Department of Pathology, Gazi University Faculty of Medicine, ANKARA, TURKEY.
Turk Patoloji Derg. 2023;39(3):169-178. doi: 10.5146/tjpath.2023.01603.
In a study of Merkel cell carcinoma (MCC), a fusion transcript between MLH1 and SPATA4 was identified. This fusion has the potential to generate the inactive or dominant-negative form of the protein. Therefore, we aimed to investigate whether mismatch repair protein deficiency occurr in MCC cases or not, in addition to the overall survival association with histopathologic features.
A retrospective review of 15 patients diagnosed with a biopsy-proven Merkel Cell Carcinoma between 2012 and 2019 was performed. Mismatch repair (MMR) protein expressions were evaluated by immunohistochemistry.
The median follow-up time was 36 months (mean 41, range 2-103 months). Six (40%) patients died during follow-up. The overall survival (OS) at 1 year, 2 years, 3 years, and 5 years were 87%, 80%, 62%, and 53%, respectively. The patients diagnosed at < 60 years had an improved OS compared to those ≥60 years of age (p=0.016). Patients in clinical stage I had better OS than patients in clinical stage IV (p=0.011). Cases with pathological tumor stage (pT) 1 had better OS than pT3 and pT4 (p=0.045). Adjuvant radiotherapy or adjuvant radiotherapy+chemotherapy treatment improved OS compared to adjuvant chemotherapy (p=0.003). MMR protein nuclear expression was intact in 12 cases available for immunohistochemical study.
To the best of our knowledge, this is the second study that preferentially investigated the mismatch repair protein status of Merkel Cell Carcinoma. No mismatch repair protein deficiency of MCC cases was identified in the current study.
在一项研究中,发现了 Merkel 细胞癌 (MCC) 中 MLH1 和 SPATA4 之间的融合转录本。该融合体有可能产生蛋白的失活或显性负形式。因此,我们旨在调查除了组织病理学特征与总生存的相关性外,MCC 病例中是否存在错配修复蛋白缺陷。
对 2012 年至 2019 年间经活检证实的 15 例 Merkel 细胞癌患者进行了回顾性研究。通过免疫组织化学评估错配修复(MMR)蛋白的表达。
中位随访时间为 36 个月(平均 41 个月,范围 2-103 个月)。随访期间有 6 例(40%)患者死亡。1 年、2 年、3 年和 5 年的总生存率(OS)分别为 87%、80%、62%和 53%。<60 岁患者的 OS 优于≥60 岁患者(p=0.016)。临床分期 I 期患者的 OS 优于 IV 期患者(p=0.011)。病理肿瘤分期(pT)1 期患者的 OS 优于 pT3 和 pT4 期患者(p=0.045)。与辅助化疗相比,辅助放疗或辅助放疗+化疗治疗可提高 OS(p=0.003)。在 12 例可进行免疫组织化学研究的病例中,MMR 蛋白核表达完整。
据我们所知,这是第二项优先研究 Merkel 细胞癌错配修复蛋白状态的研究。本研究未发现 MCC 病例存在错配修复蛋白缺陷。