Li-Fraumeni Syndrome-related Malignancies Involving the Genitourinary Tract: Review of a Single-institution Experience.

Journal Article (Journal Article)

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Full Text

Duke Authors

Cited Authors

  • Murray, KS; Spaliviero, M; Tonorezos, ES; Lacouture, ME; Tap, WD; Oeffinger, KC; Vargas, HA; Eastham, JA

Published Date

  • September 2018

Published In

Volume / Issue

  • 119 /

Start / End Page

  • 55 - 61

PubMed ID

  • 29935265

Pubmed Central ID

  • PMC6666395

Electronic International Standard Serial Number (EISSN)

  • 1527-9995

Digital Object Identifier (DOI)

  • 10.1016/j.urology.2018.06.008


  • eng

Conference Location

  • United States