Literature DB >> 34011559

Whole-Genome Sequencing of Common Salivary Gland Carcinomas: Subtype-Restricted and Shared Genetic Alterations.

Tatiana V Karpinets1, Yoshitsugu Mitani2, Bin Liu3, Jianhua Zhang1, Kristen B Pytynia4, Linton D Sellen2, Danice T Karagiannis5, Renata Ferrarotto5, Andrew P Futreal1, Adel K El-Naggar6.   

Abstract

PURPOSE: Salivary gland carcinomas (SGCs) are pathologically classified into several widely diverse subtypes, of which adenoid cystic carcinoma (ACC), mucoepidermoid carcinoma (MEC), and salivary duct carcinoma (SDC) are the most commonly encountered. A comparative genetic analysis of these subtypes provides detailed information on the genetic alterations that are associated with their tumorigenesis and may lead to the identification of biomarkers to guide tumor-specific clinical trials. EXPERIMENTAL
DESIGN: Whole-genome sequencing of 58 common SGCs (20 ACCs, 20 SDCs, and 18 MECs) was performed to catalog structural variations, copy number, rearrangements, and driver mutations. Data were bioinformatically analyzed and correlated with clinicopathologic parameters, and selected targets were validated.
RESULTS: Novel and recurrent type-specific and shared genetic alterations were identified within and among 3 subtypes. Mutually exclusive canonical fusion and nonfusion genomic alterations were identified in both ACC and MEC. In ACCs, loss of chromosome 12q was dominant in MYB or MYBL1 fusion-positive tumors and mutations of NOTCH pathway were more common in these fusion negatives. In MECs, CRTC1-MAML2 fusion-positive tumors showed frequent BAP1 mutation, and tumors lacking this fusion were enriched with LRFN1 mutation. SDCs displayed considerable genetic instability, lacked recurrent chromosomal rearrangements, and demonstrated nonoverlapping TP53 mutation and ERBB2 amplification in a subset of tumors. Limited genetic alterations, including focal amplifications of 8q21-q23, were shared by all subtypes and were associated with poor survival.
CONCLUSIONS: This study delineates type-specific and shared genetic alterations that are associated with early phenotypic commitment and the biologic progression of common SGCs. These alterations, upon validation, could serve as biomarkers in tumor-specific clinical trials. ©2021 American Association for Cancer Research.

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Year:  2021        PMID： 34011559      PMCID： PMC8598082          DOI： 10.1158/1078-0432.CCR-20-4071

Source DB:  PubMed          Journal:  Clin Cancer Res        ISSN： 1078-0432            Impact factor:   12.531


  61 in total

Review 1.  Systemic therapy in the palliative management of advanced salivary gland cancers.

Authors:  Scott A Laurie; Lisa Licitra
Journal:  J Clin Oncol       Date:  2006-06-10       Impact factor: 44.544

2.  Comprehensive analysis of the MYB-NFIB gene fusion in salivary adenoid cystic carcinoma: Incidence, variability, and clinicopathologic significance.

Authors:  Yoshitsugu Mitani; Jie Li; Pulivarthi H Rao; Yi-Jue Zhao; Diana Bell; Scott M Lippman; Randal S Weber; Carlos Caulin; Adel K El-Naggar
Journal:  Clin Cancer Res       Date:  2010-08-11       Impact factor: 12.531

3.  Whole-Exome Sequencing of Salivary Gland Mucoepidermoid Carcinoma.

Authors:  Hyunseok Kang; Marietta Tan; Justin A Bishop; Siân Jones; Mark Sausen; Patrick K Ha; Nishant Agrawal
Journal:  Clin Cancer Res       Date:  2016-06-23       Impact factor: 12.531

4.  Whole exome sequencing of adenoid cystic carcinoma.

Authors:  Philip J Stephens; Helen R Davies; Yoshitsugu Mitani; Peter Van Loo; Adam Shlien; Patrick S Tarpey; Elli Papaemmanuil; Angela Cheverton; Graham R Bignell; Adam P Butler; John Gamble; Stephen Gamble; Claire Hardy; Jonathan Hinton; Mingming Jia; Alagu Jayakumar; David Jones; Calli Latimer; Stuart McLaren; David J McBride; Andrew Menzies; Laura Mudie; Mark Maddison; Keiran Raine; Serena Nik-Zainal; Sarah O'Meara; Jon W Teague; Ignacio Varela; David C Wedge; Ian Whitmore; Scott M Lippman; Ultan McDermott; Michael R Stratton; Peter J Campbell; Adel K El-Naggar; P Andrew Futreal
Journal:  J Clin Invest       Date:  2013-06-17       Impact factor: 14.808

5.  Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays.

Authors:  Radoje Drmanac; Andrew B Sparks; Matthew J Callow; Aaron L Halpern; Norman L Burns; Bahram G Kermani; Paolo Carnevali; Igor Nazarenko; Geoffrey B Nilsen; George Yeung; Fredrik Dahl; Andres Fernandez; Bryan Staker; Krishna P Pant; Jonathan Baccash; Adam P Borcherding; Anushka Brownley; Ryan Cedeno; Linsu Chen; Dan Chernikoff; Alex Cheung; Razvan Chirita; Benjamin Curson; Jessica C Ebert; Coleen R Hacker; Robert Hartlage; Brian Hauser; Steve Huang; Yuan Jiang; Vitali Karpinchyk; Mark Koenig; Calvin Kong; Tom Landers; Catherine Le; Jia Liu; Celeste E McBride; Matt Morenzoni; Robert E Morey; Karl Mutch; Helena Perazich; Kimberly Perry; Brock A Peters; Joe Peterson; Charit L Pethiyagoda; Kaliprasad Pothuraju; Claudia Richter; Abraham M Rosenbaum; Shaunak Roy; Jay Shafto; Uladzislau Sharanhovich; Karen W Shannon; Conrad G Sheppy; Michel Sun; Joseph V Thakuria; Anne Tran; Dylan Vu; Alexander Wait Zaranek; Xiaodi Wu; Snezana Drmanac; Arnold R Oliphant; William C Banyai; Bruce Martin; Dennis G Ballinger; George M Church; Clifford A Reid
Journal:  Science       Date:  2009-11-05       Impact factor: 47.728

6.  CRTC1/MAML2 fusion transcript in Warthin's tumor and mucoepidermoid carcinoma: evidence for a common genetic association.

Authors:  Diana Bell; Mario A Luna; Randal S Weber; Frederic J Kaye; Adel K El-Naggar
Journal:  Genes Chromosomes Cancer       Date:  2008-04       Impact factor: 5.006

7.  RNA sequencing analyses reveal novel differentially expressed genes and pathways in pancreatic cancer.

Authors:  Yixiang Mao; Jianjun Shen; Yue Lu; Kevin Lin; Huamin Wang; Yanan Li; Ping Chang; Mary G Walker; Donghui Li
Journal:  Oncotarget       Date:  2017-06-27

8.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

9.  Signatures of mutational processes in human cancer.

Authors:  Ludmil B Alexandrov; Serena Nik-Zainal; David C Wedge; Samuel A J R Aparicio; Sam Behjati; Andrew V Biankin; Graham R Bignell; Niccolò Bolli; Ake Borg; Anne-Lise Børresen-Dale; Sandrine Boyault; Birgit Burkhardt; Adam P Butler; Carlos Caldas; Helen R Davies; Christine Desmedt; Roland Eils; Jórunn Erla Eyfjörd; John A Foekens; Mel Greaves; Fumie Hosoda; Barbara Hutter; Tomislav Ilicic; Sandrine Imbeaud; Marcin Imielinski; Marcin Imielinsk; Natalie Jäger; David T W Jones; David Jones; Stian Knappskog; Marcel Kool; Sunil R Lakhani; Carlos López-Otín; Sancha Martin; Nikhil C Munshi; Hiromi Nakamura; Paul A Northcott; Marina Pajic; Elli Papaemmanuil; Angelo Paradiso; John V Pearson; Xose S Puente; Keiran Raine; Manasa Ramakrishna; Andrea L Richardson; Julia Richter; Philip Rosenstiel; Matthias Schlesner; Ton N Schumacher; Paul N Span; Jon W Teague; Yasushi Totoki; Andrew N J Tutt; Rafael Valdés-Mas; Marit M van Buuren; Laura van 't Veer; Anne Vincent-Salomon; Nicola Waddell; Lucy R Yates; Jessica Zucman-Rossi; P Andrew Futreal; Ultan McDermott; Peter Lichter; Matthew Meyerson; Sean M Grimmond; Reiner Siebert; Elías Campo; Tatsuhiro Shibata; Stefan M Pfister; Peter J Campbell; Michael R Stratton
Journal:  Nature       Date:  2013-08-14       Impact factor: 49.962

10.  The mutational landscape of adenoid cystic carcinoma.

Authors:  Allen S Ho; Kasthuri Kannan; David M Roy; Luc G T Morris; Ian Ganly; Nora Katabi; Deepa Ramaswami; Logan A Walsh; Stephanie Eng; Jason T Huse; Jianan Zhang; Igor Dolgalev; Kety Huberman; Adriana Heguy; Agnes Viale; Marija Drobnjak; Margaret A Leversha; Christine E Rice; Bhuvanesh Singh; N Gopalakrishna Iyer; C Rene Leemans; Elisabeth Bloemena; Robert L Ferris; Raja R Seethala; Benjamin E Gross; Yupu Liang; Rileen Sinha; Luke Peng; Benjamin J Raphael; Sevin Turcan; Yongxing Gong; Nikolaus Schultz; Seungwon Kim; Simion Chiosea; Jatin P Shah; Chris Sander; William Lee; Timothy A Chan
Journal:  Nat Genet       Date:  2013-05-19       Impact factor: 38.330
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  3 in total

1.  Targeted molecular profiling of salivary duct carcinoma with rhabdoid features highlights parallels to other apocrine and discohesive neoplasms: which phenotype should drive classification?

Authors:  Lisa M Rooper; Jeffrey Gagan; Justin A Bishop
Journal:  Head Neck Pathol       Date:  2022-07-06

2.  Heterogeneity of Genetic Landscapes in Salivary Gland Tumors and Their Critical Roles in Current Management.

Authors:  Anam Yousaf; Sarina Sulong; Baharudin Abdullah; Norhafiza Mat Lazim
Journal:  Medeni Med J       Date:  2022-06-23

Review 3.  Notch signaling pathway: architecture, disease, and therapeutics.

Authors:  Binghan Zhou; Wanling Lin; Yaling Long; Yunkai Yang; Huan Zhang; Kongming Wu; Qian Chu
Journal:  Signal Transduct Target Ther       Date:  2022-03-24
  3 in total

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