直肠癌皮肤转移是诊断难题:临床病例与文献综述。

IF 3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Diagnostics Pub Date : 2024-10-30 DOI:10.3390/diagnostics14212420
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
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引用次数: 0

摘要

背景/目标:转移性结直肠癌仍然是一种致命疾病,5 年生存率低于 15%。最常见的转移部位是肺部和肝脏,而皮肤转移非常罕见,通常预示着预后不良,生存率较低。方法。在此,我们提供了一例 62 岁女性直肠癌肛门和腹部皮肤转移患者的临床病例,该患者在完成基础疾病治疗 2 年后被确诊。检查结果皮肤病变的组织学检查显示为腺癌,在原发肿瘤和皮肤转移灶中也发现了相同免疫组化标记物的表达。然而,新一代测序结果显示,原发肿瘤和皮肤转移瘤的突变特征存在差异。在原发性直肠腺癌中发现了 APC、TP53 和 PTPN11 基因的体细胞突变,但在皮肤转移瘤中发现了另一个致病性 TP53 突变和 DYNC1I1 基因的帧移变异。该患者接受了几个疗程的 FOLFOX6 化疗联合贝伐单抗治疗,但治疗并不成功。对文献中有关直肠癌皮肤转移各种表现的 50 例临床病例进行分析后发现,从发现皮肤病变时算起,患者的中位生存期为 8.5 个月。由此得出结论:因此,对直肠癌患者进行仔细的皮肤检查并及时发现皮肤转移灶是对接受过原发肿瘤治疗的患者进行随访的必要步骤。
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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.

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来源期刊
Diagnostics
Diagnostics Biochemistry, 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.
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