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Biliary Adenofibroma of Liver: Morphology, Tumor Genetics, and Outcomes in 6 Cases.

6例肝脏的胆道腺纤维瘤形态学、肿瘤遗传学和预后

Arnason T,Borger DR,Corless C,Hagen C,Iafrate AJ,Makhlouf H,Misdraji J,Sapp H,Tsui WM,Wanless IR,Zuluaga Toro T,Lauwers GY

Abstract

Biliary adenofibroma is a rare primary hepatic neoplasm, recognized in the World Health Organization classification, although only 14 cases have been reported to date. This series includes extended follow-up from 2 of the early case reports and 4 novel cases. Clinical history and histology were reviewed in all 6 cases. Tumor DNA was analyzed for point mutations by multiplex polymerase chain reaction and copy number alterations by array comparative genomic hybridization. The patients included 4 females and 2 males presenting between 46 and 83 years of age, with tumors ranging from 7 to 16 cm in diameter. The tumors had similar morphology, with tubules and cysts lined mainly by bland to mildly atypical cuboidal epithelium embedded in fibrous stroma. Multiplex polymerase chain reaction did not identify mutations in 4 tumors tested. Three tumors tested by array comparative genomic hybridization showed chromosomal copy number alterations, including 1 with amplifications of CCND1 and ERBB2. Three patients underwent resection with no recurrence at 21, 20, and 3 years of follow-up. One patient is alive after 14 months with no resection. Two patients with margin-positive resections had local recurrence at 1 and 6 years after surgery. No patient had distant metastasis. The distinct morphology and multiple clonal cytogenetic alterations in biliary adenofibromas indicate that the lesions are neoplastic. Amplifications of CCND1 and ERBB2 are not typical of benign neoplasms, and suggest that these tumors may have the ability to behave aggressively. However, the clinical outcomes in these patients suggest the neoplasms are only slowly progressive.

摘要

胆道腺纤维瘤是一种罕见的原发于肝内的肿瘤,尽管迄今为止仅报道了14例,但已被WHO分类收录。本文6例病例中,包括此前报道的2例含预后信息病例、以及4例最新报道。我们对这6个病例均进行了临床病史和形态学的回顾性分析。对于肿瘤的DNA分析,我们采用了多重聚合酶链式反应检测点突变以及阵列比较基因组杂交检测拷贝数改变。6名患者中有4名女性,2名男性,年龄46岁-83岁,肿瘤直径7-16cm不等。这些病例形态学相似,纤维间质中见温和或轻度异型的立方上皮排列成管状和囊状结构。4名患者的肿瘤多重聚合酶链式反应未发现突变。3名患者的肿瘤阵列比较基因组杂交后显示染色体拷贝数改变,包括1号染色体的CCND1和ERBB2扩增。3名患者手术治疗后经过21年、20年以及3年的随访观察未发现复发。1名患者未行手术切除在14个月后仍存活。2名患者因为手术切缘阳性在术后第1年和第6年复发。所有患者都未发生远处转移。胆道腺纤维瘤明确的形态学和多克隆性细胞遗传学改变,表明病变是肿瘤性的。CCND1和ERBB2的扩增并不是良性肿瘤的典型特征,并且提示这些肿瘤可能具有侵袭性行为能力。然而,这些患者的临床预后显示肿瘤应该属于缓慢进展型。

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