Li-Fraumeni Syndrome-related malignancies involving the genitourinary tract: Review of a single-institution experience Journal Article


Authors: Murray, K. S.; Spaliviero, M.; Tonorezos, E. S.; Lacouture, M. E.; Tap, W. D.; Oeffinger, K. C.; Vargas, H. A.; Eastham, J. A.
Article Title: Li-Fraumeni Syndrome-related malignancies involving the genitourinary tract: Review of a single-institution experience
Abstract: 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. © 2018
Journal Title: Urology
Volume: 119
ISSN: 0090-4295
Publisher: Elsevier Science, Inc.  
Date Published: 2018-09-01
Start Page: 55
End Page: 61
Language: English
DOI: 10.1016/j.urology.2018.06.008
PROVIDER: scopus
PUBMED: 29935265
DOI/URL:
Notes: Article -- Export Date: 1 November 2018 -- Source: Scopus
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MSK Authors
  1. Mario E Lacouture
    248 Lacouture
  2. Kevin Oeffinger
    248 Oeffinger
  3. James Eastham
    422 Eastham
  4. William Douglas Tap
    118 Tap
  5. Katie S Murray
    13 Murray