Analysis of clonality in hepatocellular carcinoma

对女性X染色体失活模式的分析已被用于评估各种肿瘤的克隆性。我们分析了27例女性肝脏肿瘤，其中18例是在超声引导下细针活检获得的。应用传统的Southern杂交和/或聚合酶链式反应分析磷酸甘油酸激酶(PGK)基因的异质性，发现11/27例(41%)为该基因的杂合子。在这些有信息的11例肝肿瘤中，7例是“大”肿瘤(直径25 mm)，4例是“小”肿瘤(直径25 mm)。经PGK基因分析，7个“大”瘤均呈单克隆型。在4个“小”肿瘤中，两个呈单克隆性，另外两个呈多克隆性。两例均为单克隆型，尽管体积较小(20 mm和23 mm)，但病理诊断为肝细胞癌。其中1例(15 Mm)为良性腺瘤性增生，1例为大量淋巴细胞浸润性肝细胞癌。我们的研究表明，这种方法使我们能够分析像活检标本这样的小材料的克隆性，在某些病理结果不明确的情况下，它可能是有帮助的。

Analysis of X-chromosome inactivation patterns in females has been used to assess the clonality of various tumors. We analyzed 27 female liver tumors, including 18 samples obtained by ultrasonically guided thin-needle biopsies. By analysis of the heterogeneity of phosphoglycerate kinase(PGK)gene using conventional Southern blot hybridization and/or polymerase chain rection, 11/27 (41%) cases were found to be heterozygous at the gene. Of these informative 11 cases with liver tumors, 7 cases were "large" tumors (>25mm in diameter) and 4 cases were "small" tumors (>25mm in diameter). All the 7 "large" tumors showed monoclonal patterns by the PGK gene analysis. Of the 4 "small" tumors, two showed monoclonal and the other two showed polyclonal patterns. The two with monoclonal patterns were pathologically diagnosed as hepatocellular carcinoma despite their small sizes (20mm and 23mm). Of the two with polyclonal patterns, the smallest one (15mm) was diagnosed as benign adenomatous hyperplasia, and the other as hepatocellular carcinoma heavily infiltrated by lymphocytes. Our study has demonstrated that this method enables us to analyze the clonality of small materials like biopsy specimens and it may be helpful in certain cases in which the pathological findings are ambiguous.