Ekaterina Zelenova, Tatiana Belysheva, Denis Sofronov, Vera Semenova, Galimat Radjabova, Yana Vishnevskaya, Irina Kletskaya, Elena Sharapova, Ivan Karasev, Denis Romanov, Malika Denieva, Nikolay Petrochenko, Timur Valiev, Tatiana Nasedkina
{"title":"直肠癌皮肤转移是诊断难题:临床病例与文献综述。","authors":"Ekaterina Zelenova, Tatiana Belysheva, Denis Sofronov, Vera Semenova, Galimat Radjabova, Yana Vishnevskaya, Irina Kletskaya, Elena Sharapova, Ivan Karasev, Denis Romanov, Malika Denieva, Nikolay Petrochenko, Timur Valiev, Tatiana Nasedkina","doi":"10.3390/diagnostics14212420","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background/Objectives:</b> Metastatic colorectal cancer remains a fatal disease, with a 5-year survival rate lower than 15%. The most common metastatic sites are the lungs and the liver, while skin metastases are very rare and often indicate a poor prognosis with a lower survival rate. Methods. Herein, we present the clinical case of a 62-year-old female patient with rectal cancer metastases to the skin of the anogenital and abdominal regions, diagnosed 2 years after completion of treatment of the underlying disease. <b>Results:</b> Histological examination of the skin lesions revealed adenocarcinoma, and expression of the same immunohistochemical markers was also found in the primary tumor and in the cutaneous metastases. However, next-generation sequencing demonstrated differences in the mutational profiles of the primary tumor and metastasis to the skin. Somatic mutations in the <i>APC</i>, <i>TP53</i>, and <i>PTPN11</i> genes were revealed in primary rectal adenocarcinoma, but another pathogenic <i>TP53</i> mutation and a frameshift variant in the <i>DYNC1I1</i> gene were found in cutaneous metastases. The patient underwent several courses of FOLFOX6 chemotherapy in combination with bevacizumab, but the treatment was unsuccessful. An analysis of 50 clinical cases from the literature concerning various manifestations of cutaneous metastases of rectal cancer showed a median survival of 8.5 months from the time of detection of the skin lesions. <b>Conclusions:</b> In this regard, careful skin examination of patients with rectal cancer and timely detection of cutaneous metastases are essential steps in the follow-up of patients who have undergone treatment of the primary tumor.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"14 21","pages":""},"PeriodicalIF":3.0000,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545733/pdf/","citationCount":"0","resultStr":"{\"title\":\"Cutaneous Metastasis of Rectal Cancer as a Diagnostic Challenge: A Clinical Case and Literature Review.\",\"authors\":\"Ekaterina Zelenova, Tatiana Belysheva, Denis Sofronov, Vera Semenova, Galimat Radjabova, Yana Vishnevskaya, Irina Kletskaya, Elena Sharapova, Ivan Karasev, Denis Romanov, Malika Denieva, Nikolay Petrochenko, Timur Valiev, Tatiana Nasedkina\",\"doi\":\"10.3390/diagnostics14212420\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Background/Objectives:</b> Metastatic colorectal cancer remains a fatal disease, with a 5-year survival rate lower than 15%. The most common metastatic sites are the lungs and the liver, while skin metastases are very rare and often indicate a poor prognosis with a lower survival rate. Methods. Herein, we present the clinical case of a 62-year-old female patient with rectal cancer metastases to the skin of the anogenital and abdominal regions, diagnosed 2 years after completion of treatment of the underlying disease. <b>Results:</b> Histological examination of the skin lesions revealed adenocarcinoma, and expression of the same immunohistochemical markers was also found in the primary tumor and in the cutaneous metastases. However, next-generation sequencing demonstrated differences in the mutational profiles of the primary tumor and metastasis to the skin. Somatic mutations in the <i>APC</i>, <i>TP53</i>, and <i>PTPN11</i> genes were revealed in primary rectal adenocarcinoma, but another pathogenic <i>TP53</i> mutation and a frameshift variant in the <i>DYNC1I1</i> gene were found in cutaneous metastases. 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An analysis of 50 clinical cases from the literature concerning various manifestations of cutaneous metastases of rectal cancer showed a median survival of 8.5 months from the time of detection of the skin lesions. <b>Conclusions:</b> In this regard, careful skin examination of patients with rectal cancer and timely detection of cutaneous metastases are essential steps in the follow-up of patients who have undergone treatment of the primary tumor.</p>\",\"PeriodicalId\":11225,\"journal\":{\"name\":\"Diagnostics\",\"volume\":\"14 21\",\"pages\":\"\"},\"PeriodicalIF\":3.0000,\"publicationDate\":\"2024-10-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545733/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Diagnostics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3390/diagnostics14212420\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diagnostics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3390/diagnostics14212420","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Cutaneous Metastasis of Rectal Cancer as a Diagnostic Challenge: A Clinical Case and Literature Review.
Background/Objectives: Metastatic colorectal cancer remains a fatal disease, with a 5-year survival rate lower than 15%. The most common metastatic sites are the lungs and the liver, while skin metastases are very rare and often indicate a poor prognosis with a lower survival rate. Methods. Herein, we present the clinical case of a 62-year-old female patient with rectal cancer metastases to the skin of the anogenital and abdominal regions, diagnosed 2 years after completion of treatment of the underlying disease. Results: Histological examination of the skin lesions revealed adenocarcinoma, and expression of the same immunohistochemical markers was also found in the primary tumor and in the cutaneous metastases. However, next-generation sequencing demonstrated differences in the mutational profiles of the primary tumor and metastasis to the skin. Somatic mutations in the APC, TP53, and PTPN11 genes were revealed in primary rectal adenocarcinoma, but another pathogenic TP53 mutation and a frameshift variant in the DYNC1I1 gene were found in cutaneous metastases. The patient underwent several courses of FOLFOX6 chemotherapy in combination with bevacizumab, but the treatment was unsuccessful. An analysis of 50 clinical cases from the literature concerning various manifestations of cutaneous metastases of rectal cancer showed a median survival of 8.5 months from the time of detection of the skin lesions. Conclusions: In this regard, careful skin examination of patients with rectal cancer and timely detection of cutaneous metastases are essential steps in the follow-up of patients who have undergone treatment of the primary tumor.
DiagnosticsBiochemistry, Genetics and Molecular Biology-Clinical Biochemistry
CiteScore
4.70
自引率
8.30%
发文量
2699
审稿时长
19.64 days
期刊介绍:
Diagnostics (ISSN 2075-4418) is an international scholarly open access journal on medical diagnostics. It publishes original research articles, reviews, communications and short notes on the research and development of medical diagnostics. There is no restriction on the length of the papers. Our aim is to encourage scientists to publish their experimental and theoretical research in as much detail as possible. Full experimental and/or methodological details must be provided for research articles.