Sejben Anita, Tiszlavicz László, Polyák Kornélia, Kovács László, Maráz Anikó, Török Dóra, Leprán Ádám, Ottlakán Aurél, Furák József
Pathologiai Intézet, Szegedi Tudományegyetem, Általános Orvostudományi Kar Szeged.
Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School Boston, MA, Amerikai Egyesült Államok.
Orv Hetil. 2019 Feb;160(6):228-234. doi: 10.1556/650.2019.31290.
Li-Fraumeni syndrome is a rare genetic disorder predisposing the individual to multiple different cancer types, caused by a germline mutation of the TP53 or CHEK2 genes inherited in an autosomal dominant manner. We hereby describe the case of a family with Li-Fraumeni syndrome. An asymptomatic 40-year-old female was diagnosed with primary lung leiomyosarcoma (T3N0), adenocarcinoma (T1aN0), and inflammatory myofibroblastic tumor, which were surgically removed without further treatment. Twenty months later she underwent surgery for retroperitoneal liposarcoma and even though she received adjuvant chemotherapy, deceased shortly after. Due to family history, the patient underwent TP53 mutation testing, using peripheral blood genomic DNA, which identified a heterozygous, likely pathogenic missense mutation (c.722C>G p.Ser241Cys) in case of the mother and her son. Three years after the patient's death, her 17-year-old son was diagnosed with a 3.5 cm osteosarcoma of the right second rib, which was surgically removed, followed by adjuvant chemotherapy. However, despite treatment, he deceased after two years. Throughout four generations of the patient's family, 10 malignant tumors (stomach-, breast-, 2 lung-, and colon cancer, leukemia, leiomyosarcoma, liposarcoma and 2 osteosarcoma) were diagnosed with a mean age of 43.2 (13-70 years) years. The simultaneous appearance of primary lung leiomyosarcoma, inflammatory myofibroblastic tumor and adenocarcinoma in the same organ is extremely rare. When possible, surgical resection should be carried out. Genetic testing for TP53 is recommended when family history is suggestive of Li-Fraumeni syndrome. Prognosis remains poor. Orv Hetil. 2019; 160(6): 228-234.
李-弗劳梅尼综合征是一种罕见的遗传性疾病，会使个体易患多种不同类型的癌症，由以常染色体显性方式遗传的TP53或CHEK2基因的种系突变引起。我们在此描述一个患有李-弗劳梅尼综合征的家庭病例。一名40岁无症状女性被诊断患有原发性肺平滑肌肉瘤（T3N0）、腺癌（T1aN0）和炎性肌纤维母细胞瘤，这些肿瘤通过手术切除，未进行进一步治疗。20个月后，她接受了腹膜后脂肪肉瘤手术，尽管接受了辅助化疗，但术后不久死亡。由于家族病史，患者使用外周血基因组DNA进行了TP53突变检测，结果在母亲和她儿子身上发现了一个杂合的、可能致病的错义突变（c.722C>G p.Ser241Cys）。患者去世三年后，她17岁的儿子被诊断出右第二肋骨有一个3.5厘米的骨肉瘤，手术切除后进行了辅助化疗。然而，尽管进行了治疗，他在两年后去世。在患者家族的四代人中，共诊断出10例恶性肿瘤（胃癌、乳腺癌、2例肺癌、结肠癌、白血病、平滑肌肉瘤、脂肪肉瘤和2例骨肉瘤），平均发病年龄为43.2岁（13 - 70岁）。同一器官同时出现原发性肺平滑肌肉瘤、炎性肌纤维母细胞瘤和腺癌极为罕见。如有可能，应进行手术切除。当家族病史提示李-弗劳梅尼综合征时，建议进行TP53基因检测。预后仍然很差。《匈牙利医学周报》。2019年；160(6): 228 - 234。
