Circulating tumour DNA characterisation of invasive lobular carcinoma in patients with metastatic breast cancer.
Circulating tumour DNA characterisation of invasive lobular carcinoma in patients with metastatic breast cancer.
复制标题
DOI：
10.1016/j.ebiom.2022.104316
复制
发表时间：
2022-12
期刊：
影响因子：
11.1
通讯作者：
Cristofanilli, Massimo
中科院分区：
文献类型：
--
作者：
Davis, Andrew A.;Gerratana, Lorenzo;Clifton, Katherine;Medford, Arielle J.;Velimirovic, Marko;Hensing, Whitney L.;Bucheit, Leslie;Shah, Ami N.;D'Amico, Paolo;Reduzzi, Carolina;Zhang, Qiang;Dai, Charles S.;Denault, Elyssa N.;Bagegni, Nusayba A.;Opyrchal, Mateusz;Ademuyiwa, Foluso O.;Bose, Ron;Gradishar, William J.;Behdad, Amir;Ma, Cynthia X.;Bardia, Aditya;Cristofanilli, Massimo
有限的数据存在于侵袭性小叶癌（ILC）患者循环肿瘤DNA（ctDNA）的分子差异。我们分析了转移性乳腺癌患者的ctDNA检测，以评估ILC，浸润性导管癌（IDC）和混合组织学患者的基因组差异。我们回顾性分析了来自三个学术中心的980例临床注释患者（121例ILC，792例IDC和67例混合组织学），并通过Guardant 360 ™进行ctDNA评估。单核苷酸变异（SNVs），拷贝数变异（CNVs）和致癌途径进行了比较，在不同的组织学。ILC与HR+ HER 2阴性和HER 2低显著相关。与IDC或混合组织学相比，ILC患者的SNV更高（Mann Whitney U检验，P < 0.05）。在多变量分析中，HR+ HER 2阴性ILC与CDH 1（比值比（OR）9.4，[95% CI 3.3-27.2]）、ERBB 2（OR 3.6，[95%置信区间（CI）1.6-8.2]）和PTEN（OR 2.5，[95% CI 1.05-5.8]）基因突变显著相关。混合组织学队列中不存在CDH 1突变。PI 3 K途径基因突变（OR 1.76 95%CI [1.18-2.64]）在ILC患者中更常见。在近7000名转移性乳腺癌患者的独立队列中，CDH 1与靶向改变（PIK 3CA、ERBB 2）和与内分泌抗性相关的突变（ARID 1A、NF 1、RB 1、ESR 1、FGFR 2）显著共突变（Benjamini-Hochberg程序，所有q < 0.05）。ctDNA的评估揭示了乳腺癌组织学中致病性改变和致癌途径的差异，这对组织学分类和精确药物治疗具有意义。、和UL 1 TR 001422。
Limited data exist to characterise molecular differences in circulating tumour DNA (ctDNA) for patients with invasive lobular carcinoma (ILC). We analysed metastatic breast cancer patients with ctDNA testing to assess genomic differences among patients with ILC, invasive ductal carcinoma (IDC), and mixed histology. We retrospectively analysed 980 clinically annotated patients (121 ILC, 792 IDC, and 67 mixed histology) from three academic centers with ctDNA evaluation by Guardant360™. Single nucleotide variations (SNVs), copy number variations (CNVs), and oncogenic pathways were compared across histologies. ILC was significantly associated with HR+ HER2 negative and HER2 low. SNVs were higher in patients with ILC compared to IDC or mixed histology (Mann Whitney U test, P < 0.05). In multivariable analysis, HR+ HER2 negative ILC was significantly associated with mutations in CDH1 (odds ratio (OR) 9.4, [95% CI 3.3–27.2]), ERBB2 (OR 3.6, [95% confidence interval (CI) 1.6–8.2]), and PTEN (OR 2.5, [95% CI 1.05–5.8]) genes. CDH1 mutations were not present in the mixed histology cohort. Mutations in the PI3K pathway genes (OR 1.76 95% CI [1.18–2.64]) were more common in patients with ILC. In an independent cohort of nearly 7000 metastatic breast cancer patients, CDH1 was significantly co-mutated with targetable alterations (PIK3CA, ERBB2) and mutations associated with endocrine resistance (ARID1A, NF1, RB1, ESR1, FGFR2) (Benjamini–Hochberg Procedure, all q < 0.05). Evaluation of ctDNA revealed differences in pathogenic alterations and oncogenic pathways across breast cancer histologies with implications for histologic classification and precision medicine treatment. , , and UL1TR001422.
登录
查看更多内容
癌症基因组地图集中的致癌信号通路。
影响因子：
64.5
作者：
Sanchez-Vega F;Mina M;Armenia J;Chatila WK;Luna A;La KC;Dimitriadoy S;Liu DL;Kantheti HS;Saghafinia S;Chakravarty D;Daian F;Gao Q;Bailey MH;Liang WW;Foltz SM;Shmulevich I;Ding L;Heins Z;Ochoa A;Gross B;Gao J;Zhang H;Kundra R;Kandoth C;Bahceci I;Dervishi L;Dogrusoz U;Zhou W;Shen H;Laird PW;Way GP;Greene CS;Liang H;Xiao Y;Wang C;Iavarone A;Berger AH;Bivona TG;Lazar AJ;Hammer GD;Giordano T;Kwong LN;McArthur G;Huang C;Tward AD;Frederick MJ;McCormick F;Meyerson M;Cancer Genome Atlas Research Network;Van Allen EM;Cherniack AD;Ciriello G;Sander C;Schultz N
通讯作者：
Schultz N
影响因子：
11.1
作者：
Davis, Andrew A.;Jacob, Saya;Cristofanilli, Massimo
通讯作者：
Cristofanilli, Massimo
转移性组织学特殊类型的浸润性乳腺癌的基因组景观。
影响因子：
5.9
作者：
Pareja F;Ferrando L;Lee SSK;Beca F;Selenica P;Brown DN;Farmanbar A;Da Cruz Paula A;Vahdatinia M;Zhang H;Zoppoli G;Wen HY;Brogi E;Robson ME;Razavi P;Chandarlapaty S;Weigelt B;Reis-Filho JS
通讯作者：
Reis-Filho JS
影响因子：
28.2
作者：
Bose R;Kavuri SM;Searleman AC;Shen W;Shen D;Koboldt DC;Monsey J;Goel N;Aronson AB;Li S;Ma CX;Ding L;Mardis ER;Ellis MJ
通讯作者：
Ellis MJ
影响因子：
64.5
作者：
Ciriello G;Gatza ML;Beck AH;Wilkerson MD;Rhie SK;Pastore A;Zhang H;McLellan M;Yau C;Kandoth C;Bowlby R;Shen H;Hayat S;Fieldhouse R;Lester SC;Tse GM;Factor RE;Collins LC;Allison KH;Chen YY;Jensen K;Johnson NB;Oesterreich S;Mills GB;Cherniack AD;Robertson G;Benz C;Sander C;Laird PW;Hoadley KA;King TA;TCGA Research Network;Perou CM
通讯作者：
Perou CM