Schmidt D, Ulrich U
synlab MVZ Pathologie Mannheim GmbH, A2,2, 68159, Mannheim, Deutschland,
Pathologe. 2014 Jul;35(4):348-54. doi: 10.1007/s00292-014-1949-4.
Endometriosis is a frequent gynecological disease of unknown etiology and pathogenesis. It affects the gynecological organs and the peritoneum with varying frequency and can lead to severe symptoms, mainly pain and to infertility. Despite the fact that causal therapy is not feasible diagnostic and therapeutic procedures are necessary in many cases. In a small percentage of cases endometriosis is associated with neoplastic disease and in some cases it might develop into a neoplasm via the stage of atypical endometriosis, notably in the ovaries. Tumors which are most frequently associated with endometriosis are endometrioid carcinoma, clear cell carcinoma, and low grade serous carcinoma. According to some authors tumors associated with endometriosis have a better prognosis than those without. Other tumors are Mullerian adenosarcoma, endometrioid stromal sarcoma, and seromucinous borderline tumor. In addition to the morphological findings more recent molecular findings serve to demonstrate the origin of the different types of carcinoma from endometriosis. In both endometrioid and clear cell carcinoma, loss of heterozygosity (LOH) can be found in different gene loci. Mutations in CTNNB1 (beta catenin), PTEN, KRAS and ARID1a genes have been demonstrated in endometrioid carcinoma. Cases of clear cell carcinoma have been characterized by mutations of ARID1a gene, PIK3CA and less frequently PPP2R1A and KRAS.
子宫内膜异位症是一种病因和发病机制不明的常见妇科疾病。它以不同频率累及妇科器官和腹膜，并可导致严重症状，主要是疼痛和不孕。尽管病因治疗不可行，但在许多情况下诊断和治疗程序是必要的。在一小部分病例中，子宫内膜异位症与肿瘤性疾病相关，在某些情况下，它可能会通过非典型子宫内膜异位症阶段发展为肿瘤，尤其是在卵巢中。与子宫内膜异位症最常相关的肿瘤是子宫内膜样癌、透明细胞癌和低级别浆液性癌。根据一些作者的观点，与子宫内膜异位症相关的肿瘤比那些不相关的肿瘤预后更好。其他肿瘤是苗勒管腺肉瘤、子宫内膜样间质肉瘤和浆液黏液性交界性肿瘤。除了形态学发现外，最近的分子发现有助于证明不同类型的癌起源于子宫内膜异位症。在子宫内膜样癌和透明细胞癌中，在不同基因位点均可发现杂合性缺失（LOH）。在子宫内膜样癌中已证实CTNNB1（β-连环蛋白）、PTEN、KRAS和ARID1a基因存在突变。透明细胞癌病例的特征是ARID1a基因、PIK3CA突变，较少见的是PPP2R1A和KRAS突变。
