Comprehensive Genomic Profiling for Therapeutic Decision and Identification of Gene Mutation in Uterine Endometrial Dedifferentiated Carcinoma

Endometrial dedifferentiated carcinoma is a new concept among endometrial malignancies, is rare, and has a poor prognosis as it is discovered in advanced stages and has no established treatment. It has higher rates of gene mutations, such as mismatch repair, than general endometrial cancer and has b...

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Bibliographic Details
Published in:Case reports in oncology 2022, Vol.15 (1), p.46-55
Main Authors: Taira, Yusuke, Shimoji, Yuko, Arakaki, Yoshihisa, Nakamoto, Tomoko, Kudaka, Wataru, Aoki, Yoichi
Format: Article
Language:English
Subjects:
Biomarkers
Case Report
Case reports
Clinical decision making
Colorectal cancer
comprehensive genomic profiling
Endometrial cancer
endometrial dedifferentiated carcinoma
gene mutation
Genetic disorders
Genetic testing
Genomes
Magnetic resonance imaging
Mutation
Targeted cancer therapy
therapeutic target
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Summary:Endometrial dedifferentiated carcinoma is a new concept among endometrial malignancies, is rare, and has a poor prognosis as it is discovered in advanced stages and has no established treatment. It has higher rates of gene mutations, such as mismatch repair, than general endometrial cancer and has been associated with Lynch syndrome. However, due to its heterogeneity, case-by-case searches are needed. Comprehensive genomic profiling by Foundation One® CDx can comprehensively identify over 300 gene mutations via a next-generation sequencer and can evaluate biomarkers, such as the microsatellite status and tumor mutation burden. Therefore, it may be beneficial in identifying therapeutic targets and drugs for diseases whose treatment has not been established. In this case, 13 therapies, including immune checkpoint inhibitor therapy for microsatellite instability-High and 40 clinical trials for several gene mutations might be beneficial. We report a case of endometrial dedifferentiated carcinoma for which Foundation One® CDx gene profiling was used to propose treatment.
ISSN:1662-6575
1662-6575
DOI:10.1159/000521897