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KAKEN_18K16812seika.pdf
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遺伝性婦人科悪性腫瘍に対する新たな発症機構の分子疫学的解析
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Kana |
イデンセイ フジンカ アクセイ シュヨウ ニ タイスル アラタナ ハッショウ キコウ ノ ブンシ エキガクテキ カイセキ
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Idensei fujinka akusei shuyō ni taisuru aratana hasshō kikō no bunshi ekigakuteki kaiseki
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Molecular and epidemiological analysis for new carcinogenesis mechanism in hereditary gynecological cancer
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辻, 浩介
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ツジ, コウスケ
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Tsuji, Kōsuke
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慶應義塾大学・医学部 (信濃町) ・助教
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Research team head
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科研費研究者番号 : 70528166
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2020
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科学研究費補助金研究成果報告書
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2019
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遺伝性婦人科腫瘍であるリンチ症候群は、その特徴であるマイクロ不安定性 (MSI) が免疫チェックポイント阻害薬の治療選択として注目されている。我々は、卵巣癌におけるリンチ症候群の診断ツールとしてSGO基準の有用性を示した。また、卵巣癌と子宮体癌の重複例でLynch症候群が7/33 (21.2%) と多く、さらに腫瘍のゲノム解析では、子宮体癌、卵巣癌両原発巣において、高腫瘍変異量 (>10mutations/Mb) が示された。変異遺伝子の追加解析で、各原発癌の発癌メカニズムが特徴づけられると期待される。また、進行・再発癌のMSI解析から、子宮頸癌ではMSI-highは認められないことが示された。
The characteristic feature of Lynch syndrome, one of a hereditary gynecological tumors, is microsatellite instability (MSI), which has been attracting attention as a companion diagnostics for immune checkpoint inhibitors. We proved the usefulness of the SGO criteria as a diagnostic tool for Lynch syndrome in ovarian cancer. In addition, Lynch syndrome is common in 7/33 (21.2%) cases of double cancer of ovarian and endometrial cancer. In addition, genomic analysis of these tumors revealed tumor mutation burden-high (> 10 mutations/ Mb) in both endometrial cancer and ovarian cancer. Further analysis of these mutated genes is expected to reveal the carcinogenic mechanism of each primary cancer. In addition, MSI analysis of advanced or recurrent gynecological cancers showed that MSI-high was not observed in cervical cancer.
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研究種目 : 若手研究
研究期間 : 2018~2019
課題番号 : 18K16812
研究分野 : 婦人科腫瘍
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