Efficacy of liquid-based genetic diagnosis of endometrial cancer.
Efficacy of liquid-based genetic diagnosis of endometrial cancer.
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DOI：
10.1111/cas.13819
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发表时间：
2018-12
期刊：
影响因子：
5.7
通讯作者：
Saito T
中科院分区：
文献类型：
--
作者：
Matsuura M;Yamaguchi K;Tamate M;Satohisa S;Teramoto M;Iwasaki M;Sugita S;Hasegawa T;Koubo R;Takane K;Ikenoue T;Furukawa Y;Saito T
尽管与传统涂片细胞学相比，液基细胞学（LBC）提高了子宫内膜癌（EC）细胞学诊断的灵敏度，但LBC检测EC的灵敏度在70%至96%之间，仍然不令人满意。在本研究中，我们通过对48名接受子宫内膜筛查的LBC受试者进行PTEN、PIK 3CA、CTNNB 1、KRAS和TP 53等5种基因的扩增子测序，比较了LBC与液基基因诊断（LBGDx）的疗效。因此，LBC将15个样本分类为“恶性肿瘤阳性或可疑”，这15个样本后来被证实为EC。然而，LBC未能识别5例经阴道超声和子宫内膜刮除诊断为EC的病例，表明单独细胞学检查的敏感性为75%（15/20）。LBGDx在10名受试者中鉴定出11种致病性PTEN变体，9名受试者中鉴定出6种PIK 3CA变体，5名受试者中鉴定出3种CTNNB 1变体，4名受试者中鉴定出2种KRAS变体，3名受试者中鉴定出3种TP 53变体。总的来说，在19例受试者中确定了至少一种致病性变体，其中包括17例EC（15例子宫内膜样癌和2例子宫内膜癌肉瘤）和1例宫颈腺癌。然而，LBGDx在20例EC中的3例中未发现任何致病性突变，表明单独LBGDx的敏感性为85%（17/20）。尽管5例EC经LBC检测为恶性肿瘤阴性，3例经LBGDx检测为致病性突变阴性，但LBC和LBGDx的组合将成功诊断所有20例EC。这些数据表明，LBGDx是一个有用的策略，以提高敏感性的EC LBC的筛选。
Although liquid‐based cytology (LBC) has increased the sensitivity of cytological diagnosis of endometrial cancer (EC) compared with conventional smear cytology, the sensitivity of LBC for the detection of EC is between 70% and 96% and remains unsatisfactory. In the present study, we compared the efficacy of LBC with liquid‐based genetic diagnosis (LBGDx) by amplicon sequencing of five genes including PTEN,PIK3CA,CTNNB1,KRAS, and TP53 in 48 LBC subjects who underwent endometrial screening. Consequently, LBC classified 15 samples as “positive or suspicious for malignancy” and the 15 were later confirmed as EC. However, LBC failed to identify five cases who were diagnosed as EC by additional transvaginal ultrasound and endometrial curettage, indicating that the sensitivity of cytology alone was 75% (15/20). LBGDx identified 11 pathogenic PTEN variants in 10 subjects, six PIK3CA variants in nine, three CTNNB1 variants in five, two KRAS variants in four, and three TP53 variants in three. Collectively, at least one pathogenic variant was identified in 19 subjects, which included 17 EC (15 endometrioid carcinoma and 2 endometrial carcinosarcomas), and one cervical adenocarcinoma. However, LBGDx did not identify any pathogenic mutations in three of the 20 EC, indicating that the sensitivity of LBGDx alone was 85% (17/20). Although five EC were negative for malignancy by LBC and three were negative for pathogenic mutations by LBGDx, the combination of LBC and LBGDx would successfully diagnose all 20 EC. These data suggested that LBGDx is a useful strategy to improve the sensitivity of screening of EC by LBC.
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影响因子：
64.8
作者：
通讯作者：
--
DOI：
10.1056/nejmoa1614814
发表时间：
2017-05-11
期刊：
The New England journal of medicine
影响因子：
--
作者：
Anglesio MS;Papadopoulos N;Ayhan A;Nazeran TM;Noë M;Horlings HM;Lum A;Jones S;Senz J;Seckin T;Ho J;Wu RC;Lac V;Ogawa H;Tessier-Cloutier B;Alhassan R;Wang A;Wang Y;Cohen JD;Wong F;Hasanovic A;Orr N;Zhang M;Popoli M;McMahon W;Wood LD;Mattox A;Allaire C;Segars J;Williams C;Tomasetti C;Boyd N;Kinzler KW;Gilks CB;Diaz L;Wang TL;Vogelstein B;Yong PJ;Huntsman DG;Shih IM
通讯作者：
Shih IM
影响因子：
3.5
作者：
Fujiwara, Hiroyuki;Takahashi, Yoshifumi;Suzuki, Mitsuaki
通讯作者：
Suzuki, Mitsuaki
影响因子：
1.8
作者：
Yanoh, Kenji;Hirai, Yasuo;Norimatsu, Yoshiaki
通讯作者：
Norimatsu, Yoshiaki
影响因子：
17.1
作者：
Kinde I;Bettegowda C;Wang Y;Wu J;Agrawal N;Shih IeM;Kurman R;Dao F;Levine DA;Giuntoli R;Roden R;Eshleman JR;Carvalho JP;Marie SK;Papadopoulos N;Kinzler KW;Vogelstein B;Diaz LA Jr
通讯作者：
Diaz LA Jr