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KAKEN_20K16904seika.pdf
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小児骨肉腫におけるBRCAnessと化学療法感受性に関する検討
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ショウニ コツニクシュ ニ オケル BRCAness ト カガク リョウホウ カンジュセイ ニ カンスル ケントウ
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Shōni kotsunikushu ni okeru BRCAness to kagaku ryōhō kanjusei ni kansuru kentō
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Analysis of BRCAness as a predictive biomarker of neoadjuvant chemotherapy in childhood, adolescents, and young adults with osteosarcomas
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山崎, 文登
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ヤマザキ, フミト
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Yamazaki, Fumito
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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 : 70529354
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市川, 仁
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イチカワ, ヒトシ
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Ichikawa, Hitoshi
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三谷, 幸代
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ミタニ, サチヨ
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Mitani, Sachiyo
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Collaborator
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2022
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科学研究費補助金研究成果報告書
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2021
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小児・AYA世代骨肉腫に、BRCA1/2変異はないが同様の相同組み換え修復機能の異常の関与が考えられるBRCAnessが存在すると考え、24例を対象にSNPアレイ・エクソーム解析でコピー数異常に着目したLOH（loss of heterozygosity）スコア（大領域のLOHの個数）を算出した。骨肉腫のSNPアレイのLOHスコアはBRCA1/2が不活性化した乳がんと同等の水準であった。エクソーム解析の結果も含めて、術前化学療法の感受性が良好と判断される腫瘍壊死率が高い症例では腫瘍壊死率が低い症例に比べてLOHスコアが有意に高かった（20.8 vs 14.9, P=0.023）。
Homologous recombination deficiency (HRD), mainly due to BRCA1/2 inactivation, causes many copy number alterations (CNAs) and structural variations (SVs) in breast and ovarian cancer genomes. Furthermore, similar genomic alterations are observed in BRCA1/2-intact cancers. This phenomenon is called "BRCAness." Osteosarcoma (OS) exhibits a high number of CNAs and SVs. Thus, this study aimed to assess genomic alterations in OS from the viewpoint of HRD. Single nucleotide polymorphism array and whole-exome sequencing analyses were performed on 19 and 5 OSs, respectively, from childhood, adolescents, and young adults. The HRD-LOH (loss of heterozygosity) scores in OSs were as high as those reported in breast cancers, and the scores of good responders to neoadjuvant chemotherapy were higher than those of standard responders (20.8 vs. 14.9, P=0.023). The study results indicate that HRD underlies high genomic alterations in OS and the HRD-LOH score is a predictive biomarker for OS treatment.
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研究種目 : 若手研究
研究期間 : 2020～2021
課題番号 : 20K16904
研究分野 : 小児血液・腫瘍
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