Literature DB >> 25302557

Targeted sequencing using a 47 gene multiple myeloma mutation panel (M(3) P) in -17p high risk disease.

Klaus M Kortüm1, Christian Langer, Jorge Monge, Laura Bruins, Jan B Egan, Yuan X Zhu, Chang Xin Shi, Patrick Jedlowski, Jessica Schmidt, Juhi Ojha, Lars Bullinger, Peter Liebisch, Miriam Kull, Mia D Champion, Scott Van Wier, Gregory Ahmann, Leo Rasche, Stefan Knop, Rafael Fonseca, Hermann Einsele, A Keith Stewart, Esteban Braggio.   

Abstract

We constructed a multiple myeloma (MM)-specific gene panel for targeted sequencing and investigated 72 untreated high-risk (del17p) MM patients. Mutations were identified in 78% of the patients. While the majority of studied genes were mutated at similar frequency to published literature, the prevalence of TP53 mutation was increased (28%) and no mutations were found in FAM46C. This study provides a comprehensive insight into the mutational landscape of del17p high-risk MM. Additionally, our work demonstrates the practical use of a customized sequencing panel, as an easy, cheap and fast approach to characterize the mutational profile of MM.
© 2014 John Wiley & Sons Ltd.

Entities:  

Keywords:  DNA mutation; DRUG resistance; cancer genetics; genetic analysis; myeloma

Mesh：

Substances：

Year:  2014        PMID： 25302557      PMCID： PMC4314325          DOI： 10.1111/bjh.13171

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


  14 in total

1.  Clinical significance of TP53 mutation in myeloma.

Authors:  W J Chng; T Price-Troska; N Gonzalez-Paz; S Van Wier; S Jacobus; E Blood; K Henderson; M Oken; B Van Ness; P Greipp; S V Rajkumar; R Fonseca
Journal:  Leukemia       Date:  2007-01-11       Impact factor: 11.528

2.  Clinical and biological significance of RAS mutations in multiple myeloma.

Authors:  W J Chng; N Gonzalez-Paz; T Price-Troska; S Jacobus; S V Rajkumar; M M Oken; R A Kyle; K J Henderson; S Van Wier; P Greipp; B Van Ness; R Fonseca
Journal:  Leukemia       Date:  2008-06-05       Impact factor: 11.528

Review 3.  Genomics in multiple myeloma.

Authors:  Nikhil C Munshi; Hervé Avet-Loiseau
Journal:  Clin Cancer Res       Date:  2011-03-15       Impact factor: 12.531

4.  Mutations in TP53 are exclusively associated with del(17p) in multiple myeloma.

Authors:  Laurence Lodé; Marion Eveillard; Valérie Trichet; Thierry Soussi; Soraya Wuillème; Steven Richebourg; Florence Magrangeas; Norbert Ifrah; Loïc Campion; Catherine Traullé; François Guilhot; Denis Caillot; Gérald Marit; Claire Mathiot; Thierry Facon; Michel Attal; Jean-Luc Harousseau; Philippe Moreau; Stéphane Minvielle; Hervé Avet-Loiseau
Journal:  Haematologica       Date:  2010-07-15       Impact factor: 9.941

5.  Genetic lesions associated with chronic lymphocytic leukemia chemo-refractoriness.

Authors:  Monica Messina; Ilaria Del Giudice; Hossein Khiabanian; Davide Rossi; Sabina Chiaretti; Silvia Rasi; Valeria Spina; Antony B Holmes; Marilisa Marinelli; Giulia Fabbri; Alfonso Piciocchi; Francesca R Mauro; Anna Guarini; Gianluca Gaidano; Riccardo Dalla-Favera; Laura Pasqualucci; Raul Rabadan; Robin Foà
Journal:  Blood       Date:  2014-02-18       Impact factor: 22.113

6.  Initial genome sequencing and analysis of multiple myeloma.

Authors:  Michael A Chapman; Michael S Lawrence; Jonathan J Keats; Kristian Cibulskis; Carrie Sougnez; Anna C Schinzel; Christina L Harview; Jean-Philippe Brunet; Gregory J Ahmann; Mazhar Adli; Kenneth C Anderson; Kristin G Ardlie; Daniel Auclair; Angela Baker; P Leif Bergsagel; Bradley E Bernstein; Yotam Drier; Rafael Fonseca; Stacey B Gabriel; Craig C Hofmeister; Sundar Jagannath; Andrzej J Jakubowiak; Amrita Krishnan; Joan Levy; Ted Liefeld; Sagar Lonial; Scott Mahan; Bunmi Mfuko; Stefano Monti; Louise M Perkins; Robb Onofrio; Trevor J Pugh; S Vincent Rajkumar; Alex H Ramos; David S Siegel; Andrey Sivachenko; A Keith Stewart; Suzanne Trudel; Ravi Vij; Douglas Voet; Wendy Winckler; Todd Zimmerman; John Carpten; Jeff Trent; William C Hahn; Levi A Garraway; Matthew Meyerson; Eric S Lander; Gad Getz; Todd R Golub
Journal:  Nature       Date:  2011-03-24       Impact factor: 49.962

7.  Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy.

Authors:  Jens G Lohr; Petar Stojanov; Scott L Carter; Peter Cruz-Gordillo; Michael S Lawrence; Daniel Auclair; Carrie Sougnez; Birgit Knoechel; Joshua Gould; Gordon Saksena; Kristian Cibulskis; Aaron McKenna; Michael A Chapman; Ravid Straussman; Joan Levy; Louise M Perkins; Jonathan J Keats; Steven E Schumacher; Mara Rosenberg; Gad Getz; Todd R Golub
Journal:  Cancer Cell       Date:  2014-01-13       Impact factor: 31.743

8.  Mutational heterogeneity in cancer and the search for new cancer-associated genes.

Authors:  Michael S Lawrence; Petar Stojanov; Paz Polak; Gregory V Kryukov; Kristian Cibulskis; Andrey Sivachenko; Scott L Carter; Chip Stewart; Craig H Mermel; Steven A Roberts; Adam Kiezun; Peter S Hammerman; Aaron McKenna; Yotam Drier; Lihua Zou; Alex H Ramos; Trevor J Pugh; Nicolas Stransky; Elena Helman; Jaegil Kim; Carrie Sougnez; Lauren Ambrogio; Elizabeth Nickerson; Erica Shefler; Maria L Cortés; Daniel Auclair; Gordon Saksena; Douglas Voet; Michael Noble; Daniel DiCara; Pei Lin; Lee Lichtenstein; David I Heiman; Timothy Fennell; Marcin Imielinski; Bryan Hernandez; Eran Hodis; Sylvan Baca; Austin M Dulak; Jens Lohr; Dan-Avi Landau; Catherine J Wu; Jorge Melendez-Zajgla; Alfredo Hidalgo-Miranda; Amnon Koren; Steven A McCarroll; Jaume Mora; Brian Crompton; Robert Onofrio; Melissa Parkin; Wendy Winckler; Kristin Ardlie; Stacey B Gabriel; Charles W M Roberts; Jaclyn A Biegel; Kimberly Stegmaier; Adam J Bass; Levi A Garraway; Matthew Meyerson; Todd R Golub; Dmitry A Gordenin; Shamil Sunyaev; Eric S Lander; Gad Getz
Journal:  Nature       Date:  2013-06-16       Impact factor: 49.962

9.  Heterogeneity of genomic evolution and mutational profiles in multiple myeloma.

Authors:  Niccolo Bolli; Hervé Avet-Loiseau; David C Wedge; Peter Van Loo; Ludmil B Alexandrov; Inigo Martincorena; Kevin J Dawson; Francesco Iorio; Serena Nik-Zainal; Graham R Bignell; Jonathan W Hinton; Yilong Li; Jose M C Tubio; Stuart McLaren; Sarah O' Meara; Adam P Butler; Jon W Teague; Laura Mudie; Elizabeth Anderson; Naim Rashid; Yu-Tzu Tai; Masood A Shammas; Adam S Sperling; Mariateresa Fulciniti; Paul G Richardson; Giovanni Parmigiani; Florence Magrangeas; Stephane Minvielle; Philippe Moreau; Michel Attal; Thierry Facon; P Andrew Futreal; Kenneth C Anderson; Peter J Campbell; Nikhil C Munshi
Journal:  Nat Commun       Date:  2014       Impact factor: 14.919

10.  Intraclonal heterogeneity and distinct molecular mechanisms characterize the development of t(4;14) and t(11;14) myeloma.

Authors:  Brian A Walker; Christopher P Wardell; Lorenzo Melchor; Sanna Hulkki; Nicola E Potter; David C Johnson; Kerry Fenwick; Iwanka Kozarewa; David Gonzalez; Christopher J Lord; Alan Ashworth; Faith E Davies; Gareth J Morgan
Journal:  Blood       Date:  2012-05-09       Impact factor: 22.113
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  30 in total

1.  Loss of FAM46C Promotes Cell Survival in Myeloma.

Authors:  Yuan Xiao Zhu; Chang-Xin Shi; Laura A Bruins; Patrick Jedlowski; Xuewei Wang; K Martin Kortüm; Moulun Luo; Jonathan M Ahmann; Esteban Braggio; A Keith Stewart
Journal:  Cancer Res       Date:  2017-06-15       Impact factor: 12.701

2.  Mutational screening of newly diagnosed multiple myeloma patients by deep targeted sequencing.

Authors:  Yanira Ruiz-Heredia; Beatriz Sánchez-Vega; Esther Onecha; Santiago Barrio; Rafael Alonso; Jose Carlos Martínez-Ávila; Isabel Cuenca; Xabier Agirre; Esteban Braggio; Miguel-T Hernández; Rafael Martínez; Laura Rosiñol; Norma Gutierrez; Marisa Martin-Ramos; Enrique M Ocio; María-Asunción Echeveste; Jaime Pérez de Oteyza; Albert Oriol; Joan Bargay; Mercedes Gironella; Rosa Ayala; Joan Bladé; María-Victoria Mateos; Klaus M Kortum; Keith Stewart; Ramón García-Sanz; Jesús San Miguel; Juan José Lahuerta; Joaquín Martinez-Lopez
Journal:  Haematologica       Date:  2018-06-28       Impact factor: 9.941

3.  Longitudinal analysis of 25 sequential sample-pairs using a custom multiple myeloma mutation sequencing panel (M(3)P).

Authors:  K M Kortüm; C Langer; J Monge; L Bruins; Y X Zhu; C X Shi; P Jedlowski; J B Egan; J Ojha; L Bullinger; M Kull; G Ahmann; L Rasche; S Knop; R Fonseca; H Einsele; A K Stewart; Esteban Braggio
Journal:  Ann Hematol       Date:  2015-03-07       Impact factor: 3.673

4.  Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Authors:  N Bolli; G Biancon; M Moarii; S Gimondi; Y Li; C de Philippis; F Maura; V Sathiaseelan; Y-T Tai; L Mudie; S O'Meara; K Raine; J W Teague; A P Butler; C Carniti; M Gerstung; T Bagratuni; E Kastritis; M Dimopoulos; P Corradini; K Anderson; P Moreau; S Minvielle; P J Campbell; E Papaemmanuil; H Avet-Loiseau; N C Munshi
Journal:  Leukemia       Date:  2017-12-06       Impact factor: 11.528

Review 5.  Therapy for Relapsed Multiple Myeloma: Guidelines From the Mayo Stratification for Myeloma and Risk-Adapted Therapy.

Authors:  David Dingli; Sikander Ailawadhi; P Leif Bergsagel; Francis K Buadi; Angela Dispenzieri; Rafael Fonseca; Morie A Gertz; Wilson I Gonsalves; Susan R Hayman; Prashant Kapoor; Taxiarchis Kourelis; Shaji K Kumar; Robert A Kyle; Martha Q Lacy; Nelson Leung; Yi Lin; John A Lust; Joseph R Mikhael; Craig B Reeder; Vivek Roy; Stephen J Russell; Taimur Sher; A Keith Stewart; Rahma Warsame; Stephen R Zeldenrust; S Vincent Rajkumar; Asher A Chanan Khan
Journal:  Mayo Clin Proc       Date:  2017-03-11       Impact factor: 7.616

Review 6.  Expert Panel Consensus Statement for Proper Evaluation of First Relapse in Multiple Myeloma.

Authors:  M Offidani; M Boccadoro; F Di Raimondo; M T Petrucci; P Tosi; M Cavo
Journal:  Curr Hematol Malig Rep       Date:  2019-06       Impact factor: 3.952

7.  Clonal selection and double-hit events involving tumor suppressor genes underlie relapse in myeloma.

Authors:  Niels Weinhold; Cody Ashby; Leo Rasche; Shweta S Chavan; Caleb Stein; Owen W Stephens; Ruslana Tytarenko; Michael A Bauer; Tobias Meissner; Shayu Deshpande; Purvi H Patel; Timea Buzder; Gabor Molnar; Erich A Peterson; Frits van Rhee; Maurizio Zangari; Sharmilan Thanendrarajan; Carolina Schinke; Erming Tian; Joshua Epstein; Bart Barlogie; Faith E Davies; Christoph J Heuck; Brian A Walker; Gareth J Morgan
Journal:  Blood       Date:  2016-08-11       Impact factor: 22.113

8.  IKZF1/3 and CRL4CRBN E3 ubiquitin ligase mutations and resistance to immunomodulatory drugs in multiple myeloma.

Authors:  Santiago Barrio; Umair Munawar; Yuan Xiao Zhu; Nicola Giesen; Chang-Xin Shi; Matteo Da Viá; Ricardo Sanchez; Laura Bruins; Theresa Demler; Nicole Müller; Larissa Haertle; Andoni Garitano; Torsten Steinbrunn; Sophia Danhof; Isabel Cuenca; Clara Barrio-Garcia; Esteban Braggio; Andreas Rosenwald; Joaquin Martinez-Lopez; Leo Rasche; Marc S Raab; A Keith Stewart; Hermann Einsele; Thorsten Stühmer; K Martin Kortüm
Journal:  Haematologica       Date:  2019-09-26       Impact factor: 9.941

9.  Novel Non-coding RNA Analysis in Multiple Myeloma Identified Through High-Throughput Sequencing.

Authors:  Minqiu Lu; Yin Wu; Wen Gao; Ying Tian; Guorong Wang; Aijun Liu; Wenming Chen
Journal:  Front Genet       Date:  2021-05-24       Impact factor: 4.599

Review 10.  The future of myeloma precision medicine: integrating the compendium of known drug resistance mechanisms with emerging tumor profiling technologies.

Authors:  Taylor Harding; Linda Baughn; Shaji Kumar; Brian Van Ness
Journal:  Leukemia       Date:  2019-01-25       Impact factor: 11.528
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