PDF(Pubmed)
Abstract：
We herein present the case of a 33-year-old woman with no family history of metachronous bilateral breast cancer and osteosarcoma, diagnosed with Li-Fraumeni syndrome (LFS), which is a rare autosomal dominant hereditary cancer syndrome associated with a germline TP53 variant. She was diagnosed with left distal femoral osteosarcoma at the age of 16, and metachronous bilateral breast cancer at the ages of 29 and 33. When the third cancer was diagnosed, a hereditary tumor syndrome was suspected and the patient was referred to our genetic outpatient clinic. There was no family history of the \'core\' cancers for LFS, but since the patient met Chompret\'s criteria, germline TP53 genetic testing was performed with the patient\'s will. A pathogenic variant, TP53:c.216dupC (p.Val73ArgfsX76) was found in exon 4 of the gene. This case is didactic because radiotherapy was performed on the first breast cancer before the diagnosis of LFS was made; radiation should be avoided if there are other options in LFS because of the inability to repair DNA damage. As a lesson learned, oncologists reaffirmed the importance of being aware of hereditary tumors from the keywords \"multiple,\" \"young,\" \"familial,\" and \"rare,\" and consulting the genetic department. In addition, surveillance using whole-body magnetic resonance imaging is recommended in LFS. However, this system is not yet provided nationwide, but we have newly settled it in our hospital.
摘要：
我们在此介绍一例33岁女性，无异时性双侧乳腺癌和骨肉瘤家族史，诊断为Li-Fraumeni综合征（LFS），这是一种罕见的常染色体显性遗传性癌症综合征，与种系TP53变异有关。她在16岁时被诊断为左侧股骨远端骨肉瘤，在29岁和33岁时被诊断为异型双侧乳腺癌。当第三个癌症被诊断出来时，我们怀疑有遗传性肿瘤综合征,并将患者转诊至我们的遗传门诊.没有LFS的核心癌症家族史，但既然病人符合Chompret的标准,种系TP53基因检测是根据患者意愿进行的。一种致病变体，TP53：c.216dupC（p。Val73ArgfsX76)在该基因的外显子4中发现。这种情况是有说服力的，因为在诊断LFS之前对第一例乳腺癌进行了放射治疗；如果由于无法修复DNA损伤，LFS中有其他选择，则应避免辐射。作为一个教训，肿瘤学家重申了从关键词“多重，\"\"年轻，\"\"家族性,\"和\"罕见，“并咨询遗传部门。此外,建议在LFS中使用全身磁共振成像进行监测.然而,该系统尚未在全国范围内提供，但我们刚在医院安顿下来.
