Cutaneous Metastasis of Rectal Cancer as a Diagnostic Challenge: A Clinical Case and Literature Review
<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...
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MDPI AG
2024-10-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/14/21/2420 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Ekaterina Zelenova |
| collection | DOAJ |
| description | <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. |
| format | Article |
| id | doaj-art-ef296b6e0db84bb18871ccd3369d29cf |
| institution | OA Journals |
| issn | 2075-4418 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj-art-ef296b6e0db84bb18871ccd3369d29cf2025-08-20T02:14:15ZengMDPI AGDiagnostics2075-44182024-10-011421242010.3390/diagnostics14212420Cutaneous Metastasis of Rectal Cancer as a Diagnostic Challenge: A Clinical Case and Literature ReviewEkaterina Zelenova0Tatiana Belysheva1Denis Sofronov2Vera Semenova3Galimat Radjabova4Yana Vishnevskaya5Irina Kletskaya6Elena Sharapova7Ivan Karasev8Denis Romanov9Malika Denieva10Nikolay Petrochenko11Timur Valiev12Tatiana Nasedkina13N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of the Russian Federation, 115478 Moscow, RussiaN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of the Russian Federation, 115478 Moscow, RussiaN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of the Russian Federation, 115478 Moscow, RussiaN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of the Russian Federation, 115478 Moscow, RussiaI.M. Sechenov First Moscow State Medical University, Ministry of Health of the Russian Federation, 119048 Moscow, RussiaN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of the Russian Federation, 115478 Moscow, RussiaRussian Children’s Clinical Hospital, Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, 119571 Moscow, RussiaN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of the Russian Federation, 115478 Moscow, RussiaN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of the Russian Federation, 115478 Moscow, RussiaCenter of Innovative Medical Technologies, 119991 Moscow, RussiaDepartment of Polyclinic Therapy, Chechen State University, 364061 Grozny, RussiaN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of the Russian Federation, 115478 Moscow, RussiaN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of the Russian Federation, 115478 Moscow, RussiaEngelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia<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.https://www.mdpi.com/2075-4418/14/21/2420rectal cancercutaneous metastasesimmunohistochemistrysomatic mutationsnext generation sequencing |
| spellingShingle | 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 Cutaneous Metastasis of Rectal Cancer as a Diagnostic Challenge: A Clinical Case and Literature Review Diagnostics rectal cancer cutaneous metastases immunohistochemistry somatic mutations next generation sequencing |
| title | Cutaneous Metastasis of Rectal Cancer as a Diagnostic Challenge: A Clinical Case and Literature Review |
| title_full | Cutaneous Metastasis of Rectal Cancer as a Diagnostic Challenge: A Clinical Case and Literature Review |
| title_fullStr | Cutaneous Metastasis of Rectal Cancer as a Diagnostic Challenge: A Clinical Case and Literature Review |
| title_full_unstemmed | Cutaneous Metastasis of Rectal Cancer as a Diagnostic Challenge: A Clinical Case and Literature Review |
| title_short | Cutaneous Metastasis of Rectal Cancer as a Diagnostic Challenge: A Clinical Case and Literature Review |
| title_sort | cutaneous metastasis of rectal cancer as a diagnostic challenge a clinical case and literature review |
| topic | rectal cancer cutaneous metastases immunohistochemistry somatic mutations next generation sequencing |
| url | https://www.mdpi.com/2075-4418/14/21/2420 |
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