Koh Hyun-Hee, Park Eunhyang, Kim Hyun-Soo
Department of Pathology, Severance Hospital, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
Biomedicines. 2023 Aug 15;11(8):2269. doi: 10.3390/biomedicines11082269.
Data on genetic and immunophenotypical characteristics of uterine mesonephric-like adenocarcinoma (MLA) remain limited. Therefore, we aimed to investigate the clinicopathological, immunohistochemical, and molecular features of uterine MLA. We performed targeted sequencing, array comparative genomic hybridization, and immunostaining in 17, 13, and 17 uterine MLA cases, respectively. Nine patients developed lung metastases. Eleven patients experienced disease recurrences. The most frequently mutated gene was Kirsten rat sarcoma viral oncogene homolog (; 13/17). Both the primary and matched metastatic tumors harbored identical (3/4) and phosphatase and tensin homolog deleted on chromosome 10 (1/4) mutations, and did not harbor any additional mutations. A total of 2 of the 17 cases harbored tumor protein 53 () frameshift insertion and deletion, respectively. Chromosomal gains were detected in 1q (13/13), 10 (13/13), 20 (10/13), 2 (9/13), and 12 (6/13). Programmed cell death-ligand 1 overexpression or mismatch repair deficiency was not observed in any of the cases. Initial serosal extension and lung metastasis independently predicted recurrence-free survival with hazard ratios of 6.30 and 7.31, respectively. Our observations consolidated the clinicopathological and molecular characteristics of uterine MLA. Both clinicians and pathologists should consider these features to make an accurate diagnosis of uterine MLA and to ensure appropriate therapeutic management of this rare entity.
子宫中肾样腺癌(MLA)的遗传和免疫表型特征数据仍然有限。因此,我们旨在研究子宫MLA的临床病理、免疫组化和分子特征。我们分别对17例、13例和17例子宫MLA病例进行了靶向测序、阵列比较基因组杂交和免疫染色。9例患者发生了肺转移。11例患者出现疾病复发。最常发生突变的基因是 Kirsten 大鼠肉瘤病毒癌基因同源物(;13/17)。原发性肿瘤和配对的转移瘤均存在相同的(3/4)和10号染色体上缺失的磷酸酶和张力蛋白同源物(1/4)突变,且未发现任何其他突变。17例病例中共有2例分别存在肿瘤蛋白53()移码插入和缺失。在1q(13/13)、10(13/13)、20(10/13)、2(9/13)和12(6/13)检测到染色体增加。所有病例均未观察到程序性细胞死亡配体1过表达或错配修复缺陷。初始浆膜侵犯和肺转移分别以6.30和7.31的风险比独立预测无复发生存。我们的观察结果巩固了子宫MLA的临床病理和分子特征。临床医生和病理学家都应考虑这些特征,以准确诊断子宫MLA,并确保对这种罕见疾病进行适当的治疗管理。