{"title":"宫颈原发性恶性黑色素瘤伴S100（黑素瘤女性蛋白标记物）阴性及新型ATM基因突变：病例报告及文献复习","authors":"Liang Wang","doi":"10.2147/IJWH.S499393","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"17 ","pages":"983-999"},"PeriodicalIF":2.5000,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11992989/pdf/","citationCount":"0","resultStr":"{\"title\":\"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.\",\"authors\":\"Liang Wang\",\"doi\":\"10.2147/IJWH.S499393\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":14356,\"journal\":{\"name\":\"International Journal of Women's Health\",\"volume\":\"17 \",\"pages\":\"983-999\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2025-04-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11992989/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Women's Health\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2147/IJWH.S499393\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Women's Health","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2147/IJWH.S499393","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
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.
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.
期刊介绍：
International Journal of Women''s Health is an international, peer-reviewed, open access, online journal. Publishing original research, reports, editorials, reviews and commentaries on all aspects of women''s healthcare including gynecology, obstetrics, and breast cancer. Subject areas include: Chronic conditions including cancers of various organs specific and not specific to women Migraine, headaches, arthritis, osteoporosis Endocrine and autoimmune syndromes - asthma, multiple sclerosis, lupus, diabetes Sexual and reproductive health including fertility patterns and emerging technologies to address infertility Infectious disease with chronic sequelae including HIV/AIDS, HPV, PID, and other STDs Psychological and psychosocial conditions - depression across the life span, substance abuse, domestic violence Health maintenance among aging females - factors affecting the quality of life including physical, social and mental issues Avenues for health promotion and disease prevention across the life span Male vs female incidence comparisons for conditions that affect both genders.
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