Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.
Digestive Center for Diagnosis and Treatment, Damascus, Syrian Arab Republic.
J Gastroenterol. 2021 Jan;56(1):12-24. doi: 10.1007/s00535-020-01736-1. Epub 2020 Oct 20.
Verrucous esophageal carcinoma (VEC) is a rare malignancy that presents a diagnostic challenge. We aim to characterize the clinical and genomic features, tumor behavior, and treatment outcomes of VEC to guide clinical practice.
We performed a systematic review of the literature and identified additional cases from Massachusetts General Hospital records and The Cancer Genome Atlas (TCGA). We obtained individual VEC patient data and analyzed publicly available clinicogenomic data from TCGA. We performed a regression analysis comparing cases of VEC to esophageal squamous cell carcinoma (ESCC) to identify factors influencing survival.
A total of 135 patients were reported in 82 publications, and four unpublished cases from Massachusetts General Hospital (median age 65 years, 69% males, 48% smokers, 33% consumed alcohol). Symptoms were present at diagnosis in 95% of patients, most commonly dysphagia and weight loss. Median symptom onset to diagnosis time was 11.5 months with frequent misdiagnosis as Candida esophagitis. Among VEC cases with pathologic staging, lymph node metastases were rare (5%) compared to ESCC (40%). VEC was genomically characterized by enrichment of SMARCA4 missense mutations and a lack of pathogenic TP53 mutations. Despite its diagnostic elusiveness, in a multivariate regression analysis, VEC was detected at earlier stages (p = < 0.001) compared to ESCC, and advanced stage was the only significant factor affecting survival (p = 0.013).
VEC is a rare, clinically and genomically distinct subtype of ESCC. Recognition and diagnosis of this lesion may allow the pursuit of curative and less morbid treatment strategies.
疣状食管癌（VEC）是一种罕见的恶性肿瘤，具有诊断挑战性。我们旨在描述 VEC 的临床和基因组特征、肿瘤行为和治疗结果，以指导临床实践。
我们进行了文献系统回顾，并从马萨诸塞州综合医院的病历和癌症基因组图谱（TCGA）中确定了其他病例。我们获得了 VEC 患者的个体数据，并分析了 TCGA 中公开的临床基因组数据。我们进行了回归分析，比较了 VEC 病例与食管鳞状细胞癌（ESCC），以确定影响生存的因素。
在 82 篇出版物中报告了 135 例患者，马萨诸塞州综合医院有 4 例未发表的病例（中位年龄 65 岁，男性 69%，吸烟者 48%，饮酒者 33%）。95%的患者在诊断时出现症状，最常见的是吞咽困难和体重减轻。症状出现到诊断的中位时间为 11.5 个月，常误诊为念珠菌性食管炎。在具有病理分期的 VEC 病例中，与 ESCC（40%）相比，淋巴结转移罕见（5%）。VEC 在基因组上的特征是 SMARCA4 错义突变的富集和缺乏致病性 TP53 突变。尽管其诊断具有迷惑性，但在多变量回归分析中，VEC 比 ESCC 更早被发现（p<0.001），晚期是影响生存的唯一显著因素（p=0.013）。
VEC 是一种罕见的、临床和基因组上有区别的 ESCC 亚型。识别和诊断这种病变可能会促使我们采用更具治愈性和更少侵袭性的治疗策略。
