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Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan
Background
Acral and mucosal melanomas are more prevalent in Asians than in Caucasians, unlike cutaneous melanomas, which are predominant in Caucasians. Recent studies have suggested that non-Caucasian cutaneous melanomas responded less to immune checkpoint inhibitors, highlighting the need for genetic profiling across ethnicities. This study aimed to elucidate the genetic characteristics of Japanese melanomas, which is an under-researched topic.
Methods
Single-nucleotide variants, indels, and copy number alterations in 104 Japanese melanoma patients (37 cutaneous, 52 acral, and 15 mucosal) were analyzed using custom panel sequencing.
Results
Driver events were detected in 94% of the cases. Among cutaneous melanoma cases, 76% had BRAF mutations, and 8% had NRAS mutations. In acral melanoma, BRAF (9%), NRAS (17%), KRAS (8%), KIT (19%), and NF1 (7%) mutations were detected. Major driver mutations in mucosal melanoma were detected in NRAS, KRAS, NF1, PTEN, GNAQ, and KIT. The median tumor mutational burden across all melanoma types was 4.6 mutations/Mb, with no significant difference between the cutaneous and acral/mucosal types. Of the 21 patients with both primary and metastatic lesions, 11 showed distinct mutations in each. Potentially actionable mutations were detected in 58 patients in addition to BRAF V600E/K mutations in 31.
Conclusions
This study highlights distinct genetic abnormalities and actionable alterations in Japanese melanoma patients. This suggests a lower tumor mutational burden in East Asian cutaneous melanoma, which may affect the efficacy of immune checkpoint inhibitors. The heterogeneity of driver mutations across and within individuals highlights the need for personalized treatment approaches.journal articl
Long-lasting relationships among parents and their sense of solidarity in pediatric cancer treatment for their children: a longitudinal observational study on shared decision-making
Shared decision-making is a global agenda in medicine. We examined the social dimension of shared decision-making in pediatric oncology through a long-term participatory observational study in Japanese pediatric wards. Based on a four-year in-depth observation of the lives of children undergoing long-term cancer therapy, we identified unique social behaviors of the children ’s parents. While taking care of their own children, they also periodically cared for other children with cancer. The close relationships between caregivers continued even after children were discharged from the hospital. These relationships appeared to help alleviate tension prone to arise between parents and children during cancer treatment. Based on these observations, we made a tentative conclusion that parental sense of solidarity in the mutual upbringing of their children could be reflected in their consensus of working in tandem with pediatricians in decisionmaking concerning their children’s therapy.departmental bulletin pape
Progress Report 2: Community Action Research Programme in Niseko, Hokkaido Japan: facilitating improved accessibility of healthcare services and medicine/drugs for both foreign visitors and residents
technical repor
Japanese Traditional Herbal Medicine, Rikkunshito, Partially Suppresses Inflammatory Responses in Myocardial Ischemia/Reperfusion Injury.
札幌医科大学博士(医学)thesi
Prediction of Mismatch Repair Status in Endometrial Cancer from Histological Slide Images Using Various Deep Learning-Based Algorithms
札幌医科大学博士(医学)thesi
Resurgence of human metapneumovirus infection and infl uenza after three seasons of inactivity in the post-COVID-19 era in Hokkaido, Japan, 2022–2023
研究論文紹介北海道では2020年1月のCOVID-19の出現以降,様々な感染対策の徹底により,ヒトメタニューモウイルス(hMPV)感染症やインフルエンザ(Flu)など多くの感染症が激減した.しかし,感染対策の緩和とともに徐々に感染症は再燃し,2022年10,11月をピークにhMPV感染症が,2023年3月をピークにFlu Aが約3年ぶりに北海道で流行した.2023年5月にCOVID-19が5類感染症へと移行し,今後さらなる感染対策の緩和による感染症の拡大に注意が必要である.othe
Dexmedetomidine ameliorates perioperative neurocognitive disorders by suppressing monocyte- derived macrophages in mice with preexisting traumatic brain injury
研究論文紹介【背景】外傷性脳損傷(TBI)は脳障害部位に単球由来マクロファージ(MDMs)を集積し,周術期認知機能障害(PND)を引き起こす.今回我々はデクスメデトミジン(DEX)の麻酔前投与によりTBIマウスモデルのMDMs集積を抑制しPND発症を予防することを証明する.【方法】インパクターを用いTBIを施行した.4週後,全身麻酔薬投与前にDEXを投与し,その2週後,バーンズ迷路を用い認知機能を行動学的に解析し,行動実験2週後脳を摘出し免疫染色及びウェスタンブロッティングを施行した.【結果】バーンズ迷路試験ではTBIマウスはNaive群と比較し認知機能が低下し,MDMsは有意に発現した.一方,DEXはNaive群と比較しいずれも有意差はなかった.【結語】DEX の麻酔前投与によりMDMsの集積が抑制され,PNDが改善した.othe
児童生徒と保護者に行った質問紙調査からみた喫煙防止教育の短期的効果
本研究は,児童生徒を対象に喫煙防止教育を行い,児童生徒とその保護者の喫煙防止の認識及び行動の短期的効果を明らかにすることを目的とした.対象となる340組の児童生徒には喫煙防止授業前・直後・1か月後の3回,保護者には喫煙防止授業前・1か月後の2回,質問紙調査を行った.140組の児童とその保護者の回答の解析の結果,心理社会的ニコチン依存度を示すKano Test for Social Nicotine Dependence(KTSND) youthにおける児童生徒の総得点(中央値)は,授業前4.0,直後2.0と有意に低下したが,1か月後3.0となり,授業前との有意差はなくなった.保護者のKTSND総得点(中央値)は,授業前14.0,1か月後14.0と差がなかった.しかし,児童生徒の57.1%,保護者の80.7%が喫煙防止リーフレットを読み,児童生徒の19.3%,保護者の32.1%がタバコに関する話をした.禁煙を試行する,受動喫煙を減らす家族もおり,喫煙防止教育は家族の喫煙行動を再考する契機になると考えられた.technical repor
The Effort to Overcome Challenging Circumstances Revealed in Comparison Relationships: Lives of Senior Citizens Living Alone under COVID-19 Pandemic
Three years have passed since The World Health Organization declared coronavirus disease (COVID-19) as a pandemic on 11 March 2020. In Japan, we have received benefits from new vaccines and drugs against COVID-19. Under the COVID-19 pandemic, these vaccines and drugs developed and approved outside Japan have been approved by Special Approval for Emergency system in Japan. However, this Special Approval system is not for approval of drugs originally developed in Japan. For approval by this Special Approval system, it is necessary to ensure safety and efficacy of the drug, requiring a time-consuming process. A new emergency approval system has been established in Japan through revision of the Pharmaceutical and Medical Device Act. Although this drug approval system under an emergency situation was established, information of safety and efficacy of the drug should be further accumulated after the approval and the use.journal articl