Germline <i>BRCA1</i> Deletion as Driver Mutation for Metastatic Urachal Adenocarcinoma in Patient Who Achieved Complete Response to Rucaparib

Seto, Tiffany; Pujare, Deepti; Song, Mee-Na; Lee, Jason; Huber, Ryan; Sam, Danny; Pan, Minggui

doi:10.1200/jop.18.00708

Cited by 3 publications

(2 citation statements)

References 6 publications

(8 reference statements)

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“…Most of the included studies were case reports and retrospective case series. The response to EGFR inhibitors, PARP inhibitors, MEK inhibitors and immune checkpoint inhibitors has already been described in eight previous reports (Goss et al, 2005;Testa et al, 2014;Loh et al, 2016a;Collazo-Lorduy et al, 2016;Kardos et al, 2017;Seto et al, 2019;Yonemori et al, 2021)…”

Section: Overall Resultsmentioning

confidence: 81%

“…Notably, some institutions have investigated the efficacy of agents targeted to the BRCA gene. Seto et al (2019) reported the successful use of rucaparib, a PARP inhibitor, in a patient with metastatic UrC who possessed a germline BRCA1 mutation, thus suggesting that patients with BRCA mutations might be candidates for the use of PARP inhibitors. In a phase I dose escalation study, a UrC patient receiving niraparib was reported to experience disease progression during therapy; however, the BRCA status of patients with UrC was not clarified ( Yonemori et al, 2021 ).…”

Section: Evidence Synthesismentioning

confidence: 99%

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Progress and prospects of targeted therapy and immunotherapy for urachal carcinoma

Zheng

Peng

et al. 2023

Front. Pharmacol.

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Introduction: Urachal carcinoma (UrC) is a rare and aggressive disease. Systematic chemotherapy shows limited efficacy in patients with advanced disease, while targeted therapy and immunotherapy may provide a reasonable alternative for specific populations. The molecular pattern of colorectal cancer (CRC) have recently been identified; this understanding has significantly influenced the clinical management of CRC in terms of molecular-targeted therapy. Although some genetic alterations have been associated with UrC, there is still no systematic overview of the molecular profile of this rare malignancy.Methods: In this review, we comprehensively discuss the molecular profile of UrC and further identify potential targets for the personalized treatment of UrC as well as immune checkpoint inhibitors that represent underlying biomarkers. A systematic literature search was carried out by searching the PubMed, EMBASE, and Web of Science databases to identify all literature related to targeted therapy and immunotherapy in urachal carcinoma from inception to February 2023.Results: A total of 28 articles were eligible, and most studies included were case report sand retrospective case series. Furthermore, 420 cases of UrC were identified to analyze the association between mutations and UrC. The most commonly mutated gene in UrC was TP53 with the prevalence of 70%, followed by KRAS mutations in 28.3%, MYC mutations in 20.3%, SMAD4 mutations in 18.2% and GNAS mutations in 18%, amongst other genes.Discussion: The molecular patterns of UrC and CRC are similar yet distinct. Notably, targeted therapy, especially EGFR-targeting therapy, might provide curative efficacy for patients with UrC by applying specific molecular markers. Additional potential biomarkers for the immunotherapy of UrC are mismatch repair (MMR) status and PD-L1 expression profile. In addition, combined regimens featuring targeted agents and immune checkpoint blockers might increase antitumor activity and exert better efficacy in UrC patients with specific mutational burden.

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Section: Overall Resultsmentioning

confidence: 81%

Section: Evidence Synthesismentioning

confidence: 99%

Progress and prospects of targeted therapy and immunotherapy for urachal carcinoma

Zheng

Peng

et al. 2023

Front. Pharmacol.

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Clinical Presentation and Targeted Interventions in Urachal Adenocarcinoma: A Single-Institution Case Series and Review of Emerging Therapies

Mathavan,

Murillo-Alvarez

et al. 2024

Clinical Genitourinary Cancer

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Successful treatment of locally advanced urachal adenocarcinoma with peri-operative gemcitabine –cisplatin combination therapy: a case report andperspective on targeted therapies

Voutsadakis

2020

Cent european J Urol

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Urachal adenocarcinoma is a rare cancer and is treated based on the experience from case series and expert opinion as no randomized studies have been performed. This report adds to the current literature the experience of a patient with locally advanced urachal adenocarcinoma who was treated with combination of neoadjuvant gemcitabine/ cisplatin chemotherapy, surgery and adjuvant chemotherapy and has obtained a long recurrence free survival currently for more than 5 years. Although 5-FU-based chemotherapy is favored by many experts in the treatment of metastatic urachal adenocarcinoma, gemcitabine-based regimens have produced partial responses in metastatic disease and have been used in peri-operative treatment with a manageable adverse effect profile. A brief discussion of molecular lesions in urachal carcinomas and of the emerging role of targeted therapies is included in the current report.

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Germline BRCA1 Deletion as Driver Mutation for Metastatic Urachal Adenocarcinoma in Patient Who Achieved Complete Response to Rucaparib

Abstract: FIG 1. Hematoxylin and eosin staining of the biopsy specimen from the bladder mass, shown in low (left panel) and high (right panel) magnification. The arrow in the left panel indicates the area highlighted in the right panel.

Cited by 3 publications

References 6 publications

Progress and prospects of targeted therapy and immunotherapy for urachal carcinoma

Progress and prospects of targeted therapy and immunotherapy for urachal carcinoma

Clinical Presentation and Targeted Interventions in Urachal Adenocarcinoma: A Single-Institution Case Series and Review of Emerging Therapies

Successful treatment of locally advanced urachal adenocarcinoma with peri-operative gemcitabine –cisplatin combination therapy: a case report andperspective on targeted therapies

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