Microsatellite Stable Colorectal Tumours in Patients with Lynch Syndrome: A Case Report and Systematic Review Analysing Clinical Features and Implications for Immunotherapy.

IF 1.6 Q4 ONCOLOGY
Fani Kapoulitsa, Davide Mauri, Konstantinos K Tsilidis, Konstantinos Katsanos, Eleni Timotheadou, Maria Smaragdi Vlachou, Konstantinos Kamposioras
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引用次数: 0

Abstract

Purpose: Lynch syndrome is an autosomal dominant genetic disorder associated with early-onset colorectal cancer (CRC), endometrial cancer and other malignancies. This condition is defined by deficient DNA mismatch repair and high microsatellite instability (dMMR/MSI-high), exhibiting a substantial response to immunotherapy. However, microsatellite-stable (MSS) tumours may infrequently occur in individuals with Lynch syndrome. Our aim was to evaluate the efficacy of immunotherapy in patients with Lynch Syndrome and dMMR/MSS colorectal cancer.

Methods: A systematic review of the literature in medical databases, major related conferences and relevant oncology journals was conducted to identify the available evidence. Medical records from the Medical and Clinical Oncology Department of the University Hospital of Ioannina were also reviewed.

Results: Four cases of MSS colorectal cancer associated with Lynch syndrome and MSH6 germline mutation were identified. Three of these four patients were treated with immune checkpoint inhibitors. Two patients with metastatic disease experienced disease progression, but one patient who received neoadjuvant immunotherapy achieved a partial response. All four patients were diagnosed with colorectal cancer in ages younger than 52 (16-51 years old).

Conclusion: MSS CRC tumours in patients with Lynch syndrome is an infrequent phenomenon and under-represented in the literature. The limited efficacy of immune checkpoint inhibitors is highlighted in this rare subset of patients.

目的:林奇综合征是一种常染色体显性遗传疾病,与早发结直肠癌(CRC)、子宫内膜癌和其他恶性肿瘤有关。这种疾病的特征是 DNA 错配修复缺陷和高微卫星不稳定性(dMMR/MSI-高),对免疫疗法有很大的反应。然而,微卫星稳定(MSS)肿瘤可能很少发生在林奇综合征患者身上。我们的目的是评估免疫疗法对林奇综合征和dMMR/MSS结直肠癌患者的疗效:我们对医学数据库、主要相关会议和相关肿瘤学期刊中的文献进行了系统回顾,以确定可用证据。此外,还查阅了约阿尼纳大学医院肿瘤内科和临床科的病历:结果:共发现四例与林奇综合征和 MSH6 基因突变相关的 MSS 结直肠癌病例。这四例患者中有三例接受了免疫检查点抑制剂治疗。两名转移性疾病患者的病情出现进展,但一名接受新辅助免疫疗法的患者获得了部分应答。这四名患者被确诊为结直肠癌的年龄均小于52岁(16-51岁):结论:林奇综合征患者中的MSS结直肠癌肿瘤并不常见,在文献中的代表性不足。免疫检查点抑制剂对这一罕见亚群患者的有限疗效凸显。
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来源期刊
CiteScore
3.80
自引率
0.00%
发文量
121
期刊介绍: The Journal of Gastrointestinal Cancer is a multidisciplinary medium for the publication of novel research pertaining to cancers arising from the gastrointestinal tract.The journal is dedicated to the most rapid publication possible.The journal publishes papers in all relevant fields, emphasizing those studies that are helpful in understanding and treating cancers affecting the esophagus, stomach, liver, gallbladder and biliary tree, pancreas, small bowel, large bowel, rectum, and anus. In addition, the Journal of Gastrointestinal Cancer publishes basic and translational scientific information from studies providing insight into the etiology and progression of cancers affecting these organs. New insights are provided from diverse areas of research such as studies exploring pre-neoplastic states, risk factors, epidemiology, genetics, preclinical therapeutics, surgery, radiation therapy, novel medical therapeutics, clinical trials, and outcome studies.In addition to reports of original clinical and experimental studies, the journal also publishes: case reports, state-of-the-art reviews on topics of immediate interest or importance; invited articles analyzing particular areas of pancreatic research and knowledge; perspectives in which critical evaluation and conflicting opinions about current topics may be expressed; meeting highlights that summarize important points presented at recent meetings; abstracts of symposia and conferences; book reviews; hypotheses; Letters to the Editors; and other items of special interest, including:Complex Cases in GI Oncology:  This is a new initiative to provide a forum to review and discuss the history and management of complex and involved gastrointestinal oncology cases. The format will be similar to a teaching case conference where a case vignette is presented and is followed by a series of questions and discussion points. A brief reference list supporting the points made in discussion would be expected.
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