Primary Malignant Melanoma of the Uterine Cervix with S100 (Protein Marker Seen in Women with Melanoma) Negative Status and Novel ATM Gene Mutation: Case Report and Literature Review

Liang Wang Department of Gynecology and Obstetrics, Tianjin NanKai Hospital, Tianjin, 300100, People’s Republic of ChinaCorrespondence: 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 [email protected]: 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