Literature DB >> 33479225

Sarcoma classification by DNA methylation profiling.

Christian Koelsche1,2,3, Daniel Schrimpf1,2, Damian Stichel2, Martin Sill4,5, Felix Sahm1,2, David E Reuss1,2, Mirjam Blattner4,6, Barbara Worst4,6,7, Christoph E Heilig8, Katja Beck8,9, Peter Horak8, Simon Kreutzfeldt8, Elke Paff4,6,7, Sebastian Stark4,6,7, Pascal Johann4,6,7, Florian Selt4,7,10, Jonas Ecker4,7,10, Dominik Sturm4,6,7, Kristian W Pajtler4,5,7, Annekathrin Reinhardt1,2, Annika K Wefers1,2, Philipp Sievers1,2, Azadeh Ebrahimi2, Abigail Suwala1,2, Francisco Fernández-Klett1,2, Belén Casalini2, Andrey Korshunov1,2, Volker Hovestadt11,12, Felix K F Kommoss3, Mark Kriegsmann3, Matthias Schick13, Melanie Bewerunge-Hudler13, Till Milde4,7,10, Olaf Witt4,7,10, Andreas E Kulozik4,7, Marcel Kool4,5, Laura Romero-Pérez14, Thomas G P Grünewald14, Thomas Kirchner15, Wolfgang Wick16,17, Michael Platten18,19, Andreas Unterberg20, Matthias Uhl21,22, Amir Abdollahi21,22,23,24, Jürgen Debus21,22,23,24, Burkhard Lehner25, Christian Thomas26, Martin Hasselblatt26, Werner Paulus26, Christian Hartmann27, Ori Staszewski28,29, Marco Prinz28,30,31, Jürgen Hench32, Stephan Frank32, Yvonne M H Versleijen-Jonkers33, Marije E Weidema33, Thomas Mentzel34, Klaus Griewank35, Enrique de Álava36,37, Juan Díaz Martín36, Miguel A Idoate Gastearena38, Kenneth Tou-En Chang39, Sharon Yin Yee Low40, Adrian Cuevas-Bourdier41, Michel Mittelbronn41,42,43,44, Martin Mynarek45, Stefan Rutkowski45, Ulrich Schüller45,46,47, Viktor F Mautner48, Jens Schittenhelm49, Jonathan Serrano50, Matija Snuderl50, Reinhard Büttner51, Thomas Klingebiel52, Rolf Buslei53, Manfred Gessler54, Pieter Wesseling55,56, Winand N M Dinjens57, Sebastian Brandner58,59, Zane Jaunmuktane59,60, Iben Lyskjær61, Peter Schirmacher3, Albrecht Stenzinger3, Benedikt Brors62, Hanno Glimm63,64,65,66, Christoph Heining64,65,66, Oscar M Tirado67, Miguel Sáinz-Jaspeado67, Jaume Mora68, Javier Alonso69, Xavier Garcia Del Muro70, Sebastian Moran71, Manel Esteller72,73,74,75, Jamal K Benhamida76, Marc Ladanyi76, Eva Wardelmann77, Cristina Antonescu76, Adrienne Flanagan78,79, Uta Dirksen80,81, Peter Hohenberger82, Daniel Baumhoer83, Wolfgang Hartmann84, Christian Vokuhl85, Uta Flucke86, Iver Petersen87,88, Gunhild Mechtersheimer3, David Capper89, David T W Jones4,6, Stefan Fröhling8, Stefan M Pfister4,5,7, Andreas von Deimling90,91.   

Abstract

Sarcomas are malignant soft tissue and bone tumours affecting adults, adolescents and children. They represent a morphologically heterogeneous class of tumours and some entities lack defining histopathological features. Therefore, the diagnosis of sarcomas is burdened with a high inter-observer variability and misclassification rate. Here, we demonstrate classification of soft tissue and bone tumours using a machine learning classifier algorithm based on array-generated DNA methylation data. This sarcoma classifier is trained using a dataset of 1077 methylation profiles from comprehensively pre-characterized cases comprising 62 tumour methylation classes constituting a broad range of soft tissue and bone sarcoma subtypes across the entire age spectrum. The performance is validated in a cohort of 428 sarcomatous tumours, of which 322 cases were classified by the sarcoma classifier. Our results demonstrate the potential of the DNA methylation-based sarcoma classification for research and future diagnostic applications.

Entities:  

Mesh:

Year:  2021        PMID: 33479225      PMCID: PMC7819999          DOI: 10.1038/s41467-020-20603-4

Source DB:  PubMed          Journal:  Nat Commun        ISSN: 2041-1723            Impact factor:   17.694


  38 in total

1.  DNA Methylation Profiling Identifies Distinct Clusters in Angiosarcomas.

Authors:  Andreas von Deimling; Uta E Flucke; Marije E Weidema; Ellen van de Geer; Christian Koelsche; Ingrid M E Desar; Patrick Kemmeren; Melissa H S Hillebrandt-Roeffen; Vincent K Y Ho; Winette T A van der Graaf; Yvonne M H Versleijen-Jonkers
Journal:  Clin Cancer Res       Date:  2019-09-27       Impact factor: 12.531

2.  Next-generation personalised medicine for high-risk paediatric cancer patients - The INFORM pilot study.

Authors:  Barbara C Worst; Cornelis M van Tilburg; Gnana Prakash Balasubramanian; Petra Fiesel; Ruth Witt; Angelika Freitag; Miream Boudalil; Christopher Previti; Stephan Wolf; Sabine Schmidt; Sasithorn Chotewutmontri; Melanie Bewerunge-Hudler; Matthias Schick; Matthias Schlesner; Barbara Hutter; Lenka Taylor; Tobias Borst; Christian Sutter; Claus R Bartram; Till Milde; Elke Pfaff; Andreas E Kulozik; Arend von Stackelberg; Roland Meisel; Arndt Borkhardt; Dirk Reinhardt; Jan-Henning Klusmann; Gudrun Fleischhack; Stephan Tippelt; Uta Dirksen; Heribert Jürgens; Christof M Kramm; Andre O von Bueren; Frank Westermann; Matthias Fischer; Birgit Burkhardt; Wilhelm Wößmann; Michaela Nathrath; Stefan S Bielack; Michael C Frühwald; Simone Fulda; Thomas Klingebiel; Ewa Koscielniak; Matthias Schwab; Roman Tremmel; Pablo Hernáiz Driever; Johannes H Schulte; Benedikt Brors; Andreas von Deimling; Peter Lichter; Angelika Eggert; David Capper; Stefan M Pfister; David T W Jones; Olaf Witt
Journal:  Eur J Cancer       Date:  2016-07-29       Impact factor: 9.162

3.  Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups.

Authors:  Kristian W Pajtler; Hendrik Witt; Martin Sill; David T W Jones; Volker Hovestadt; Fabian Kratochwil; Khalida Wani; Ruth Tatevossian; Chandanamali Punchihewa; Pascal Johann; Jüri Reimand; Hans-Jörg Warnatz; Marina Ryzhova; Steve Mack; Vijay Ramaswamy; David Capper; Leonille Schweizer; Laura Sieber; Andrea Wittmann; Zhiqin Huang; Peter van Sluis; Richard Volckmann; Jan Koster; Rogier Versteeg; Daniel Fults; Helen Toledano; Smadar Avigad; Lindsey M Hoffman; Andrew M Donson; Nicholas Foreman; Ekkehard Hewer; Karel Zitterbart; Mark Gilbert; Terri S Armstrong; Nalin Gupta; Jeffrey C Allen; Matthias A Karajannis; David Zagzag; Martin Hasselblatt; Andreas E Kulozik; Olaf Witt; V Peter Collins; Katja von Hoff; Stefan Rutkowski; Torsten Pietsch; Gary Bader; Marie-Laure Yaspo; Andreas von Deimling; Peter Lichter; Michael D Taylor; Richard Gilbertson; David W Ellison; Kenneth Aldape; Andrey Korshunov; Marcel Kool; Stefan M Pfister
Journal:  Cancer Cell       Date:  2015-05-11       Impact factor: 31.743

4.  Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A/B and ATRX alterations.

Authors:  Annekathrin Reinhardt; Damian Stichel; Daniel Schrimpf; Felix Sahm; Andrey Korshunov; David E Reuss; Christian Koelsche; Kristin Huang; Annika K Wefers; Volker Hovestadt; Martin Sill; Dorothee Gramatzki; Joerg Felsberg; Guido Reifenberger; Arend Koch; Ulrich-W Thomale; Albert Becker; Volkmar H Hans; Marco Prinz; Ori Staszewski; Till Acker; Hildegard Dohmen; Christian Hartmann; Wolf Mueller; Muin S A Tuffaha; Werner Paulus; Katharina Heß; Benjamin Brokinkel; Jens Schittenhelm; Camelia-Maria Monoranu; Almuth Friederike Kessler; Mario Loehr; Rolf Buslei; Martina Deckert; Christian Mawrin; Patricia Kohlhof; Ekkehard Hewer; Adriana Olar; Fausto J Rodriguez; Caterina Giannini; Amulya A NageswaraRao; Uri Tabori; Nuno Miguel Nunes; Michael Weller; Ute Pohl; Zane Jaunmuktane; Sebastian Brandner; Andreas Unterberg; Daniel Hänggi; Michael Platten; Stefan M Pfister; Wolfgang Wick; Christel Herold-Mende; David T W Jones; Andreas von Deimling; David Capper
Journal:  Acta Neuropathol       Date:  2018-03-21       Impact factor: 17.088

5.  Myxoid malignant fibrous histiocytoma and pleomorphic liposarcoma share very similar genomic imbalances.

Authors:  Ahmed Idbaih; Jean-Michel Coindre; Josette Derré; Odette Mariani; Philippe Terrier; Dominique Ranchère; Aline Mairal; Alain Aurias
Journal:  Lab Invest       Date:  2005-02       Impact factor: 5.662

6.  Regularization Paths for Generalized Linear Models via Coordinate Descent.

Authors:  Jerome Friedman; Trevor Hastie; Rob Tibshirani
Journal:  J Stat Softw       Date:  2010       Impact factor: 6.440

7.  Machine learning workflows to estimate class probabilities for precision cancer diagnostics on DNA methylation microarray data.

Authors:  Máté E Maros; David Capper; David T W Jones; Volker Hovestadt; Andreas von Deimling; Stefan M Pfister; Axel Benner; Manuela Zucknick; Martin Sill
Journal:  Nat Protoc       Date:  2020-01-13       Impact factor: 13.491

8.  DNA Methylation-Based Classifier for Accurate Molecular Diagnosis of Bone Sarcomas.

Authors:  S Peter Wu; Benjamin T Cooper; Fang Bu; Christopher J Bowman; J Keith Killian; Jonathan Serrano; Shiyang Wang; Twana M Jackson; Daniel Gorovets; Neerav Shukla; Paul A Meyers; David J Pisapia; Richard Gorlick; Marc Ladanyi; Kristen Thomas; Matija Snuderl; Matthias A Karajannis
Journal:  JCO Precis Oncol       Date:  2017-10-06

9.  DNA methylome profiling of human tissues identifies global and tissue-specific methylation patterns.

Authors:  Kaie Lokk; Vijayachitra Modhukur; Balaji Rajashekar; Kaspar Märtens; Reedik Mägi; Raivo Kolde; Marina Koltšina; Torbjörn K Nilsson; Jaak Vilo; Andres Salumets; Neeme Tõnisson
Journal:  Genome Biol       Date:  2014-04-01       Impact factor: 13.583

10.  Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas.

Authors: 
Journal:  Cell       Date:  2017-11-02       Impact factor: 41.582

View more
  50 in total

1.  Artificial intelligence in clinical research of cancers.

Authors:  Dan Shao; Yinfei Dai; Nianfeng Li; Xuqing Cao; Wei Zhao; Li Cheng; Zhuqing Rong; Lan Huang; Yan Wang; Jing Zhao
Journal:  Brief Bioinform       Date:  2022-01-17       Impact factor: 11.622

2.  Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.

Authors:  Sietse M Aukema; Selina Glaser; Mari F C M van den Hout; Sonja Dahlum; Marinus J Blok; Morten Hillmer; Julia Kolarova; Raf Sciot; Dina A Schott; Reiner Siebert; Constance T R M Stumpel
Journal:  Fam Cancer       Date:  2022-07-19       Impact factor: 2.446

3.  Systematic evaluation of cell-type deconvolution pipelines for sequencing-based bulk DNA methylomes.

Authors:  Yunhee Jeong; Lisa Barros de Andrade E Sousa; Dominik Thalmeier; Reka Toth; Marlene Ganslmeier; Kersten Breuer; Christoph Plass; Pavlo Lutsik
Journal:  Brief Bioinform       Date:  2022-07-18       Impact factor: 13.994

4.  Comparative oncology reveals DNMT3B as a molecular vulnerability in undifferentiated pleomorphic sarcoma.

Authors:  Ashley M Fuller; Ann DeVine; Ileana Murazzi; Nicola J Mason; Kristy Weber; T S Karin Eisinger-Mathason
Journal:  Cell Oncol (Dordr)       Date:  2022-10-01       Impact factor: 7.051

5.  DNA methylation-based profiling of bone and soft tissue tumours: a validation study of the 'DKFZ Sarcoma Classifier'.

Authors:  Iben Lyskjaer; Solange De Noon; Roberto Tirabosco; Ana Maia Rocha; Daniel Lindsay; Fernanda Amary; Hongtao Ye; Daniel Schrimpf; Damian Stichel; Martin Sill; Christian Koelsche; Nischalan Pillay; Andreas Von Deimling; Stephan Beck; Adrienne M Flanagan
Journal:  J Pathol Clin Res       Date:  2021-05-05

6.  High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13.

Authors:  Drew Pratt; Zied Abdullaev; Antonios Papanicolau-Sengos; Courtney Ketchum; Pavalan Panneer Selvam; Hye-Jung Chung; Ina Lee; Mark Raffeld; Mark R Gilbert; Terri S Armstrong; Peter Pytel; Ewa Borys; Joshua M Klonoski; Matthew McCord; Craig Horbinski; Daniel Brat; Arie Perry; David Solomon; Charles Eberhart; Caterina Giannini; Martha Quezado; Kenneth Aldape
Journal:  Acta Neuropathol       Date:  2022-02-01       Impact factor: 17.088

7.  Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup.

Authors:  Andreas von Deimling; Christian Koelsche; Felix K F Kommoss; Damian Stichel; Jaume Mora; Manel Esteller; David T W Jones; Stefan M Pfister; Eva Brack; Marco Wachtel; Peter Karl Bode; Hans-Peter Sinn; Dietmar Schmidt; Thomas Mentzel; Friedrich Kommoss; Felix Sahm
Journal:  Mod Pathol       Date:  2021-04-12       Impact factor: 7.842

8.  Identification of novel SSX1 fusions in synovial sarcoma.

Authors:  Akihiko Yoshida; Yasuhito Arai; Kaishi Satomi; Takashi Kubo; Eijitsu Ryo; Yuko Matsushita; Natsuko Hama; Kazuki Sudo; Motokiyo Komiyama; Yasushi Yatabe; Tatsuhiro Shibata; Hitoshi Ichikawa; Koichi Ichimura; Akira Kawai; Taisuke Mori
Journal:  Mod Pathol       Date:  2021-09-09       Impact factor: 7.842

9.  TSC2-mutant uterine sarcomas with JAZF1-SUZ12 fusions demonstrate hybrid features of endometrial stromal sarcoma and PEComa and are responsive to mTOR inhibition.

Authors:  Sarah Chiang; Varshini Vasudevaraja; Jonathan Serrano; Colin J R Stewart; Esther Oliva; Amir Momeni-Boroujeni; Achim A Jungbluth; Arnaud Da Cruz Paula; Edaise M da Silva; Britta Weigelt; Kay J Park; Robert A Soslow; Rajmohan Murali; Lora H Ellenson; Ryma Benayed; Marc Ladanyi; Nadeem R Abu-Rustum; Mark A Dickson; Seth Cohen; Carol Aghajanian; Martee L Hensley; Cheng-Han Lee; Matija Snuderl; Jason A Konner
Journal:  Mod Pathol       Date:  2021-09-24       Impact factor: 8.209

10.  Sarcomas with sclerotic epithelioid phenotype harboring novel EWSR1-SSX1 fusions.

Authors:  Cristina R Antonescu; Andrew E Rosenberg; Ziyu Xie; Lei Zhang; Katharina Anne Perell; Anand C Loya
Journal:  Genes Chromosomes Cancer       Date:  2021-05-18       Impact factor: 4.263

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.