Rare undifferentiated colonic adenocarcinoma: A diagnostic challenge

Q4 Medicine
Anup Jnawali , Karim Alavi , Tasneem Ali , Michelle Yang
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引用次数: 0

Abstract

Pathological diagnosis of colorectal adenocarcinoma is typically straightforward. However, undifferentiated colorectal cancers can be rarely encountered in daily practice and definitive diagnosis can be very challenging. In this report, we presented a rare case of ascending colon ulcerated mass from a 60-year old man. The mass showed lobulated solid growth pattern, pushing border, no desmoplasia, no glandular formation, no tumor budding, undifferentiated morphology with pleomorphism and multinucleated giant cells, numerous atypical mitosis (>100/5 mm2) and unusual immunophenotype as follows: pancytokeratin+, CK7−, CK20−, CDX2 focally+, SATB2−, DOG1+, CD138+, mucicarmine+. Molecular test showed classic mutations in APC, TP53, SMAD4 and HNF1A, and wild type in BRAF, KRAS and NRAS. Interestingly, KIT, ERBB4 and PIK3CA showed missense mutation, and PDGFRA showed nonsense mutation, although all of them had uncertain clinical significance. Final diagnosis of undifferentiated adenocarcinoma was rendered after combining the growth pattern, immunostains and mucicarmine stain, molecular test findings, and excluding other poorly differentiated malignancies.

罕见的未分化结肠腺癌:诊断挑战
结直肠腺癌的病理诊断通常是直截了当的。然而,在日常实践中很少遇到未分化的结直肠癌,明确的诊断非常具有挑战性。在此报告中,我们报告了一例罕见的60岁男性升结肠溃疡性肿块。肿块呈分叶状实体生长模式,挤压边界,无结缔组织增生,无腺体形成,无肿瘤出芽,形态未分化,多形性、多核巨细胞,大量非典型有丝分裂(>100/5 mm2),免疫表型异常:泛细胞角蛋白+,CK7−,CK20−,CDX2局灶性+,SATB2−,DOG1+, CD138+,粘胺+。分子检测显示APC、TP53、SMAD4和HNF1A的经典突变,BRAF、KRAS和NRAS的野生型。有趣的是,KIT、ERBB4和PIK3CA表现为错义突变,PDGFRA表现为无义突变,尽管它们的临床意义都不确定。结合生长模式、免疫染色、粘胺染色、分子检测结果,排除其他低分化恶性肿瘤后,最终诊断为未分化腺癌。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Human Pathology: Case Reports
Human Pathology: Case Reports Medicine-Pathology and Forensic Medicine
CiteScore
0.50
自引率
0.00%
发文量
0
审稿时长
16 weeks
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