- 期刊
Treatment of Multiple Well-Differentiated Liposarcomas with Good Results in a Case of Li-Fraumeni-Syndrome - Case Report and Review of the Literature
對於多發性分化良好型脂肪肉瘤之治療效果良好的李－佛美尼症候群－罕見病例報告及文獻回顧
摘要
Background: Li-Fraumeni-Syndrome (LFS) is a rare autosomal-dominant, inherited tumor predisposition syndrome associated with heterozygous germline mutations in the tumor protein p53 (TP53) gene. Patients with LFS are at a high risk to develop early-onset (usually younger than age of 45) breast cancer and multiple malignancies, among which sarcomas are the most common. A high incidence of childhood tumors and close to 100% penetrance has been described. Knowledge of the genetic status of the TP53 gene through genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide diagnosis of at-risk relatives. Aim and Objectives: We present a case with multiple well-differentiated liposarcoma as the expression of Li-Fraumeni-Syndrome, who harbors heterozygous, pathogenic TP53 germline mutation. The peri-/post-operatively sixty-month long follow-up condition in diagnosis and surgical treatment were documented in order to raise surgeons' awareness of this rare disease. Materials and Methods: We present a 42-year-old male patient who was affected by multiple well-differentiated liposarcomas of his neck, back and lumbar region. Because of the early-onset multiple soft tissue sarcomas and strong family history of malignancy, genetic screening was carried out and revealed a pathogenic TP53 mutation consistent with Li-Fraumeni Syndrome. Whole body PET scan did not reveal any metastatic tumor at the time of diagnosis. En-bloc excision with minimal 3 cm surgical margin and adequate reconstruction with split-thickness skin graft. Results: The functions of the trunk and upper limbs were well-preserved and no tumor recurrence during his 5-year follow-up. His family members were enrolled in the molecular genetic testing and found his elder sister got the similar pathogenic TP53 mutation. Fortunately, no evidence showed malignant tumor to date and she was followed by regular medical surveillance. Conclusion: Management of patients with LFS is different from the general population because of their risk for secondary cancers. Recognition of this lesion and its association is important for early diagnosis and subsequent tumor surveillance in the probing and affected family members.
並列摘要
背景：李－佛美尼症候群（Li-Fraumeni Syndrome）是一種罕見的自體顯性遺傳疾病。這種多發性腫瘤症候群是由於TP53基因的致病性生殖細胞突變（germline mutation）。有這種徵候的人通常會有極高機率罹患各種腫瘤與癌症。主要的特徵有早發性的癌症（通常小於45歲）、同時發生多重部位癌症或肉瘤。透過基因檢測了解該類患者TP53的基因狀態將有助於協助擬定治療方針與其他處置，同時，識別致病變項也將引導其高風險親屬接受相關的篩檢和追蹤診斷。目的及目標：我們報告一個案例，以分化良好型脂肪肉瘤為李－佛美尼症候群（Li-Fraumeni syndrome）之表現，其TP53基因帶有致病性生殖細胞突變（germline mutation）。該病患經歷多次腫瘤完整切除與重建後持續追蹤五年沒有復發，藉由探討此段期間內疾病治療的過程、症狀改善進度與相關併發症，提升大家對此罕見疾病的關注，以期未來能嘉惠更多相關疾病患者。材料及方法：一位42歲男性，於頸部、背部與腰椎區域出現多發性分化良好型脂肪肉瘤。由於這種早發的多發性軟組織肉瘤合併家族中諸多惡性腫瘤史，致李－佛美尼症候群（Li-Fraumeni-Syndrome）被高度懷疑，爾後以基因檢測出致病性的TP53突變證實。該患者全身正子－電腦斷層掃描並沒有發現其他疑似惡性腫瘤的蹤跡，他接受廣泛根除性腫瘤切除手術（肉眼下至少3公分之腫瘤切除邊緣），並成功使用分層皮膚移植為此大面積缺陷做重建。結果：至今追蹤五年期間，完整保留其軀幹以及肢體活動功能性，亦無腫瘤復發的情形。患者的親屬也接受了基因檢測，在其姊姊身上有發現了類似的致病性突變，儘管目前沒有發現存在惡性腫瘤，仍遵照建議定期進行篩檢。結論：由於其常見的多重次發性癌症，治療李－佛美尼症候群（Li-Fraumeni-Syndrome）患者的現存腫瘤必須要跳脫一般思維，除了正確診斷以利後續治療，亦必須及早識別其他關聯，對於在往後的腫瘤監測以及對於可能受影響的家庭成員進行早期篩檢、診斷非常重要。