Case report of penile squamous cell carcinoma continuous treatment with BRCA2 mutation

• Published in: World journal of surgical oncology 2024-02, Vol.22 (1), p.50-50, Article 50
• Main Authors: Zhang, Qing, Li, Yaping, Zhang, Yanrui, Deng, Zhiping, Ding, Yi
• Format: Article
• Language: English
• Subjects: Adenosine diphosphate; Biopsy; BRCA1 protein; BRCA2 mutation; BRCA2 protein; Breast cancer; Cancer; Cancer therapies; Care and treatment; Case report; Chemotherapy; Diagnosis; DNA damage; DNA repair; Double-strand break repair; Gene mutations; Genes; Genetic aspects; Genetic testing; Genital cancers; Health aspects; Health services; Immunotherapy; Lesions; Lungs; Lymphatic system; Magnetic resonance imaging; Malignancy; Medical imaging; Medical prognosis; Metastases; Metastasis; Mutation; Next-generation sequencing; Olaparib; Ovarian cancer; Patient outcomes; Patients; Pembrolizumab; Penile cancer; Penis; Radiation therapy; Radiosurgery; Ribose; Squamous cell carcinoma; Thigh; Treatment; Tumors
• ISSN: 1477-7819; 1477-7819
• DOI: 10.1186/s12957-024-03305-9

Penile squamous cell carcinoma (PSCC) is a highly aggressive malignancy with a poor prognosis. BRCA1/2 mutations are associated with impaired DNA double-strand break repair and are among the common mutations in penile cancer, potentially paving the way for poly ADP-ribose polymerase inhibitor therapy. We report a 65-year-old male with PSCC who progressed to thigh metastasis at 10 months after partial penectomy. Next-generation sequencing showed that the penis primary lesion and metastatic thigh lesion harboured a BRCA2 mutation. Chemotherapy plus immunotherapy was used for treatment, and the thigh metastasis was found to involve no tumour. Progression-free survival (PFS) lasted for 8 months until the appearance of lung metastasis. Afterwards, the patient benefited from second-line therapy of olaparib with pembrolizumab and anlotinib, and his disease was stable for 9 months. The same BRCA2 was identified in the lung biopsy. Given the tumour mutation burden (TMB, 13.97 mutation/Mb), the patient received third-line therapy with nivolumab plus ipilimumab, but PFS only lasted for 3 months, with the appearance of right frontal brain metastasis. Then, the patient was treated with radiation sequential fluzoparib therapy as fourth-line treatment, and the treatment efficacy was evaluated as PR. Currently, this patient is still alive. This is the first report of penile cancer with BRCA2 mutation, receiving a combination treatment with olaparib and experiencing a benefit for 9 months. This case underscores the pivotal role of BRCA2 in influencing treatment response in PSCC, providing valuable insights into the application of targeted therapies in managing recurrent PSCC with BRCA2 alterations. This elucidation establishes a crucial foundation for further research and clinical considerations in similar cases.