Cargando…

Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations

Uterine adenosarcoma (UA) is an uncommon mixed tumor containing a benign to at most mildly atypical epithelial component and a sarcoma-like stroma, usually a low-grade, stromal component, with rare heterogeneous elements. Currently, tumor etiology is largely unknown. To better understand the gene mu...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Yao, Meng, Xue, Luo, Yuqing, Huang, Xiang, Luo, Shuai, Wang, Jinjing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555499/
https://www.ncbi.nlm.nih.gov/pubmed/37810911
http://dx.doi.org/10.1155/2023/7436368
_version_ 1785116668312158208
author Li, Yao
Meng, Xue
Luo, Yuqing
Huang, Xiang
Luo, Shuai
Wang, Jinjing
author_facet Li, Yao
Meng, Xue
Luo, Yuqing
Huang, Xiang
Luo, Shuai
Wang, Jinjing
author_sort Li, Yao
collection PubMed
description Uterine adenosarcoma (UA) is an uncommon mixed tumor containing a benign to at most mildly atypical epithelial component and a sarcoma-like stroma, usually a low-grade, stromal component, with rare heterogeneous elements. Currently, tumor etiology is largely unknown. To better understand the gene mutations in UA, next-generation sequencing (NGS) technology analysis was performed. This study showed that two low-grade UAs with heterologous components had ATRX gene frameshift mutation, and one patient had a MED12 missense mutation. Copy number amplification genes were mainly observed on chromosome 12q(13–15). In this study, PIK3/AKT/PTEN pathway mutations were found to be common in adenosarcoma. In addition, a rare BCORL1-PRR14L fusion mutation was also identified. These findings provide a basis for future research into these molecular changes in tumorigenesis and targeted therapy.
format Online
Article
Text
id pubmed-10555499
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Hindawi
record_format MEDLINE/PubMed
spelling pubmed-105554992023-10-06 Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations Li, Yao Meng, Xue Luo, Yuqing Huang, Xiang Luo, Shuai Wang, Jinjing Int J Anal Chem Research Article Uterine adenosarcoma (UA) is an uncommon mixed tumor containing a benign to at most mildly atypical epithelial component and a sarcoma-like stroma, usually a low-grade, stromal component, with rare heterogeneous elements. Currently, tumor etiology is largely unknown. To better understand the gene mutations in UA, next-generation sequencing (NGS) technology analysis was performed. This study showed that two low-grade UAs with heterologous components had ATRX gene frameshift mutation, and one patient had a MED12 missense mutation. Copy number amplification genes were mainly observed on chromosome 12q(13–15). In this study, PIK3/AKT/PTEN pathway mutations were found to be common in adenosarcoma. In addition, a rare BCORL1-PRR14L fusion mutation was also identified. These findings provide a basis for future research into these molecular changes in tumorigenesis and targeted therapy. Hindawi 2023-09-28 /pmc/articles/PMC10555499/ /pubmed/37810911 http://dx.doi.org/10.1155/2023/7436368 Text en Copyright © 2023 Yao Li et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Li, Yao
Meng, Xue
Luo, Yuqing
Huang, Xiang
Luo, Shuai
Wang, Jinjing
Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations
title Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations
title_full Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations
title_fullStr Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations
title_full_unstemmed Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations
title_short Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations
title_sort next-generation sequencing analysis of 3 uterine adenosarcomas with heterogeneously differentiated genomic mutations
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555499/
https://www.ncbi.nlm.nih.gov/pubmed/37810911
http://dx.doi.org/10.1155/2023/7436368
work_keys_str_mv AT liyao nextgenerationsequencinganalysisof3uterineadenosarcomaswithheterogeneouslydifferentiatedgenomicmutations
AT mengxue nextgenerationsequencinganalysisof3uterineadenosarcomaswithheterogeneouslydifferentiatedgenomicmutations
AT luoyuqing nextgenerationsequencinganalysisof3uterineadenosarcomaswithheterogeneouslydifferentiatedgenomicmutations
AT huangxiang nextgenerationsequencinganalysisof3uterineadenosarcomaswithheterogeneouslydifferentiatedgenomicmutations
AT luoshuai nextgenerationsequencinganalysisof3uterineadenosarcomaswithheterogeneouslydifferentiatedgenomicmutations
AT wangjinjing nextgenerationsequencinganalysisof3uterineadenosarcomaswithheterogeneouslydifferentiatedgenomicmutations