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Primary Neuroendocrine Carcinoma of the Anal Canal with Cancer Genome Profiling
Ryuichi Morita1, Seiya Sugeta1, Juichiro Yoshida2
1Department of Gastroenterology and Hepatology, Kyoto Saiseikai Hospital, Japan.
Abstract:
Primary neuroendocrine carcinoma (NEC) of the anal canal is a rare, highly malignant tumor with a poor prognosis. Despite the standard first-line treatment with etoposide or irinotecan combined with cisplatin, effective second-line therapies are lacking. In 2019, Japan approved cancer genome profiling (CGP) tests for solid tumors to enhance genomic understanding. We present the case of a 79-year-old woman with NEC of the anal canal, treated with etoposide, carboplatin, and amrubicin. As Post-standard therapy, CGP suggested pemigatinib, a tyrosine kinase inhibitor; however, the patient died before receiving it. This case highlights the potential of personalized medicine to improve outcomes in such cases.
Insights
Neuroendocrine carcinoma (NEC) of the anal canal is rare and aggressive. Cancer genome profiling identified a potential targeted therapy, pemigatinib, highlighting personalized medicine
Area of Science:
- Oncology
- Genomics
Background:
- Primary neuroendocrine carcinoma (NEC) of the anal canal is a rare, highly malignant tumor with a poor prognosis.
- Standard first-line treatments (etoposide/irinotecan with cisplatin) have limited efficacy for advanced disease, and effective second-line therapies are lacking.
Purpose of the Study:
- To present a case of anal canal NEC treated with standard chemotherapy.
- To explore the utility of cancer genome profiling (CGP) in identifying potential targeted therapies for advanced NEC.
- To highlight the potential of personalized medicine in managing rare and aggressive cancers.
Main Methods:
- The patient received etoposide, carboplatin, and amrubicin as standard therapy.
- Post-standard therapy, cancer genome profiling (CGP) was performed.
- CGP analysis suggested pemigatinib, a tyrosine kinase inhibitor, as a potential targeted treatment.
Main Results:
- The patient received standard chemotherapy but succumbed to the disease before commencing the suggested targeted therapy.
- CGP identified a potential therapeutic target, indicating its value in guiding treatment decisions for NEC.
Conclusions:
- This case underscores the challenges in treating advanced anal canal NEC.
- Cancer genome profiling offers a promising avenue for identifying personalized treatment strategies, such as tyrosine kinase inhibitors, for patients with rare cancers.
- Further research is needed to validate the role of CGP and targeted therapies in improving outcomes for NEC patients.
