Peer-reviewedCC BY-NC-ND 4.0Clinical Epigenetics
Tumor-type specific methylation patterns of MTAP in human samples and cell lines
9 affiliations
- 1CANMET Research Group, Cátedra INTHEOS-START-CEU de Oncología de Precision, Departamento de Ciencias Médicas Básicas, Facultad de Medicina, Instituto de Medicina Molecular Aplicada (IMMA), Universidad San Pablo-CEU, CEU Universities ES, Urbanización Montepríncipe, 28660 Boadilla del Monte, Spain
- 2Department of Bioinformatics, Semmelweis University, Tűzoltó U. 7-9, Budapest, 1094 Hungary
- 3START Madrid-FJD, Hospital Fundación Jiménez Díaz, Madrid, Spain
- 4Experimental Therapeutics Unit, Hospital Clínico San Carlos (HCSC) Instituto de Investigación Sanitaria San Carlos (IdISSC), San Carlos Clinical Hospital, Oncology, Madrid, Spain
- 5START Madrid-CIOCC, Centro Integral Oncológico Clara Campal, Madrid, Spain
- 6Laboratory for Bone Physiopathology, Cátedra INTHEOS-START-CEU de Oncología de Precision, Departamento de Ciencias Médicas Básicas, Facultad de Medicina, Instituto de Medicina Molecular Aplicada (IMMA), Universidad San Pablo-CEU, CEU Universities ES, Urbanización Montepríncipe, 28660 Boadilla del Monte, Spain
- 7Institute of Transdisciplinary Sciences, Medical School, University of Pecs, Pecs, 7624 Hungary
- 8Research Centre for Natural Sciences, Hungarian Research Network, Magyar Tudosok Korutja 2, Budapest, 1117 Hungary
- 9Centro de Investigación Biomédica en Red en Oncología (CIBERONC), Madrid, Spain
Abstract
Loss of methylthioadenosine phosphorylase creates a therapeutically dependency on PRMT5, yet current strategies select patients based only on MTAP genomic deletion. We performed an integrated analysis of DNA methylation and gene expression using TCGA, TARGET and ENCODE data to identify alternative mechanisms of MTAP inactivation. A promoter-proximal CpG site (cg25162921) showed a frequent hypermethylation and strong inverse correlation with MTAP mRNA expression across multiple tumor types and cell lines, including lung squamous cell carcinoma and glioblastoma. These findings identify promoter hypermethylation as a copy-number–independent mechanism of MTAP silencing and support epigenetic profiling evaluation in tumor samples into MTAP-based precision oncology.
Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13148-026-02199-6.
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BibTeX
@article{alvarezcarrion2026tumortype,
title = {{Tumor-type specific methylation patterns of MTAP in human samples and cell lines}},
author = {Luis Álvarez-Carrión and Dalma Müller and Manuel Pedregal and Lucía Paniagua-Herranz and Irene Gutiérrez Rojas and Verónica Alonso and Jorge Bartolomé and Marta Amann and Esther Cabañas Morafraile and Bernard Doger and Emiliano Calvo and Juan Antonio Ardura and Balázs Győrffy and Víctor Moreno and Alberto Ocana},
journal = {Clinical Epigenetics},
year = {2026},
month = jul,
doi = {10.1186/s13148-026-02199-6},
url = {https://doi.org/10.1186/s13148-026-02199-6},
note = {CC BY-NC-ND 4.0},
}
RIS
TY - JOUR
TI - Tumor-type specific methylation patterns of MTAP in human samples and cell lines
AU - Luis Álvarez-Carrión
AU - Dalma Müller
AU - Manuel Pedregal
AU - Lucía Paniagua-Herranz
AU - Irene Gutiérrez Rojas
AU - Verónica Alonso
AU - Jorge Bartolomé
AU - Marta Amann
AU - Esther Cabañas Morafraile
AU - Bernard Doger
AU - Emiliano Calvo
AU - Juan Antonio Ardura
AU - Balázs Győrffy
AU - Víctor Moreno
AU - Alberto Ocana
PY - 2026
DA - 2026/07/08
JO - Clinical Epigenetics
DO - 10.1186/s13148-026-02199-6
UR - https://doi.org/10.1186/s13148-026-02199-6
AB - Loss of methylthioadenosine phosphorylase creates a therapeutically dependency on PRMT5, yet current strategies select patients based only on MTAP genomic deletion. We performed an integrated analysis of DNA methylation and gene expression using TCGA, TARGET and ENCODE data to identify alternative mechanisms of MTAP inactivation. A promoter-proximal CpG site (cg25162921) showed a frequent hypermethylation and strong inverse correlation with MTAP mRNA expression across multiple tumor types and cell lines, including lung squamous cell carcinoma and glioblastoma. These findings identify promoter hypermethylation as a copy-number–independent mechanism of MTAP silencing and support epigenetic profiling evaluation in tumor samples into MTAP-based precision oncology. Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13148-026-02199-6.
SN - 1868-7075
SN - 1868-7083
ER -