期刊
FRONTIERS IN ONCOLOGY
卷 13, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fonc.2023.1010871
关键词
niraparib; chemo-refractory; appendiceal mucinous adenocarcinoma; ataxia-telangiectasia mutated (ATM); homologous recombination deficiency
类别
This case report presents a patient with metastatic appendiceal mucinous adenocarcinoma harboring ATM pathological mutation and who achieved a persistent response to niraparib treatment. The findings suggest the potential effectiveness of niraparib in treating appendiceal mucinous adenocarcinoma patients with ATM mutations, but further confirmation is needed in larger cohorts.
BackgroundAppendiceal mucinous adenocarcinoma, one kind of specific colorectal cancer, is lowly prevalent and rarely diagnosed in clinical practice. In addition, there have been limited standard treatment strategies established for patients with appendiceal mucinous adenocarcinoma, especially with metastatic disease. The regimens for colorectal cancer, which were adopted in appendiceal mucinous adenocarcinoma, usually resulted in limited effectiveness. Case presentationHerein, we presented a case of chemo-refractory patient with metastatic appendiceal mucinous adenocarcinoma harboring ATM pathological mutation of exon 60, c.8734del, p.R2912Efs*26, and who has achieved a persistent response to salvage treatment of niraparib, with disease control time that reached 17 months and still in extension. ConclusionsWe supposed that appendiceal mucinous adenocarcinoma patients harboring ATM pathological mutations may respond to the treatment of niraparib, even without a homologous recombination deficiency (HRD) status; however, it needs further confirmation in a larger cohort.
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