统的先天性疾病，而与遗传因素相关的 CM 详细发育过程的机制仍不清楚。我们报告了一例罕见的脊髓海绵状血管畸形病例。在本工作中，我们获得了代表性样本，并首次描述了测序结果。一名 9 岁男孩被发现斜肩，左侧肢体轻度无力；MRI 显示 C4-C6 椎体水平脊髓海绵状血管畸形（CMs）。在遗传分析中，在 CMs 和相关发育性静脉异常（DVAs）中检测到 PIK3CA（p.H1047R）的共享突变，丰度分别为 2%和 7%，并且在 CM 组织样本中检测到 MAP3K3（p.I441M）的体细胞突变。该病例为 DVA 相关 CMs 的形成历史和遗传触发因素提供了更好的认识。这一证据使我们可以推测 CM 病变的发育史：具有 PIK3CA 突变的 DVA 可能是遗传前体，然后相关的 CM 可能是通过在 MAP3K3 中获得体细胞突变，从 DVA 的终末细胞群体中衍生而来。
