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Li-Fraumeni综合征
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Journal Article
Li-Fraumeni综合征
2018
Overview
目的 总结1例以胶质母细胞瘤为临床表现的Li-Fraumeni综合征患者的临床病理学特点.方法与结果 女性患者,33岁,以无明显诱因的左侧肢体抽搐发病,头部MRI显示右侧额顶叶交界区占位性病变,增强扫描病灶呈“花环”样强化征象,行右侧顶叶占位性病变切除术.术中切开右侧顶叶皮质2.50cn,其下即见肿瘤组织,呈椭圆形,大小约5 cm×4cm×3 cm,质地柔软,紫红色,边界清晰,血供丰富,分块全切除肿瘤.组织学形态,胶质细胞异型性增生明显,部分区域呈梭形伴大量瘤巨细胞;免疫组织化学染色,肿瘤细胞胞质表达胶质纤维酸性蛋白、胞核弥漫性表达P53蛋白,Ki-67抗原标记指数为25％;网织纤维染色呈阴性;分子病理学检查未检测到异柠檬酸脱氢酶1/2(IDH1/2)基因外显子4突变、端粒酶逆转录酶(TERT)基因启动子突变和O6-甲基鸟嘌呤DNA甲基转移酶(MGMT)基因甲基化,荧光原位杂交未检测到染色体1p/19q共缺失.病理诊断为(右侧顶叶)胶质母细胞瘤,IDH-野生型(WHOⅣ级).患者共住院15d,出院后随访至2016年,死亡.详细追问家族史得知患者家系有肿瘤病史:其姊罹患右侧乳腺癌,其父因胃癌死亡,祖母因乳腺癌死亡,叔父因肺癌死亡,伯父因造血系统肿瘤死亡.进一步对患者胶质母细胞瘤标本和右侧乳腺浸润性导管癌标本行TP53基因检测,均未检测到突变;对冻存的血液标本行全外显子测序,TP53基因存在c.1009C＞ T(p.Arg337Cys)杂合致病性突变,为错义突变.最终诊断为Li-Fraumeni综合征,该家系诊断为Li-Fraumeni综合征家系.结论 Li-Fraumeni综合征是遗传性肿瘤综合征,呈常染色体显性遗传,以乳腺癌、骨与软组织肉瘤、中枢神经系统肿瘤和肾上腺皮质肿瘤等高肿瘤发病风险为特征,TP53基因是最常见的Li-Fraumeni综合征相关致病基因.
Publisher
300350,天津市环湖医院病理科
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