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子宫非典型中肾样增生具有克氏大鼠肉瘤病毒癌基因同源物 () 的致病性突变和 1q 染色体获得。

Atypical Mesonephric Hyperplasia of the Uterus Harbors Pathogenic Mutation of Kirsten Rat Sarcoma 2 Viral Oncogene Homolog () and Gain of Chromosome 1q.

机构信息

Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Department of Pathology, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Republic of Korea.

出版信息

Cancer Genomics Proteomics. 2020 Nov-Dec;17(6):813-826. doi: 10.21873/cgp.20235.

Abstract

BACKGROUND/AIM: Mesonephric carcinoma (MNC) is a rare but notable entity of the female genital tract. While many researchers have acknowledged and studied MNC, much remains unknown on the characteristics of mesonephric remnant (MNR) or hyperplasia (MNH). There has not been any study examining the molecular features of MNR and MNH so far. The aim of this study was to investigate the clinicopathological and molecular characteristics of ten uterine mesonephric lesions, including two MNRs without atypia, four MNHs without atypia, and three MNHs with atypia.

MATERIALS AND METHODS

We reviewed the electronic medical records and all available slides of ten cases from multiple institutions. Targeted sequencing and array comparative genomic hybridization were performed.

RESULTS

Three atypical MNHs displayed nuclear enlargement, mild-to-moderate nuclear pleomorphism, and nuclear membrane irregularity, and harbored pathogenic Kirsten rat sarcoma 2 viral oncogene homolograt sarcoma 2 viral oncogene homolog (KRAS) mutation. Two of those that co-existed with MNC harbored the same sequence alterations as each of their adjacent MNC. One of the three atypical MNHs harbored chromosome 1q gain.

CONCLUSION

Atypical MNH is a potential premalignant lesion in which KRAS mutation and chromosome 1q gain play an important role in the early stage of mesonephric carcinogenesis.

摘要

背景/目的:中肾腺癌(MNC)是女性生殖道罕见但值得注意的实体肿瘤。虽然许多研究人员已经认识到并研究了 MNC,但对中肾残迹(MNR)或增生(MNH)的特征仍知之甚少。到目前为止,还没有研究检查 MNR 和 MNH 的分子特征。本研究旨在探讨 10 例子宫中肾瘤病变的临床病理和分子特征,包括 2 例无异型增生的 MNR、4 例无异型增生的 MNH 和 3 例有异型增生的 MNH。

材料和方法

我们回顾了来自多个机构的 10 例病例的电子病历和所有可用切片。进行了靶向测序和阵列比较基因组杂交。

结果

3 例异型增生的 MNH 表现为核增大、轻度至中度核异型性和核膜不规则,并携带致病性 Kirsten 大鼠肉瘤 2 病毒癌基因同源性大鼠肉瘤 2 病毒癌基因同源性(KRAS)突变。其中 2 例与 MNC 共存的病例与它们相邻的 MNC 具有相同的序列改变。3 例异型增生的 MNH 中有 1 例存在 1q 染色体增益。

结论

异型增生的 MNH 是一种潜在的癌前病变,KRAS 突变和 1q 染色体增益在中肾癌发生的早期阶段发挥重要作用。

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