Wang Wei, Zhu Huiting, Wang Jigang, Wang Shuyang, Wang Diyi, Zhao Jingjing, Zhu Hongguang
Department of Pathology, Fudan University Shanghai Medical College, Shanghai 200030, China.
Department of Pathology, Shanghai First Maternity and Infant Hospital, Shanghai 200120, China.
Hum Pathol. 2016 Feb;48:88-94. doi: 10.1016/j.humpath.2015.09.032. Epub 2015 Oct 23.
Adenomatoid tumor is a relatively rare disease that predominantly involves male and female internal genital tracts. Although its clinical and pathologic features are well characterized, there is still controversy regarding its nature as a true neoplasm or a variant of mesothelial hyperplasia of a reactive nature. We sought to resolve this debate by investigating the clonality of uterine adenomatoid tumor from 13 female cases. The mesothelial cells and surrounding normal myometrium were precisely harvested using laser capture microdissection, and genomic DNA was extracted for clonal analysis by assessing the patterns of X-chromosome inactivation. Fluorescent polymerase chain reaction amplification of a highly polymorphic short tandem repeat of the human androgen receptor (HUMARA) gene with and without methylation-sensitive restriction endonuclease HpaII digestion was performed on DNA extracted from mesothelial cells, using normal myometrium and male blood sample as controls. Of the 13 cases successfully amplified, all 10 informative cases showed concordant nonrandom X-chromosome inactivation pattern consistent with monoclonality. In comparison, surrounding normal myometrium showed a polyclonal pattern of X-chromosome inactivation, and male blood sample failed to be amplified after HpaII treatment. Our results demonstrate that adenomatoid tumor is a monoclonal disease favoring a neoplastic process. This neoplastic rather than reactive nature probably accounts for its frequently observed infiltrative growth pattern and the occurrence of diffuse adenomatoid tumor, especially when host immunity is compromised. Additional studies with larger sample sizes will be needed to conclusively prove our conclusion.
腺瘤样瘤是一种相对罕见的疾病，主要累及男性和女性的内生殖道。尽管其临床和病理特征已得到充分描述，但关于它是真正的肿瘤还是反应性间皮增生的变体，仍存在争议。我们试图通过研究13例女性子宫腺瘤样瘤的克隆性来解决这一争论。使用激光捕获显微切割技术精确采集间皮细胞和周围正常子宫肌层，提取基因组DNA，通过评估X染色体失活模式进行克隆分析。以正常子宫肌层和男性血液样本为对照，对从间皮细胞中提取的DNA进行人雄激素受体（HUMARA）基因高度多态性短串联重复序列的荧光聚合酶链反应扩增，扩增时分别采用甲基化敏感限制性内切酶HpaII消化和不消化两种情况。在成功扩增的13例病例中，所有10例有信息价值的病例均显示出与单克隆性一致的非随机X染色体失活模式。相比之下，周围正常子宫肌层显示出多克隆性的X染色体失活模式，而男性血液样本经HpaII处理后未能扩增。我们的结果表明，腺瘤样瘤是一种倾向于肿瘤形成过程的单克隆性疾病。这种肿瘤性而非反应性的性质可能解释了其常见的浸润性生长模式以及弥漫性腺瘤样瘤的发生，尤其是在宿主免疫受损时。需要更多大样本量的研究来最终证实我们的结论。
