Literature DB >> 30467240

Recurrent MED12 exon 2 mutations in benign breast fibroepithelial lesions in adolescents and young adults.

Fresia Pareja1, Arnaud Da Cruz Paula1, Melissa P Murray1, Timothy Hoang1, Rodrigo Gularte-Mérida1, David Brown1, Edaise M da Silva1, Ana Paula Martins Sebastiao1,2,3, Dilip D Giri1, Britta Weigelt1, Jorge S Reis-Filho1, Edi Brogi4.   

Abstract

AIMS: Most benign breast fibroepithelial lesions (FEL) in adults harbour recurrent somatic MED12 exon 2 mutations and rare TERT promoter hotspot mutations. We sought to determine the frequency of MED12 exon 2 and TERT promoter hotspot mutations in fibroadenomas (FA) and benign phyllodes tumours (BePT) in adolescents and young adults.
METHODS: DNA from 21 consecutive FAs and eight consecutive BePTs in adolescents and young adults was subjected to Sanger sequencing of the exon 2 of MED12 and the TERT promoter hotspot locus.
RESULTS: We identified MED12 exon 2 mutations in 62% and 88% of FAs and BePTs, respectively, and no TERT promoter hotspot mutations. The majority of the MED12 exon 2 mutations identified were in-frame deletions (60%).
CONCLUSIONS: As in adults, benign FELs in juvenile patients harbour recurrent MED12 exon 2 mutations. © Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Entities:  

Keywords:  MED12; fibroadenoma; phyllodes tumour; sequencing; telomerase

Mesh：

Substances：

Year:  2018        PMID： 30467240      PMCID： PMC6580856          DOI： 10.1136/jclinpath-2018-205570

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


  16 in total

1.  Distribution of MED12 mutations in fibroadenomas and phyllodes tumors of the breast--implications for tumor biology and pathological diagnosis.

Authors:  Nicole Pfarr; Mark Kriegsmann; Peter Sinn; Frederick Klauschen; Volker Endris; Esther Herpel; Alexander Muckenhuber; Moritz Jesinghaus; Bernd Klosterhalfen; Roland Penzel; Jochen K Lennerz; Wilko Weichert; Albrecht Stenzinger
Journal:  Genes Chromosomes Cancer       Date:  2015-04-30       Impact factor: 5.006

2.  Mutational analysis of MED12 in fibroadenomas and phyllodes tumors of the breast by means of targeted next-generation sequencing.

Authors:  Chieko Mishima; Naofumi Kagara; Tomonori Tanei; Yasuto Naoi; Masafumi Shimoda; Atsushi Shimomura; Kenzo Shimazu; Seung Jin Kim; Shinzaburo Noguchi
Journal:  Breast Cancer Res Treat       Date:  2015-06-21       Impact factor: 4.872

3.  Comprehensive genomic profiling of malignant phyllodes tumors of the breast.

Authors:  Sahar Nozad; Christine E Sheehan; Laurie M Gay; Julia A Elvin; Jo-Anne Vergilio; James Suh; Shakti Ramkissoon; Alexa B Schrock; Kim M Hirshfield; Nadia Ali; Shridar Ganesan; Siraj M Ali; Vincent A Miller; Philip J Stephens; Jeffrey S Ross; Jon H Chung
Journal:  Breast Cancer Res Treat       Date:  2017-02-17       Impact factor: 4.872

4.  MED12 somatic mutations in fibroadenomas and phyllodes tumours of the breast.

Authors:  Salvatore Piscuoglio; Melissa Murray; Nicola Fusco; Caterina Marchiò; Florence L Loo; Luciano G Martelotto; Anne M Schultheis; Muzaffar Akram; Britta Weigelt; Edi Brogi; Jorge S Reis-Filho
Journal:  Histopathology       Date:  2015-05-24       Impact factor: 5.087

5.  Genomic landscapes of breast fibroepithelial tumors.

Authors:  Jing Tan; Choon Kiat Ong; Weng Khong Lim; Cedric Chuan Young Ng; Aye Aye Thike; Ley Moy Ng; Vikneswari Rajasegaran; Swe Swe Myint; Sanjanaa Nagarajan; Saranya Thangaraju; Sucharita Dey; Nur Diyana Md Nasir; Giovani Claresta Wijaya; Jing Quan Lim; Dachuan Huang; Zhimei Li; Bernice Huimin Wong; Jason Yong Sheng Chan; John R McPherson; Ioana Cutcutache; Gregory Poore; Su Ting Tay; Wai Jin Tan; Thomas Choudary Putti; Buhari Shaik Ahmad; Philip Iau; Ching Wan Chan; Anthony P H Tang; Wei Sean Yong; Preetha Madhukumar; Gay Hui Ho; Veronique Kiak Mien Tan; Chow Yin Wong; Mikael Hartman; Kong Wee Ong; Benita K T Tan; Steven G Rozen; Patrick Tan; Puay Hoon Tan; Bin Tean Teh
Journal:  Nat Genet       Date:  2015-10-05       Impact factor: 38.330

6.  Next-Gen Sequencing Exposes Frequent MED12 Mutations and Actionable Therapeutic Targets in Phyllodes Tumors.

Authors:  Andi K Cani; Daniel H Hovelson; Andrew S McDaniel; Seth Sadis; Michaela J Haller; Venkata Yadati; Anmol M Amin; Jarred Bratley; Santhoshi Bandla; Paul D Williams; Kate Rhodes; Chia-Jen Liu; Michael J Quist; Daniel R Rhodes; Catherine S Grasso; Celina G Kleer; Scott A Tomlins
Journal:  Mol Cancer Res       Date:  2015-01-15       Impact factor: 5.852

7.  Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.

Authors:  Weng Khong Lim; Choon Kiat Ong; Jing Tan; Aye Aye Thike; Cedric Chuan Young Ng; Vikneswari Rajasegaran; Swe Swe Myint; Sanjanaa Nagarajan; Nur Diyana Md Nasir; John R McPherson; Ioana Cutcutache; Gregory Poore; Su Ting Tay; Wei Siong Ooi; Veronique Kiak Mien Tan; Mikael Hartman; Kong Wee Ong; Benita K T Tan; Steven G Rozen; Puay Hoon Tan; Patrick Tan; Bin Tean Teh
Journal:  Nat Genet       Date:  2014-07-20       Impact factor: 38.330

8.  Massively parallel sequencing of phyllodes tumours of the breast reveals actionable mutations, and TERT promoter hotspot mutations and TERT gene amplification as likely drivers of progression.

Authors:  Salvatore Piscuoglio; Charlotte Ky Ng; Melissa Murray; Kathleen A Burke; Marcia Edelweiss; Felipe C Geyer; Gabriel S Macedo; Akiko Inagaki; Anastasios D Papanastasiou; Luciano G Martelotto; Caterina Marchio; Raymond S Lim; Rafael A Ioris; Pooja K Nahar; Ino De Bruijn; Lillian Smyth; Muzaffar Akram; Dara Ross; John H Petrini; Larry Norton; David B Solit; Jose Baselga; Edi Brogi; Marc Ladanyi; Britta Weigelt; Jorge S Reis-Filho
Journal:  J Pathol       Date:  2016-01-25       Impact factor: 7.996

9.  Frequent MED12 mutations in phyllodes tumours of the breast.

Authors:  M Yoshida; S Sekine; R Ogawa; H Yoshida; A Maeshima; Y Kanai; T Kinoshita; A Ochiai
Journal:  Br J Cancer       Date:  2015-04-02       Impact factor: 7.640

10.  TERT promoter mutations are frequent and show association with MED12 mutations in phyllodes tumors of the breast.

Authors:  Masayuki Yoshida; Reiko Ogawa; Hiroshi Yoshida; Akiko Maeshima; Yae Kanai; Takayuki Kinoshita; Nobuyoshi Hiraoka; Shigeki Sekine
Journal:  Br J Cancer       Date:  2015-09-10       Impact factor: 7.640
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  4 in total

Review 1.  Fibroepithelial lesions revisited: implications for diagnosis and management.

Authors:  Puay Hoon Tan
Journal:  Mod Pathol       Date:  2020-05-27       Impact factor: 7.842

2.  SETD2 alterations and histone H3K36 trimethylation in phyllodes tumor of breast.

Authors:  Julia Y Tsang; Sui-Ting Lai; Yun-Bi Ni; Yan Shao; Ivan K Poon; Johnny S Kwan; Chit Chow; Ka-Ho Shea; Gary M Tse
Journal:  Breast Cancer Res Treat       Date:  2021-04-12       Impact factor: 4.872

3.  TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

Authors:  Edaise M da Silva; Pier Selenica; Mahsa Vahdatinia; Fresia Pareja; Arnaud Da Cruz Paula; Lorenzo Ferrando; Andrea M Gazzo; Higinio Dopeso; Dara S Ross; Ariya Bakhteri; Nadeem Riaz; Sarat Chandarlapaty; Pedram Razavi; Larry Norton; Hannah Y Wen; Edi Brogi; Britta Weigelt; Hong Zhang; Jorge S Reis-Filho
Journal:  NPJ Breast Cancer       Date:  2021-04-16

4.  Genetic differences between benign phyllodes tumors and fibroadenomas revealed through targeted next generation sequencing.

Authors:  Cedric Chuan Young Ng; Nur Diyana Md Nasir; Benjamin Nathanael Loke; Timothy Kwang Yong Tay; Aye Aye Thike; Vikneswari Rajasegaran; Wei Liu; Jing Yi Lee; Peiyong Guan; Abner Herbert Lim; Kenneth Tou En Chang; Mihir Ananta Gudi; Preetha Madhukumar; Benita Kiat Tee Tan; Veronique Kiak Mien Tan; Chow Yin Wong; Wei Sean Yong; Gay Hui Ho; Kong Wee Ong; George Wai Cheong Yip; Boon Huat Bay; Patrick Tan; Bin Tean Teh; Puay Hoon Tan
Journal:  Mod Pathol       Date:  2021-03-16       Impact factor: 7.842
  4 in total

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