上衣腫

Precision Medicine for Ependymoma

Point

・上衣腫分子分類のうち，テント上のZFTA融合，テント下（後頭蓋下）のPFA型，脊髄のMYCN増幅が治療抵抗性とされる．

・ZFTA融合テント上上衣腫ではRELA以外にもさまざまな融合遺伝子を形成するが，共通の遺伝子異常が治療標的となる可能性がある．

・PFA型では遺伝子変異がなく，エピジェネティックな機構が腫瘍形成・増殖にかかわることがわかってきている．

・現時点で遺伝子解析によるprecision medicine（個別化医療）の適応となる上衣腫はなく，今後の研究の進歩が望まれる．

　Herein we discuss precision medicine for ependymoma. We reviewed the new molecular classifications of ependymoma, studies on the molecular mechanisms involved in carcinogenesis and proliferation, and the various studies exploring new therapeutic strategies. Of the nine molecular classifications of ependymoma, supratentorial ependymomas with ZFTA fusion, posterior fossa PFA group, and spinal ependymomas with MYCN amplification are treatment-resistant, and candidates for precision medicine. Precision medicine is considered to select a treatment method based on molecular biological information, but its application is thought to be difficult for ependymomas with few somatic mutations. Recent studies have shown that epigenetic mechanisms are involved in the development and growth of PFA ependymomas without recurrent somatic mutations. It has been found that ZFTA forms fusion genes with various genes other than the typical ZFTA-RELA fusion, and a common therapeutic target has been suggested for the genes downstream of it. Unfortunately, these findings have not yet been clinically applied to precision medicine for ependymoma, but newer discoveries are gradually accumulating. Further development of research is warranted.