Presence of TERT Promoter Mutations is a Secondary Event and Associates with Elongated Telomere Length in Myxoid Liposarcomas

International Journal of Molecular Sciences
Monica S Ventura FerreiraFabian Beier

Abstract

The occurrence of TERT promoter mutations has been well described in soft tissue sarcomas (STS). However, the biological role of these mutations as well as their impact on telomere length in STS is still unclear. We analyzed 116 patient samples diagnosed with 22 distinct histological subtypes of bone and STS for the occurrence of TERT promoter mutations by Sanger sequencing. We observed TERT promoter mutations at an overall frequency of 9.5% distributed over 7 different sarcoma subtypes. Except for one chondrosarcoma case harboring a C250T mutation, all other mutations were detected at location C228T. By far the far highest frequency of TERT promoter mutations was found in myxoid liposarcoma (MLS) (4 out of 9 cases studied, i.e., 44%). Assessment of telomere length from tumor biopsies revealed that TERT promoter-mutated MLSs had significantly fewer shortened telomeres in comparison to TERT wildtype MLSs. Based on the frequency of TERT promoter mutations and the elongated telomere length in mutated compared to wildtype MLS, we hypothesize that occurrence of TERT promoter mutations has a pivotal role in the disease progression as a secondary genetic event at a time when tumor cells face the need for telomere elongation to allow f...Continue Reading

References

Oct 1, 1989·Molecular and Cellular Biology·A J FornaceN J Holbrook
Feb 19, 2002·Oncogene·Titia de Lange
Jul 24, 2003·The American Journal of Pathology·Neil H SegalCarlos Cordon-Cardo
Mar 1, 1965·Experimental Cell Research·L HAYFLICK
Apr 28, 2004·The American Journal of Pathology·Elizabeth MontgomeryAlan K Meeker
Aug 3, 2005·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Jay E JohnsonDominique Broccoli
Apr 4, 2007·Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico·E de Alava
Jul 31, 2007·Cell·Manuel ColladoManuel Serrano
Oct 3, 2007·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Smadar AvigadIsaac Yaniv
Mar 4, 2008·International Journal of Cancer. Journal International Du Cancer·Jennie N JeyapalanNicola J Royle
May 27, 2008·Nature Reviews. Cancer·Yibin DengSandy Chang
Dec 30, 2009·Virchows Archiv : an International Journal of Pathology·Ralf J RiekerGunhild Mechtersheimer
Mar 8, 2011·Cell·Douglas Hanahan, Robert A Weinberg
Sep 6, 2011·The American Journal of Pathology·Christopher M HeaphyAlan K Meeker
Sep 21, 2011·Cell Research·Rene RodriguezPablo Menendez
Jan 26, 2013·Science·Susanne HornRajiv Kumar
Jan 26, 2013·Science·Franklin W HuangLevi A Garraway
Mar 27, 2013·Proceedings of the National Academy of Sciences of the United States of America·Patrick J KillelaHai Yan
Jul 25, 2013·Clinical Sarcoma Research·Wei XiaoAnne-Marie Cleton-Jansen
Jul 28, 2013·Nature Communications·João VinagrePaula Soares
Sep 14, 2013·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Glynis A ScottPaul G Rothberg
Oct 9, 2013·Proceedings of the National Academy of Sciences of the United States of America·P Sivaramakrishna RachakondaRajiv Kumar
Nov 1, 2013·Acta Neuropathologica·Marc RemkeMichael D Taylor
Jan 18, 2014·International Journal of Cancer. Journal International Du Cancer·Yiping QuPeng Hou
Jan 31, 2014·The Journal of Clinical Endocrinology and Metabolism·Miguel MeloPaula Soares
Mar 25, 2014·Current Opinion in Genetics & Development·Barbara HeidenreichRajiv Kumar
Apr 3, 2014·The Journal of Investigative Dermatology·Helena PópuloPaula Soares
Apr 15, 2014·Journal of Experimental & Clinical Cancer Research : CR·Christian KoelscheGunhild Mechtersheimer

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Citations

Feb 23, 2019·Virchows Archiv : an International Journal of Pathology·David I SusterG Petur Nielsen
May 13, 2021·Diagnostic Cytopathology·Monica H XingHua Chen
Nov 5, 2020·Archives of Pathology & Laboratory Medicine·Calixto-Hope G LucasAndrew Horvai
Dec 28, 2021·Histopathology·Shadi Hames-FathiNischalan Pillay

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Methods Mentioned

BETA
surgical resections
PCR
confocal microscopy

Software Mentioned

Definiens Developer
GENtle
GraphPad Prism

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