Department of Neurosurgery, University Hospital Coventry and Warwickshire, Clifford Bridge Road, Coventry, CV2 2DX, United Kingdom.
Neurol India. 2022 Jul-Aug;70(4):1639-1642. doi: 10.4103/0028-3886.355080.
Intracranial myxoid mesenchymal tumors (IMMTs) are a relatively new group of tumors, first described in 2017. We report this rare variant in a 27-year-old female which was initially suspected to be a high-grade glial neoplasm. Next-generation sequencing confirmed the presence of fusion between the FET and cAMP response element-binding (CREB) family of genes. This fusion is diagnostic of IMMT, with only 19 such cases reported so far. The authors would like to highlight the need for genomic sequencing for the diagnosis of this tumor, its propensity to recur locally, and its relatively better prognosis as compared to high-grade gliomas.
颅内黏液样间质瘤（IMMT）是一组相对较新的肿瘤，于 2017 年首次描述。我们报告了一例罕见的 27 岁女性患者，最初被怀疑为高级别神经胶质瘤。下一代测序证实 FET 和 cAMP 反应元件结合（CREB）家族基因之间存在融合。这种融合是 IMMT 的诊断标志，目前仅报告了 19 例此类病例。作者希望强调基因组测序对于该肿瘤诊断的必要性，其局部复发倾向，以及与高级别神经胶质瘤相比，其相对较好的预后。
