Primary Neuroendocrine Carcinoma of the Anal Canal with Cancer Genome Profiling

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.

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Publication Details

Journal
Internal Medicine
Published
2024-10-10
DOI
https://doi.org/10.2169/internalmedicine.4289-24
Primary Topic
Colorectal and Anal Carcinomas
Type
article
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article

Primary Neuroendocrine Carcinoma of the Anal Canal with Cancer Genome Profiling

Tomoyuki Ohno, Tomohiro Ueda, Tasuku Hara, Naohisa Yoshida et al.
Internal Medicine
Colorectal and Anal Carcinomas
article

Primary Neuroendocrine Carcinoma of the Anal Canal with Cancer Genome Profiling

Tomoyuki Ohno, Tomohiro Ueda, Tasuku Hara, Naohisa Yoshida, Eiichi Konishi, Nobuaki Fuji, Akiko Shibuya, Seiya Sugeta, Yasutaka Morimoto, Tomoki Nakajima, Ryuichi Morita, Juichiro Yoshida
article en

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.

Internal MedicineVol. 64(9)
Kyoto Prefectural University of Medicine (JP), Fukui-ken Saiseikai Hospital (JP), Japanese Red Cross Society Kyoto Daini Hospital (JP)
Good health and well-being
Openalex Percentile: Top 67%
Colorectal and Anal Carcinomas
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Primary Neuroendocrine Carcinoma of the Anal Canal with Cancer Genome Profiling — Tomoyuki Ohno, Tomohiro Ueda, et al. · Internal Medicine (2024) | TGRS Research Map | TGRS