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Uterine carcinosarcoma associated with a germline nibrin (NBN) mutation

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Highlights • We report a patient with uterine carcinosarcoma associated with a germline NBN mutation.• Tumor also exhibited a high tumor mutational burden (>10 mutations/Mb)• Patient responded to platinum rechallenge,… Click to show full abstract

Highlights • We report a patient with uterine carcinosarcoma associated with a germline NBN mutation.• Tumor also exhibited a high tumor mutational burden (>10 mutations/Mb)• Patient responded to platinum rechallenge, PARP inhibitor maintenance and immunotherapy.• Patient remains in alive and with disease control for > 4 years after diagnosis.

Keywords: nbn mutation; associated germline; uterine carcinosarcoma; carcinosarcoma associated

Journal Title: Gynecologic Oncology Reports
Year Published: 2022

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