BRCA関連および散発性卵巣がんの臨床病理学的特徴
J Boyd1, Y Sonoda, M G Federici
1Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA. boydj@mskcc.org
JAMA
|May 12, 2000
まとめ
BRCA変異に関連した遺伝性卵巣がんは,散発性タイプと同様の病理学を示しますが,患者の生存率を改善し,より長い病気のない間隔を提供します. BRCA1関連がんでは年齢の浸透率が高くなります.
科学分野:
- 腫瘍学 腫瘍学
- 遺伝学 遺伝学とは
- 婦人科腫瘍学 婦人科腫瘍学
背景:
- ほとんどの遺伝性卵巣がんは,BRCA1またはBRCA2の生殖系変異と関連しています.
- 卵巣がんの生存におけるBRCA変異状態の臨床的意義については,依然として議論されている.
研究 の 目的:
- 遺伝性卵巣がんの固有の臨床的および病理学的特徴を,散発的なタイプと比較して調査する.
- 患者の生存率と疾患進行に対するBRCA変異ステータスの影響を評価する.
主な方法:
- 総合的ながんセンターにおける933例の卵巣がんを遡及的に調査したコホート研究.
- BRCA1/BRCA2のゲノタイプ化 (88遺伝型,101散発型) を容易にするためにユダヤ系患者に焦点を当てます.
- 分析には,診断時の年齢,ステージ,組織学,グレード,外科的結果,化学療法反応,生存率が含まれていた.
主要な成果:
- 遺伝性がんは,平均年齢の若さで診断される (BRCA1では54歳,BRCA2では62歳;P=.04).
- 遺伝的および散発的な症例の間の類似した組織学,グレード,ステージ,および外科的結果.
- 遺伝的グループは,より長い無病間隔 (14 vs. 7ヶ月; P<.001) と改善された生存率 (P=.004) を示した.
- BRCA変異のステータスは,ステージIIIのがんの独立した予後変数であった (P=.03).
結論:
- BRCAに関連した遺伝性卵巣がんは,散発性がんと外科 / 病理学的特性を共有しています.
- 先進段階の遺伝性卵巣がんの患者は,より長い生存期間を示しています.
- BRCA1関連遺伝性卵巣がんの年齢浸透率は,BRCA2関連遺伝性卵巣がんよりも高い.
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