结肠未分化癌2例并肠梗阻临床解剖病理分析_武蕾洁.pdf

解剖学研究2023年第45卷第1期Anat Res,2023,Vol.45,No.1论著【摘要】目的探讨结肠未分化癌（UC）的临床解剖病理学特征。方法回顾性分析华侨大学附属厦门长庚医院 20202021 年确诊的 2 例结肠未分化癌的临床解剖病理学特征及免疫表型等，并复习相关文献。结果2例患者均为男性，病例1和2分别为27岁和69岁。临床症状均为腹痛腹胀明显伴症状加重来诊，CT均显示肿物伴有肠梗阻。肿物分别位于右半结肠及横结肠，肉眼观均为浸润溃疡型，界不清，最大径6.67.5 cm。镜下肿瘤形态均复杂多样，呈梁索状、实性巢团状、弥漫片状，瘤细胞呈梭形、圆形、多核单核瘤巨细胞样，核仁明显，见坏死及较多核分裂像，腺样结构不明显。免疫表型：肿瘤细胞 CKp、CDX2阳性，P53部分阳性，CD117、Dog1 小灶阳性，Vimentin、CD45、MyoD1、CD56、CgA、Syn、CK20、P40、AFP 阴性，Ki67 为85%90%阳性。病例1：MLH1阳性，PMS2阳性，MSH2阳性，MSH6阳性，提示错配修复蛋白完整（PMMR），微卫星稳定型（MSS）或低水平微卫星不稳定型（MSIL）；病例2：MLH1阴性，PMS2阴性，MSH2阳性，MSH6阳性，提示错配修复蛋白缺失（dMMR），高水平微卫星不稳定型（MSIH）。结论结肠未分化癌较少见，其病理组织学形态复杂多样，属于排除性诊断，尤其在肠镜活检或穿刺小标本中，极易发生漏诊和误诊，以至于对病人的后续治疗用药及预后发生巨大影响。为避免以上情况，临床病理诊断中需结合免疫组化检查排除腺癌、鳞癌、神经内分泌癌、淋巴瘤、恶性间皮瘤及间质瘤等，必要时需进一步加做基因检测，做到精准诊断。【关键词】结肠；未分化癌；病理解剖；免疫表型DOI：10.20021/ki.16710770.2023.01.13Clinical anatomy and pathology analysis of 2 cases of colon undifferentiated carcinoma complicated with intestinal obstructionWU Leijie1，CAI Song21Department of Pathology，Xiamen Changgung Hospital Affiliated to Huaqiao University，Xiamen，Fujian Province，361000，China；2Department of Human Anatomy and Histoembryology，Medical Department of Shenzhen University，Shenzhen，Guangdong Province 518000，ChinaCorresponding author：CAI Song，Email：【Abstract】ObjectiveThe article is intendeding to investigate the clinical anatomic and pathological characteristics of colon undifferentiated carcinoma（UC）.MethodsTwo cases of colon UC in Xiamen Changgung Hospital Affiliated to Huaqiao University，were retrospectively analyzed in 20202021.The clinical anatomic and pathological features、immunohistochemical phenotype and related literatures were reviewed.ResultsBoth patients weremale，patient 1 was 27 years old，patient 2 was 69 years old.The clinical symptoms were abdominal pain，distension and increased steadily.CT showed intestinal obstruction of both patients.The tumour were located in ileocecaljunction and transverse colon respectively.Gross observation，all of the tumours were infiltrating ulcerative type withunclear boundary.The maximum diameter of them were 6.67.5 cm.Their microscopic morphology were complex anddiverse.All of them showed the shape of beamed，nest clumps and diffused.The tumour cells were spindle，round，multinucleated or mononuclear giant cells like，with obvious nucleoli，necrosis and more mitosis.But the adenoidstructure was not obvious.Immunophenotype：tumor cells were positive for CKp and CDX2.Partially positive forP53.Focal positive for CD117 and dog1.Negative for Vimentin，CD45，MyoD1，CD56，CgA，Syn，CK20，P40，AFP.Positive for Ki67 about 85%90%.In addition，Case 1 was positive for MLH1，PMS2，MSH2 and MSH6，suggesting that mismatched repair protein perfect（pMMR），and may be microsatellite stable（MSS）or low level microsatellite instability（MSIL）.Case 2 was negative for MLH1 and PMS2，positive for MSH2 and MSH6，Suggesting结肠未分化癌2例并肠梗阻临床解剖病理分析武蕾洁1，蔡松21华侨大学附属厦门长庚医院病理科，福建 厦门361000；2深圳大学医学部人体解剖与组织胚胎学教研室，广东 深圳518000通讯作者：蔡松，Email：70解剖学研究2023年第45卷第1期Anat Res,2023,Vol.45,No.1that mismatch repair protein deletion（dMMR），may be high level microsatellite instability（MSIH）.ConclusionUndifferentiated carcinoma of the colon is rare and its morphology is complex and diverse.It is an exclusionary diagnosis.In order to avoid missed diagnosis and misdiagnosis especially in small specimens of colonoscopy biopsy or puncture，we need to exclude adenocarcinoma，squamous cell carcinoma，neuroendocrine carcinoma，malignant mesothelioma and stromal tumor by immunohistochemical examination.Meanwhile，the genetic testing is required if necessary.We should achieve an accurate diagnosis to promote the followup treatment and prognosis of patients.【Key words】Colon；Undifferentiated carcinoma；Anatomical pathology；Immunophenotype在 2019 最新版 WHO 消化系统肿瘤分类中，结直肠恶性上皮性肿瘤分为腺癌、腺鳞癌、未分化癌、神经内分泌癌。其中腺癌分为腺癌NOS、锯齿状腺癌、腺瘤样腺癌、微乳头状腺癌、粘液腺癌、低粘附性癌、印戒细胞癌、髓样腺癌。神经内分泌癌分为NOS、大细胞、小细胞、混合性神经内分泌非神经内分泌肿瘤。未分化癌分为未分化癌 NOS、伴肉瘤样成分的癌12。未分化癌可发生于胃、食管、结直肠、甲状腺、胰腺、胆囊、卵巢及宫颈等全身各个部位，但均较少见。近十年来，国内外报道结直肠及小肠未分化癌，绝大部分以病例报道为主310。本文回顾性分析20202021年我院2例结肠未分化癌（Undifferentiated carcinoma，UC）临床解剖病理学特征、免疫表型、基因检测、诊断及鉴别诊断等，以帮助大家对肠道未分化癌有更进一步的了解。1材料与方法1.1一般资料收集 20202021 年华侨大学附属厦门长庚医院病理科存档的手术切除并经病理确诊的结肠未分化癌 2 例。其中病例 1 经福建省立医院病理科陈小岩教授会诊确诊，病例2经本病理科内5名主治医师及高级职称医师按 WHO（2019）结直肠肿瘤分类标准讨论确诊。以上病例的收集已征得患者同意并通过本院伦理委员会的批准。1.2方法标本均在10%福尔马林中固定、常规性脱水、石蜡包埋、切片厚约 5 m，经苏木精伊红（HE）染色染色，免疫组化染色，然后送给病理科医师诊断。免疫组化染色机为罗氏自动免疫染色机，所用抗体 CKp、Vimentin、CD45、Ki67、P53、MyoD1、CD56、CgA、Syn、CK20、CKL、CDX2、MLH1、PMS2、MSH2、MSH6、P40 和 AFP。特殊染色有 PAS+D 和Alcian Blue（2.5）。其试剂盒均购买自福建福州迈新公司，均严格按照试剂盒步骤进行，并且每张免疫组化切片均配有阳性对照标本。另所用对照标本均为本病理科严格挑选并试验完成。2结果2.1临床特征病例 1患者男性，1993 年 7 月出生，主诉腹部不适一月，加重伴腹胀一周，就诊外院（具体不详），胃镜考虑慢性胃炎，口服中药及点滴治疗，未见好转，并出现腹胀伴恶心、呕吐、稀便及体重减轻 5.0 kg，就诊我院。2020 年 11 月 16 日，我院消化内镜所见升结肠近端，肠腔畸形狭窄，结肠镜无法通过，呈结节样改变，边缘欠规则，考虑进展期升结肠癌。2020 年 11 月 18 日腹部 PET/CT 示：末端回肠及升结肠近端团状软组织肿块影，横断位大小约 5.3 cm4.4 cm，其内 FDG 摄取明显增高，SUVmax32.8，相应肠管明显狭窄，近端小肠积液，轻度扩张，病灶周围见数枚大小不一高代谢团状影，最 大 者 大 小 约 4.1 cm 3.9 cm，其 内 SUVmax13.72，另右侧盆壁、肠系膜根部、腹膜后、右侧肾周前间隙内见多发团状高代谢结节影，较大者约 2.9 cm2.3 cm，SUVmax13.93。考虑 MT 伴近端小肠梗阻，病灶周边、右侧盆壁、腹膜后、腹腔多发淋巴结转移，右侧肾周前间隙种植转移，影像分期T