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子宫颈原发性恶性黑色素瘤伴 S100(女性黑色素瘤患者中可见的蛋白质标志物)阴性状态及新型 ATM 基因突变:病例报告及文献综述
Authors Wang L
Received 25 October 2024
Accepted for publication 27 March 2025
Published 8 April 2025 Volume 2025:17 Pages 983—999
DOI http://doi.org/10.2147/IJWH.S499393
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Dr Everett Magann
Liang Wang
Department of Gynecology and Obstetrics, Tianjin NanKai Hospital, Tianjin, 300100, People’s Republic of China
Correspondence: Liang Wang, Department of Gynecology and Obstetrics, Tianjin NanKai Hospital, No. 6 Changjiang Road, Nankai District, Tianjin, 300100, People’s Republic of China, Tel +86-13802092719, Email liangwang0808@gmail.com
Abstract: Malignant melanoma (MM) is a relatively common malignant tumor. It mostly occurs in the skin, uvea of the eye, oral cavity, esophagus and anus, etc. Primary melanoma of the uterine cervix is very rare, with only more than 100 cases reported worldwide so far. In this article, we report a 42-year-old patient with primary cervical malignant melanoma. This case recorded the patient’s entire process from onset, surgery, progression, treatment, deterioration, and death. The patient began to seek medical treatment after the discovery of cervical vegetations and eventually died of brain metastasis. The patient was negative for S100 by immunohistochemistry and had a frameshift mutation in the Ataxia-telangiectasia mutated (ATM) gene by genetic testing. This has never been described in previous cases and is reported for the first time.
Keywords: uterine cervix, malignant melanoma, S100 negative, ATM gene