磁共振成像诊断胎儿颅内肿瘤一例及其家系遗传学分析

A Case of Fetal Cerebral Tumor Diagnosed by MRI and Family Genetic Analysis

报道了1例胎儿颅内肿瘤病例。该例孕妇于孕24周四维超声提示胎儿颅内混合性回声,考虑颅内占位。我院超声复查亦显示胎儿颅内肿瘤;孕25周于我院行胎儿头磁共振成像(MRI)平扫示胎儿脑干前方肿瘤,邻近组织受压移位;孕29周第2次胎儿头MRI平扫示脑干前肿物较上次体积增大。于孕30+1周行引产手术。术后病理诊断符合MRI诊断。家系全外显子测序结果未发现致病基因变异,但检测到3个意义不明确的基因变异,其中ERBB2基因变异(参考变体:NM_001005862):c.3139C>T p.P1047S,源自其父亲。胎儿的姑姑曾生育一颅内肿瘤女孩,ERBB2基因也发生变异。数据库表明该基因变异的胶质瘤可能有家族聚集,与该病例相符。

We report a case of fetal cerebral tumor and family genetic analysis.In this case,the dimensional ultrasound showed the mixed intracranial echoes in the 24 weeks fetus.On the basis of that,the intracranial space-occupying lesion was considered.Ultrasound re-examination confirmed this consideration.The head magnetic resonance imaging(MRI)at 25 weeks of gestation age showed that the tumor were in the front of the fetal brainstem,and that the adjacent tissues were compressed and displaced.The second fetal MRI scan was done at 29 weeks of gestation age.This MRI showed that the tumor volume had increased.At 30+1 weeks,the mother of the fetus decided to have the option of labor induction.The postoperative pathological diagnosis was consistent with the MRI diagnosis.Whole exome sequencing did not find the pathogenic gene variation,but showed three gene variants with unclear significance.However,there was an interesting phenomenon.The ERBB2 gene variant c.3139C>T p.P1047Ss that originated from the father,was also detected in a cousin girl of the fetus in this family.Therfore,we considered that gliomas with ERBB2 gene mutation may be a family cluster.