Cutaneous Metastasis of Rectal Cancer as a Diagnostic Challenge: A Clinical Case and Literature Review
Authors:
- Ekaterina ZelenovaEZEkaterina Zelenova
- Tatiana BelyshevaTBTatiana Belysheva
- Denis SofronovDSDenis Sofronov
- Vera SemenovaVSVera Semenova
- Galimat RadjabovaGRGalimat Radjabova
- Yana VishnevskayaYVYana Vishnevskaya
- Irina KletskayaIKIrina Kletskaya
- Elena SharapovaESElena Sharapova
- Ivan KarasevIKIvan Karasev
- Denis RomanovDRDenis Romanov
- Malika DenievaMDMalika Denieva
- Nikolay PetrochenkoNPNikolay Petrochenko
Open Access
- 30 October 2024
- journal article
- case report
- Published by MDPI AG in Diagnostics
- Vol. 14 (21) , 2420
Abstract
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.Keywords
Funding Information
- the Ministry of Health of the Russian Federation (NUYO-2023-0007)
This publication has 75 references indexed in Scilit:
- Diagnosis and Treatment of Metastatic Colorectal CancerJAMA, 2021
- Analysis of KRAS, NRAS, BRAF, PIK3CA and TP53 mutations in a large prospective series of locally advanced rectal cancer patientsInternational Journal of Cancer, 2019
- Understanding the Bone in Cancer MetastasisJournal of Bone and Mineral Research, 2018
- Variability in HER2 expression between primary colorectal cancer and corresponding metastasesJournal of Cancer Research and Clinical Oncology, 2018
- Mismatch repair deficiency concordance between primary colorectal cancer and corresponding metastasisFamilial Cancer, 2015
- Cutaneous Perianal Recurrence on the Site of Lone Star Retractor™ after J-pouch Coloanal Anastomosis for Rectal Cancer: Report of Two CasesDiseases of the Colon & Rectum, 2008
- Cutaneous and subcutaneous metastases of rectal cancerInternational Journal of Clinical Oncology, 2004
- Massive zosteriform cutaneous metastasis from rectal carcinomaTechniques in Coloproctology, 2003
- Inflammatory Cutaneous Metastasis from Rectal AdenocarcinomaDiseases of the Colon & Rectum, 2002
- Cutaneous metastases from internal carcinomaCancer, 1966