Department of Pathology, Mudanjiang Medical University Affiliated Hongqi Hospital, No.5 Tongxiang Road, Aimin District, Mudanjiang, Heilongjiang, 157011, China.
Diagn Pathol. 2024 Sep 17;19(1):126. doi: 10.1186/s13000-024-01535-9.
Submucosal pseudoinvasion and squamous metaplasia (SM) are incidental and special morphological findings in colorectal adenomas, and both can mimic invasive carcinoma. The coexistence of these two findings further increases the risk of misdiagnosis, posing a great diagnostic challenge to pathologists. From 1979 to 2022, only 8 cases have been reported, which was extremely rare. In this report, we presented a case of sigmoid colon adenoma accompanied by pseudoinvasion and SM. Additionally, relevant literature was analyzed to summarize the clinical and pathological characteristics.
A 51-year-old Chinese male patient presented with fresh blood after defecation. Electronic colonoscopy revealed multiple polyps, which were removed using a snare and subjected to high-frequency electrocoagulation resection. The largest polyp, located in the sigmoid colon, was a thick pedunculated and lobulated polyp with a maximum diameter of 2.8 cm. The surface of the polyp showed slight ruggedness and redness, and it was sent for pathological examination. Grossly, the polyp had a lobulated and slightly rough surface. Microscopically, it showed a tubulovillous adenoma with focal high-grade dysplasia and mucosal muscle hyperplasia. Glandular elements were observed in the submucosal layer, forming a well-defined lobular structure. Some of the glands displayed cystic change, and focal SM could be seen within the adenoma. SM could manifest as discrete solid cell nests of varying sizes or cribriform-morular-like structures. Immunohistochemical staining showed that SM cells were diffusely positive for cytokeratin 5/6 (CK5/6); p40, p63, and cytokeratin 20 (CK20) were negative; while caudal type homeobox 2 (CDX2) was weakly positive. β-catenin showed abnormal nuclear expression, and an extremely low Ki67 proliferation index was observed.
Coexistence of SM and pseudoinvasion in colorectal adenomas is highly rare. It is more commonly observed in males and tends to occur in the sigmoid colon. It primarily manifests in tubulovillous adenoma and tubular adenoma, with a majority of cases exhibiting a pedicle. Histologically, it is similar to invasive lesions. The cystic dilation of the submucosal glands, hemosiderin deposition, and the presence of a lamina propria around the submucosal glands without adjacent desmoplastic reaction, suggest pseudoinvasion rather than cancer. The bland cytological morphology and Immunohistochemical markers play a crucial role in distinguishing SM from true invasive lesions.
黏膜下假浸润和鳞状上皮化生(SM)是结直肠腺瘤中的偶发特殊形态学表现,两者均可模拟浸润性癌。这两种表现同时存在会进一步增加误诊的风险,给病理学家带来了极大的诊断挑战。从 1979 年到 2022 年,仅有 8 例报告,极为罕见。本报告介绍了一例伴有假浸润和 SM 的乙状结肠腺瘤病例,并对相关文献进行了分析,总结了其临床和病理特征。
一名 51 岁的中国男性患者因排便后出现新鲜血便就诊。电子结肠镜检查发现多个息肉,使用圈套器切除并进行高频电凝切除术。最大的息肉位于乙状结肠,为带蒂的厚蒂、分叶状息肉,最大直径 2.8cm。息肉表面稍粗糙发红,送病理检查。大体上,息肉呈分叶状,表面稍粗糙。镜下,表现为管状绒毛状腺瘤,局灶高级别异型增生,黏膜肌层增生。黏膜下层可见腺体成分,形成明确的小叶结构。部分腺体呈囊性改变,腺瘤内可见局灶性 SM。SM 可表现为离散的大小不等的实性细胞巢或筛状-珠状样结构。免疫组织化学染色显示 SM 细胞弥漫 CK5/6(角蛋白 5/6)阳性,p40、p63 和 CK20(细胞角蛋白 20)阴性,CDX2(尾型同源盒 2)弱阳性。β-连环蛋白呈异常核表达,Ki67 增殖指数极低。
结直肠腺瘤中 SM 和假浸润同时存在极为罕见,更常见于男性,多发生于乙状结肠,主要发生于管状绒毛状腺瘤和管状腺瘤,多数为带蒂息肉。组织学上与浸润性病变相似。黏膜下腺囊性扩张、含铁血黄素沉积,以及黏膜下腺周围有固有层而无邻近的纤维反应,提示为假浸润而非癌症。细胞形态学温和及免疫组化标志物对鉴别 SM 与真正的浸润性病变具有重要作用。