Murray Katie S, Spaliviero Massimiliano, Tonorezos Emily S, Lacouture Mario E, Tap William D, Oeffinger Kevin C, Vargas Hebert Alberto, Eastham James A
Urology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY; Department of Surgery, Division of Urology, University of Missouri, Columbia, MO.
Urology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY; Stony Brook Medicine, SUNY at Stony Brook, Stony Brook, NY.
Urology. 2018 Sep;119:55-61. doi: 10.1016/j.urology.2018.06.008. Epub 2018 Jun 21.
To report a case of pelvic angiosarcoma in a 27-year-old man with Li-Fraumeni Syndrome (LFS) and evaluate the presentation and timeline of genitourinary (GU) tract involvement in LFS patients.
We retrospectively identified 39 LFS patients treated at our institution between 2000 and 2014; 7 (18%) had experienced a GU malignancy or an LFS-related malignancy involving the GU tract. Clinical characteristics, including dates of onset of first GU tract malignancies; pathologic findings; multimodal management; and familial history of LFS were reviewed.
Median age at first malignancy was 14.0 years (interquartile range [IQR] 5.5-24.0). There was a slight male predominance (4 of 7). Median time between first malignancy and the malignancy involving the GU tract was 10.1 years (IQR 8.0-19.5). Six of the 7 patients (86%) had a form of sarcoma involving the GU tract; 1 developed adrenocortical carcinoma. The cancer pedigree of all patients showed LFS-associated malignancies in family members. Multimodal management included surgical resection in 6 patients with adjuvant chemotherapy or radiotherapy in 1 patient each. One patient received chemotherapy only. Following diagnosis of malignancy involving the GU tract, 5 of the 7 patients developed additional primary malignancies. At a median follow-up of 4.7 years (IQR 3.0-12.1), 2 patients are alive, 3 died of disease, and 1 died of unknown cause. One patient was lost at follow-up.
Continued follow-up of LFS cancer patients aimed at the determination of optimal screening, management, and surveillance protocols is recommended and may result in longer survival expectations.
报告一例27岁患有李-弗劳梅尼综合征（LFS）的男性盆腔血管肉瘤病例，并评估LFS患者泌尿生殖道受累的表现及时间进程。
我们回顾性分析了2000年至2014年在我院接受治疗的39例LFS患者；其中7例（18%）发生了泌尿生殖系统恶性肿瘤或涉及泌尿生殖道的LFS相关恶性肿瘤。回顾了临床特征，包括首次泌尿生殖道恶性肿瘤的发病日期；病理结果；多模式治疗；以及LFS家族史。
首次发生恶性肿瘤的中位年龄为14.0岁（四分位间距[IQR]5.5 - 24.0）。男性略占优势（7例中的4例）。首次恶性肿瘤与涉及泌尿生殖道的恶性肿瘤之间的中位时间为10.1年（IQR 8.0 - 19.5）。7例患者中有6例（86%）发生了涉及泌尿生殖道的肉瘤；1例发生肾上腺皮质癌。所有患者的癌症谱系均显示家庭成员中有LFS相关恶性肿瘤。多模式治疗包括6例患者接受手术切除，1例患者接受辅助化疗，1例患者接受放疗。1例患者仅接受化疗。在诊断出涉及泌尿生殖道的恶性肿瘤后，7例患者中有5例发生了额外的原发性恶性肿瘤。中位随访4.7年（IQR 3.0 - 12.1），2例患者存活，3例死于疾病，1例死因不明。1例患者失访。
建议对LFS癌症患者进行持续随访，以确定最佳筛查、治疗和监测方案，这可能会带来更长的生存预期。
