Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Am J Surg Pathol. 2013 Aug;37(8):1229-35. doi: 10.1097/PAS.0b013e31828f9ecb.
The tissue derivation of mucinous ovarian carcinoma remains a mystery; however, rare tumors are associated with mature teratoma. Two decades ago, studies of chromosomal heteromorphisms and DNA polymorphisms proved that ovarian teratomas arise during female gametogenesis. We sought to exploit the relationship between mucinous carcinoma and associated teratoma to provide molecular evidence for tissue of origin. Seventeen cases of mucinous ovarian carcinoma were studied, 6 of which had associated mature teratoma. DNA was extracted from the mucinous carcinoma, teratoma, and normal dissected tissue from formalin-fixed, paraffin-embedded sections. Twelve polymorphic microsatellite markers were used to allelotype each sample. Alleles from the teratomas and carcinomas were scored as homozygous (1 allele present in the tumor when normal tissue was heterozygous), heterozygous (2 alleles present matching normal tissue), or noninformative (normal tissue was homozygous). Of the 6 carcinoma/teratoma pairs, 2 showed complete matching homozygosity for informative markers (isodisomy), whereas 2 showed matching heterozygosity. One case did not have the corresponding teratoma available for comparison but demonstrated complete homozygosity and was presumed to be isodisomic. The remaining case had a teratoma homozygous for 7 of 10 informative markers, whereas the matching carcinoma was homozygous for only 2 of these markers. Carcinomas without associated teratoma demonstrated variable zygosity. Microsatellite polymorphism analysis demonstrates that mucinous ovarian carcinomas usually clonally match associated teratomas when present and often show evidence of complete isodisomy, indicating that at least some mucinous carcinomas arise from female gametes and thus are of germ cell origin. The zygosity patterns in mucinous carcinomas without teratoma suggest that these tumors may arise through a different mechanism.
黏液性卵巢癌的组织来源仍然是一个谜；然而，罕见的肿瘤与成熟的畸胎瘤有关。二十年前，对染色体异态性和 DNA 多态性的研究证明，卵巢畸胎瘤发生在女性配子发生过程中。我们试图利用黏液性癌与相关畸胎瘤之间的关系，为组织起源提供分子证据。研究了 17 例黏液性卵巢癌，其中 6 例有相关的成熟畸胎瘤。从福尔马林固定石蜡包埋切片中分离出黏液性癌、畸胎瘤和正常组织的 DNA。使用 12 个多态性微卫星标记对每个样本进行等位基因分型。将畸胎瘤和癌的等位基因评分归类为纯合子（当正常组织为杂合子时，肿瘤中存在 1 个等位基因）、杂合子（存在与正常组织匹配的 2 个等位基因）或非信息性（正常组织为纯合子）。在 6 对癌/畸胎瘤中，有 2 对在信息标记上显示完全匹配的纯合子（同二倍体），而有 2 对显示匹配的杂合子。有 1 例没有相应的畸胎瘤可供比较，但表现出完全的纯合子，被认为是同二倍体。其余的病例有一个畸胎瘤，10 个信息标记中有 7 个是纯合子，而相应的癌只有 2 个标记是纯合子。没有相关畸胎瘤的癌表现出不同的杂合子状态。微卫星多态性分析表明，当存在时，黏液性卵巢癌通常与相关的畸胎瘤克隆匹配，并且经常表现出完全同二倍体的证据，这表明至少一些黏液性癌起源于女性配子，因此是生殖细胞起源。没有畸胎瘤的黏液性癌的杂合子状态表明这些肿瘤可能通过不同的机制产生。
