全外显子组测序鉴定的卵巢成熟囊性畸胎瘤中的 DUSP5 和 PHLDA1 突变可能解释了畸胎瘤的特征。

DUSP5 and PHLDA1 mutations in mature cystic teratomas of the ovary identified on whole-exome sequencing may explain teratoma characteristics.

机构信息

Department of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung, 412, Taiwan.

Department of Medical Laboratory and Biotechnology, Chung Shan Medical University, No. 110, Sec. 1, Chien Kuo N. Road, Taichung, 402, Taiwan.

出版信息

Hum Genomics. 2022 Oct 26;16(1):50. doi: 10.1186/s40246-022-00424-w.

DOI:10.1186/s40246-022-00424-w

PMID:36289533

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9609193/

Abstract

BACKGROUND

Mature cystic teratomas of the ovary are the most common type of germ cell tumor, comprising 33% of ovarian tumors. Studying these tumors may result in a better understanding of their stepwise developmental processes and molecular bases and provide useful information for the development of tissue-engineering technologies.

METHODS

In the present study, 9 mature cystic teratomas of the ovary were analyzed by whole-exome sequencing and the results were compared with the Catalogue of Somatic Mutations in Cancer and dbSNP databases.

RESULTS

Mutations were validated in 15 genes with alterations in all 9 (100%) samples and changes in protein coding. The top 10 mutated genes were FLG, MUC17, MUC5B, RP1L1, NBPF1, GOLGA6L2, SLC29A3, SGK223, PTGFRN, and FAM186A. Moreover, 7 variants in exons with changes in protein coding are likely of importance in the development of mature cystic teratomas of the ovary, namely PTGFRN, DUSP5, MPP2, PHLDA1, PRR21, GOLGA6L2, and KRTAP4-2.

CONCLUSIONS

These genetic alterations may play an important etiological role in teratoma formation. Moreover, novel mutations in DUSP5 and PHLDA1 genes found on whole-exome sequencing may help to explain the characteristics of teratomas.

摘要

背景

成熟囊性畸胎瘤是卵巢最常见的生殖细胞肿瘤类型，占卵巢肿瘤的 33%。对这些肿瘤的研究可能有助于更好地了解其逐步发育过程和分子基础，并为组织工程技术的发展提供有用的信息。

方法

本研究通过全外显子组测序分析了 9 例成熟囊性畸胎瘤，并将结果与癌症体细胞突变目录和 dbSNP 数据库进行了比较。

结果

在所有 9 例（100%）样本中均验证了 15 个基因的突变，这些突变改变了蛋白编码。排名前 10 的突变基因依次为：FLG、MUC17、MUC5B、RP1L1、NBPF1、GOLGA6L2、SLC29A3、SGK223、PTGFRN 和 FAM186A。此外，7 个外显子中的变异可能与蛋白编码的变化一起，对卵巢成熟囊性畸胎瘤的发生具有重要意义，这些基因包括：PTGFRN、DUSP5、MPP2、PHLDA1、PRR21、GOLGA6L2 和 KRTAP4-2。