The clonal relation of primary upper urinary tract urothelial carcinoma and paired urothelial carcinoma of the bladder

被引：18

作者：

van Doeveren, Thomas ^{[1
]}

Nakauma-Gonzalez, Jose A. ^{[1
,2
,3
]}

Mason, Andrew S. ^{[4
,5
]}

van Leenders, Geert J. L. H. ^{[6
]}

Zuiverloon, Tahlita C. M. ^{[1
]}

Zwarthoff, Ellen C. ^{[6
]}

Meijssen, Isabelle C. ^{[6
]}

van der Made, Angelique C. ^{[6
]}

van Der Heijden, Antoine G. ^{[7
]}

Hendricksen, Kees ^{[8
]}

van Rhijn, Bas W. G. ^{[8
,9
]}

Voskuilen, Charlotte S. ^{[8
]}

van Riet, Job ^{[1
,3
]}

Dinjens, Winand N. M. ^{[6
]}

Dubbink, Hendrikus J. ^{[6
]}

van de Werken, Harmen J. G. ^{[1
,3
]}

Boormans, Joost L. ^{[1
]}

机构：

[1] Erasmus MC, Inst Canc, Univ Med Ctr, Dept Urol, Rotterdam, Netherlands

[2] Erasmus MC, Inst Canc, Univ Med Ctr, Dept Med Oncol, Rotterdam, Netherlands

[3] Erasmus MC, Inst Canc, Univ Med Ctr, Canc Computat Biol Ctr, Rotterdam, Netherlands

[4] Univ York, Dept Biol, Jack Birch Unit Mol Carcinogenesis, York, N Yorkshire, England

[5] Univ York, York Biomed Res Inst, York, N Yorkshire, England

[6] Erasmus MC, Inst Canc, Univ Med Ctr, Dept Pathol, Rotterdam, Netherlands

[7] Radboud Univ Nijmegen, Med Ctr, Radboud Inst Hlth Sci, Dept Urol, Nijmegen, Netherlands

[8] Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Dept Urol, Amsterdam, Netherlands

[9] Univ Regensburg, Caritas St Josef Med Ctr, Dept Urol, Regensburg, Germany

来源：

INTERNATIONAL JOURNAL OF CANCER | 2021年 / 148卷 / 04期

关键词：

bladder carcinoma; clonality; upper urinary tract carcinoma; urothelial carcinoma; FREQUENCY; CANCER;

D O I：

10.1002/ijc.33327

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The risk of developing urothelial carcinoma of the bladder (UCB) in patients treated by radical nephroureterectomy (RNU) for an upper urinary tract urothelial carcinoma (UTUC) is 22% to 47% in the 2 years after surgery. Subject of debate remains whether UTUC and the subsequent UCB are clonally related or represent separate origins. To investigate the clonal relationship between both entities, we performed targeted DNA sequencing of a panel of 41 genes on matched normal and tumor tissue of 15 primary UTUC patients treated by RNU who later developed 19 UCBs. Based on the detected tumor-specific DNA aberrations, the paired UTUC and UCB(s) of 11 patients (73.3%) showed a clonal relation, whereas in four patients the molecular results did not indicate a clear clonal relationship. Our results support the hypothesis that UCBs following a primary surgically resected UTUC are predominantly clonally derived recurrences and not separate entities.

引用

页码：981 / 987

页数：7

共 16 条

[1] Telomerase Reverse Transcriptase Promoter Mutations in Bladder Cancer: High Frequency Across Stages, Detection in Urine, and Lack of Association with Outcome [J].

Allory, Yves ;

Beukers, Willemien ;

Sagrera, Ana ;

Flandez, Marta ;

Marques, Miriam ;

Marquez, Mirari ;

van der Keur, Kirstin A. ;

Dyrskjot, Lars ;

Lurkin, Irene ;

Vermeij, Marcel ;

Carrato, Alfredo ;

Lloreta, Josep ;

Lorente, Jose A. ;

Pau, Enrique Carrillo-de Santa ;

Masius, Roy G. ;

Kogevinas, Manolis ;

Steyerberg, Ewout W. ;

van Tilborg, Angela A. G. ;

Abas, Cheno ;

Orntoft, Torben F. ;

Zuiverloon, Tahlita C. M. ;

Malats, Nuria ;

Zwarthoff, Ellen C. ;

Real, Francisco X. .

EUROPEAN UROLOGY, 2014, 65 (02) :360-366

[2] Clonal Relatedness and Mutational Differences between Upper Tract and Bladder Urothelial Carcinoma [J].

Audenet, Francois ;

Isharwal, Sumit ;

Cha, Eugene K. ;

Donoghue, Mark T. A. ;

Drill, Esther N. ;

Ostrovnaya, Irina ;

Pietzak, Eugene J. ;

Sfakianos, John P. ;

Bagrodia, Aditya ;

Murugan, Paari ;

Dalbagni, Guido ;

Donahue, Timothy F. ;

Rosenberg, Jonathan E. ;

Bajorin, Dean F. ;

Arcila, Maria E. ;

Hechtman, Jaclyn F. ;

Berger, Michael F. ;

Taylor, Barry S. ;

Al-Ahmadie, Hikmat ;

Iyer, Gopa ;

Bochner, Bernard H. ;

Coleman, Jonathan A. ;

Solit, David B. .

CLINICAL CANCER RESEARCH, 2019, 25 (03) :967-976

[3] Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome [J].

Donahue, Timothy E. ;

Bagrodia, Aditya ;

Audenet, Francois ;

Donoghue, Mark T. A. ;

Cha, Eugene K. ;

Sfakianos, John P. ;

Sperling, Dahlia ;

Al-Ahmadie, Hikmat ;

Clendenning, Mark ;

Rosty, Christophe ;

Buchanan, Daniel D. ;

Jenkins, Mark ;

Hopper, John ;

Winship, Ingrid ;

Templeton, Allyson S. ;

Walsh, Michael F. ;

Stadler, Zsofia K. ;

Iyer, Gopa ;

Taylor, Barry ;

Coleman, Jonathan ;

Lindor, Noralane M. ;

Solit, David B. ;

Bochner, Bernard H. .

JCO PRECISION ONCOLOGY, 2018, 2 :1-13

[4] Mutagenic Factors and Complex Clonal Relationship of Multifocal Urothelial Cell Carcinoma [J].

Du, Yiqing ;

Li, Ruoyan ;

Chen, Zhanghua ;

Wang, Xiaofeng ;

Xu, Tao ;

Bai, Fan .

EUROPEAN UROLOGY, 2017, 71 (05) :841-843

[5] Diagnostic Detection of Allelic Losses and Imbalances by Next-Generation Sequencing 1p/19q Co-Deletion Analysis of Gliomas [J].

Dubbink, Hendrikus J. ;

Atmodimedjo, Peggy N. ;

van Marion, Ronald ;

Krol, Niels M. G. ;

Riegman, Peter H. J. ;

Kros, Johan M. ;

van den Bent, Martin J. ;

Dinjens, Winand N. M. .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (05) :775-786

[6] Reliable detection of subclonal single-nucleotide variants in tumour cell populations [J].

Gerstung, Moritz ;

Beisel, Christian ;

Rechsteiner, Markus ;

Wild, Peter ;

Schraml, Peter ;

Moch, Holger ;

Beerenwinkel, Niko .

NATURE COMMUNICATIONS, 2012, 3

[7] Molecular determination of the clonal relationships between multiple tumors in BRCA1/2-associated breast and/or ovarian cancer patients is clinically relevant [J].

Geurts-Giele, Willemina R. R. ;

van Verschuer, Victorien M. T. ;

van Deurzen, Carolien H. M. ;

van Diest, Paul J. ;

Pedrosa, Rute M. S. M. ;

Collee, J. Margriet ;

Koppert, Linetta B. ;

Seynaeve, Caroline ;

Dinjens, Winand N. M. .

MODERN PATHOLOGY, 2017, 30 (01) :15-25

[8] Origin of multifocal carcinomas of the bladder and upper urinary tract: Molecular analysis and clinical implications [J].

Habuchi, T .

INTERNATIONAL JOURNAL OF UROLOGY, 2005, 12 (08) :709-716

[9] BLADDER-CANCER - FIELD VERSUS CLONAL ORIGIN [J].

HARRIS, AL ;

NEAL, DE .

NEW ENGLAND JOURNAL OF MEDICINE, 1992, 326 (11) :759-761

[10] Testing clonal relatedness of two tumors from the same patient based on their mutational profiles: update of the Clonality R package [J].

Mauguen, Audrey ;

Seshan, Venkatraman E. ;

Begg, Colin B. ;

Ostrovnaya, Irina .

BIOINFORMATICS, 2019, 35 (22) :4776-4778

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