Abstract:
This article discusses a rare case of coexistent meningiomas and Primary familial brain calcification (PFBC). PFBC is a neurodegenerative disease characterized by brain calcifications and a variety of neuropsychiatric symptoms and signs, with pathogenic variants in specific genes. The study explores the potential link between PFBC and meningiomas, highlighting shared features like intralesional calcifications and common genes such as MEA6. The article also revisits PFBC patients developing other brain tumors, particularly gliomas, emphasizing the intersection of oncogenes like PDGFB and PDGFRB in both calcifications and tumor progression. In recent investigations, attention has extended beyond brain tumors to breast cancer metastasis, unveiling a noteworthy connection. These findings suggest a broader connection between brain calcifications and tumors, encouraging a reevaluation of therapeutic approaches for PFBC.
摘要:
本文讨论了罕见的共存脑膜瘤和原发性家族性脑钙化(PFBC)的病例。PFBC是一种以脑钙化和各种神经精神症状和体征为特征的神经退行性疾病,在特定基因中具有致病变异。这项研究探讨了PFBC和脑膜瘤之间的潜在联系,突出显示共同特征,如病灶内钙化和常见基因,如MEA6。这篇文章还回顾了发展其他脑肿瘤的PFBC患者,尤其是胶质瘤,强调癌基因如PDGFB和PDGFRB在钙化和肿瘤进展中的交叉。在最近的调查中,注意力已经超出了脑肿瘤,转移到乳腺癌,揭示了一个值得注意的联系。这些发现表明脑钙化和肿瘤之间有更广泛的联系,鼓励重新评估PFBC的治疗方法。