Journal of Japanese Society of Oral Oncology
Online ISSN : 1884-4995
Print ISSN : 0915-5988
ISSN-L : 0915-5988
Two cases of malignant tumor in the oral region genetically analyzed by comprehensive cancer genome profiling test
Norihisa IchimuraMasahito FujioShinji UejimaSatoshi YamaguchiNoriyuki YamamotoHideharu Hibi
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2022 Volume 34 Issue 4 Pages 167-173

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Abstract
In recent years, there has been strong demand for the provision of “precision cancer medicine” that provides optimal treatment for each individual. In Japan, a comprehensive cancer genome profiling test started in 2018. We present two cases and discuss the issues involved in applying this test for patients with malignant tumors in the oral region, along with a literature review.
A 79-year-old woman with right lower gingival cancer and a 73-year-old man with left lower gingival malignant melanoma underwent a next-generation sequencing-based multiplex gene assay (NCC Oncopanel test). Both had already received standard treatment and were expecting to finish their standard cancer drug therapy at the time. The former patient was found to have TP53 (R282W) and CDKN2A (R58) gene mutations; the latter patient presented no detectable genetic alterations. Their tumor mutation burdens were 1.6 and 6.2 Muts/Mb, respectively, and both were microsatellite stable. Neither was suspected of having hereditary neoplastic syndrome. According to the results of this test, consensus on a recommended treatment could not be established in the expert panel meeting.
In addition to tumor specific mutations, it is expected that the detection of tumor agnostic mutations and the selection of treatment options based on the results will improve in the future.
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© 2022 Japanese Society of Oral Oncology
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