Patterns of Whole Exome Sequencing in Resected Cholangiocarcinoma.
Patterns of Whole Exome Sequencing in Resected Cholangiocarcinoma.
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DOI：
10.3390/cancers13164062
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发表时间：
2021-08-12
期刊：
影响因子：
5.2
通讯作者：
Melstrom LG
中科院分区：
文献类型：
--
作者：
Thornblade LW;Wong P;Li D;Warner SG;Chang S;Raoof M;Kessler J;Amini A;Lin J;Chung V;Singh G;Fong Y;Melstrom LG
Cholangiocarcinomas are rare cancers that harbor a significant number of potentially targetable mutations. In this study, we assessed the frequency of genomic profiling for resected cholangiocarcinomas. We found that, over the past decade, a third of patients underwent tumor genomic profiling, among whom 89% harbored a targetable mutation. Mutations were associated with a median of one approved drug. A quarter of eligible sequenced patients were treated with therapy targeting tumor-specific mutations. Background: With minimally effective chemotherapy options, cholangiocarcinoma patients have 5 year survival rate of 10%. Tumor genetic profiling (TGP) can identify mutations susceptible to targeted therapies. We sought to describe the use of TGP and frequency of actionable results in resected cholangiocarcinoma. Methods: A retrospective review of patients undergoing curative intent resection at a comprehensive cancer center (2010–2020). Clinicopathologic and partial or whole exome sequencing data were reviewed. Results: 114 patients (mean age 65 ± 11 years, 45% female) underwent resection of cholangiocarcinoma (46% poorly differentiated, 54% intrahepatic, 36% node positive, 75% margin negative). Additionally, 32% of patients underwent TGP, yielding a mean of 3.1 actionable mutations per patient (range 0–14). Mutations aligned with a median of one drug per patient (range 0–11). Common mutations included TP53 (33%), KRAS (31%), IDH1/2 (14%), FGFR (14%), and BRAF (8%). Targeted therapies were administered in only 4% of patients (23% of eligible sequenced patients). After a median 22 months, 23% had recurrence and 29% were deceased. Discussion: TGP for cholangiocarcinoma has increased over the last decade with targeted therapies identified in most sequenced tumors, impacting treatment in a quarter of eligible patients. Precision medicine will play a central role in the future care of cholangiocarcinoma.
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DOI：
10.1016/s1470-2045(20)30157-1
发表时间：
2020-06
期刊：
The Lancet. Oncology
影响因子：
--
作者：
Abou-Alfa GK;Macarulla T;Javle MM;Kelley RK;Lubner SJ;Adeva J;Cleary JM;Catenacci DV;Borad MJ;Bridgewater J;Harris WP;Murphy AG;Oh DY;Whisenant J;Lowery MA;Goyal L;Shroff RT;El-Khoueiry AB;Fan B;Wu B;Chamberlain CX;Jiang L;Gliser C;Pandya SS;Valle JW;Zhu AX
通讯作者：
Zhu AX
影响因子：
28.2
作者：
Saha SK;Gordan JD;Kleinstiver BP;Vu P;Najem MS;Yeo JC;Shi L;Kato Y;Levin RS;Webber JT;Damon LJ;Egan RK;Greninger P;McDermott U;Garnett MJ;Jenkins RL;Rieger-Christ KM;Sullivan TB;Hezel AF;Liss AS;Mizukami Y;Goyal L;Ferrone CR;Zhu AX;Joung JK;Shokat KM;Benes CH;Bardeesy N
通讯作者：
Bardeesy N
影响因子：
51.1
作者：
Subbiah, Vivek;Lassen, Ulrik;Wainberg, Zev A.
通讯作者：
Wainberg, Zev A.
影响因子：
65.1
作者：
Banales, Jesus M.;Cardinale, Vincenzo;Alvaro, Domenico
通讯作者：
Alvaro, Domenico
影响因子：
2.2
作者：
Koeppel, Florence;Bobard, Alexandre;Lacroix, Ludovic
通讯作者：
Lacroix, Ludovic