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结直肠浸润性层状黏蛋白腺癌:拓宽大肠肿瘤的形态学谱。

Invasive stratified mucin-producing carcinoma of the colorectum: expanding the morphologic spectrum of large bowel cancer.

机构信息

Department of Pathology & Laboratory Medicine, University of Ottawa and The Ottawa Hospital, 501 Smyth Road, General Campus, Ottawa, ON, K2H 1L6, Canada.

出版信息

Diagn Pathol. 2023 Oct 18;18(1):113. doi: 10.1186/s13000-023-01396-8.

DOI:10.1186/s13000-023-01396-8
PMID:37853375
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10585790/
Abstract

BACKGROUND

Invasive stratified mucin-producing carcinoma is a recently recognized adenocarcinoma with distinctive features. It was first described in the cervix but similar tumors have since been reported in the penis, anus and prostate. In the gastrointestinal tract, the phenomenon of epithelial stratification has an interesting embryologic morphogenesis. Gastrointestinal mucosa starts off as nascent columnar epithelium that is subsequently patterned to confer regional specific functions. However, in disease states, normal architectural patterning can be disrupted by aberrant differentiation. Given this background and the phenotypic plasticity of neoplastic cells, we were interested in ascertaining whether invasive stratified mucin-producing carcinoma occurs in the colorectum.

METHODS

This was a retrospective study of all 584 cases of colorectal carcinoma accessioned at our institution over a 2-year period (January 2021- December 2022). Cases were analyzed to determine which fulfilled the criteria for invasive stratified mucin-producing carcinoma.

RESULTS

There were 9 cases of colorectal invasive stratified mucin-producing carcinoma-one pure form and 8 mixed. They showed the classic colorectal (CK20 + , CDX2 + , CK7-) immunostaining profile but, based on various morphologic criteria, they could be distinguished from conventional adenocarcinoma NOS, mucinous, signet ring cell, medullary, goblet cell and undifferentiated carcinomas. About half the cases were MLH1/PMS2 deficient and BRAF &/or PIK3CA mutated, which aligns with the hypermutated phenotype.

CONCLUSIONS

Colorectal invasive stratified mucin-producing carcinoma appears to be a real entity, best recognized in its early stages. It appears to be a high-grade carcinoma. With tumor progression, it evolves into a mucinous adenocarcinoma with a proclivity towards signet ring cells. In summary, the study of this tumor, particularly in its early stages, provides useful clues to further understanding the biology and progression of large bowel cancer. Further studies are required to learn more about this tumor.

摘要

背景

侵袭性分层黏液性癌是一种最近被认识的具有独特特征的腺癌。它最初在宫颈中被描述,但此后在阴茎、肛门和前列腺中也报告了类似的肿瘤。在胃肠道中,上皮分层的现象具有有趣的胚胎形态发生。胃肠道黏膜最初是新生的柱状上皮,随后被模式化以赋予区域特定的功能。然而,在疾病状态下,正常的结构模式可能会被异常分化所破坏。鉴于此背景和肿瘤细胞的表型可塑性,我们有兴趣确定侵袭性分层黏液性癌是否发生在结直肠。

方法

这是一项对我们机构在 2 年内(2021 年 1 月至 2022 年 12 月)收录的所有 584 例结直肠癌病例的回顾性研究。对病例进行分析,以确定哪些病例符合侵袭性分层黏液性癌的标准。

结果

有 9 例结直肠侵袭性分层黏液性癌,其中 1 例为纯型,8 例为混合型。它们表现出经典的结直肠(CK20+,CDX2+,CK7-)免疫表型,但根据各种形态学标准,它们可以与常规腺癌 NOS、黏液性、印戒细胞、髓样、杯状细胞和未分化癌区分开来。大约一半的病例 MLH1/PMS2 缺陷,BRAF 和/或 PIK3CA 突变,这与高度突变表型一致。

结论

结直肠侵袭性分层黏液性癌似乎是一种真实的实体,在早期阶段最容易识别。它似乎是一种高级别癌。随着肿瘤的进展,它演变成一种黏液性腺癌,具有向印戒细胞的倾向。总之,对这种肿瘤的研究,特别是在早期阶段,为进一步了解大肠癌的生物学和进展提供了有用的线索。需要进一步的研究来了解更多关于这种肿瘤的信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/285f/10585790/af3d3c56c031/13000_2023_1396_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/285f/10585790/44961a20661a/13000_2023_1396_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/285f/10585790/6bc7cf80e4dc/13000_2023_1396_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/285f/10585790/a1c99fdf93d3/13000_2023_1396_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/285f/10585790/af3d3c56c031/13000_2023_1396_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/285f/10585790/44961a20661a/13000_2023_1396_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/285f/10585790/6bc7cf80e4dc/13000_2023_1396_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/285f/10585790/a1c99fdf93d3/13000_2023_1396_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/285f/10585790/af3d3c56c031/13000_2023_1396_Fig4_HTML.jpg

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本文引用的文献

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Invasive Stratified Mucin-producing Carcinoma (ISMC) of the Cervix: A Study on Morphologic Diversity.宫颈浸润性黏液性癌(ISMC):形态多样性研究。
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