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Challenge in differential diagnosis of a liver mass histologically defined as a metastatic lesion from an occult primary intestinal tumour. The importance of clinical findings and the limitations of histology and molecular profiles. A case report

机译:在组织学上定义为隐匿性原发性肠肿瘤转移性病变的肝脏肿块的鉴别诊断中面临的挑战。临床发现的重要性以及组织学和分子谱的局限性。病例报告

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Differential diagnosis of liver lesion in the absence of proven primary tumor is still a challenge. We experienced a case of an asymptomatic 14 cm lesion of right hemiliver in a 67 year-old man submitted to right hepatectomy in December 2010. One year before the patient underwent to endoscopic removal of a tubular adenoma of the right colon. Preoperative diagnosis was supported by ultrasound, CT scan, PET and liver biopsy. The patient received 6 cycles of preoperative chemotherapy (FOLFOX) with down-staging of the lesion diameter. Immunohistochemistry on the surgical specimen showed positivity for cytokeratins 19 and 20, CEA, MUC-2, negativity for cytokeratin 7 and a-fetoprotein. Moreover, the neoplastic cells showed a focal positivity with lower intensity for MUC-1 and MUC-5AC. The immunohistochemical profile suggested the possibility of a metastatic tumour from the large bowel, without excluding a primitive mucinous cholangiocarcinoma with intestinal phenotype. At 6 months after intervention, the patient was submitted to chemotherapy (FOLFOX). At present he is in good condition, without radiological signs of recurrence. Oncologists must evaluate the possible benefits of further adjuvant treatments based on the differential diagnosis between a primitive or metastatic liver tumour. In conclusion, correct diagnosis of liver masses is mandatory and remains a challenge that can differentiate either follow-up or surgical and adjuvant treatment. Histology and immunohistochemistry must be related to clinical findings as they may not always be sufficient to reach a correct final diagnosis, and can even be confusing. At present, molecular biology cannot be considered a helpful for diagnosis in these cases.
机译:在没有经过证实的原发性肿瘤的情况下,肝病的鉴别诊断仍然是一个挑战。我们在2010年12月对一名67岁的男性进行了无症状的14厘米右半肝病变,该例患者接受了右肝切除术。一年后,患者接受了内镜下切除了右结肠的肾小管腺瘤。术前诊断得到超声,CT扫描,PET和肝活检的支持。该患者接受了6个周期的术前化疗(FOLFOX),并缩小了病灶直径。手术标本的免疫组织化学显示细胞角蛋白19和20,CEA,MUC-2呈阳性,细胞角蛋白7和α-甲胎蛋白呈阴性。而且,肿瘤细胞对MUC-1和MUC-5AC表现出较低的灶性阳性。免疫组织化学谱表明,有可能从大肠转移肿瘤,但不排除具有肠道表型的原始粘液性胆管癌。干预后6个月,患者接受了化疗(FOLFOX)。目前,他的状况良好,没有放射学复发迹象。肿瘤科医生必须根据原始或转移性肝肿瘤之间的鉴别诊断,评估进一步辅助治疗的可能益处。总而言之,正确诊断肝肿块是强制性的,并且仍然是可以区分随访还是外科和辅助治疗的挑战。组织学和免疫组织化学必须与临床发现相关,因为它们可能并不总是足以达到正确的最终诊断,甚至可能造成混淆。目前,在这些情况下分子生物学还不能被认为有助于诊断。

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