Chuaqui R F, Zhuang Z, Emmert-Buck M R, Bryant B R, Nogales F, Tavassoli F A, Merino M J
Laboratory of Pathology, National Cancer Institute, Bethesda, MD 20892, USA.
Hum Pathol. 1996 Feb;27(2):165-71. doi: 10.1016/s0046-8177(96)90370-6.
The coexistence of mucinous ovarian and appendiceal tumors in association with pseudomyxoma peritonei (PP) is well established. However, it has not been determined whether they represent independent or metastatic neoplasms. The authors analyzed microsatellites on chromosome 17q 21.3-22 (nm23), 3p 25-26 (von Hippel Lindau disease [VHL] gene), and 5q 21-22 (D5S346 locus) in 12 synchronous ovarian and appendiceal mucinous lesions. Loss of heterozygosity (LOH) at the nm23 locus has been shown previously in ovarian carcinomas, and genetic alterations at both the 3p and 5q loci have been reported in colorectal carcinomas. The ovarian lesions consisted of nine mucinous tumors of low malignant potential and three invasive adenocarcinomas, and the appendiceal lesions consisted of eight carcinomas without invasion, two invasive carcinomas, and two mucosal hyperplasias. DNA was extracted from microdissected cells obtained from formalin-fixed, paraffin-embedded tissue sections and amplified by polymerase chain reaction. In three specimens, genetic alterations occurred at 17q 21.3-22 in only the ovarian tumors. One of these cases showed LOH on chromosome 5q 21-22 in only the appendiceal tumor. In three other specimens, LOH at the same locus was found in both tumors. Six specimens did not show LOH at any locus. These results suggest that a subset of synchronous mucinos ovarian and appendiceal lesions showing different LOH patterns in both sites most likely represent patients with two separate primary lesions. Another group of specimens with the same allelic loss in both tumors most likely represent patients with a single primary and metastatic spread. Thus, genetic analysis of these lesions may be useful in investigating the origin of histologically similar synchronous tumors.
卵巢黏液性肿瘤与阑尾肿瘤并存并伴有腹膜假黏液瘤（PP）已得到充分证实。然而，它们是代表独立肿瘤还是转移性肿瘤尚未确定。作者分析了12例同时发生的卵巢和阑尾黏液性病变中位于染色体17q 21.3 - 22（nm23）、3p 25 - 26（冯·希佩尔 - 林道病[VHL]基因）和5q 21 - 22（D5S346位点）的微卫星。先前已在卵巢癌中发现nm23位点的杂合性缺失（LOH），并且在结直肠癌中也报道了3p和5q位点的基因改变。卵巢病变包括9例低恶性潜能黏液性肿瘤和3例浸润性腺癌，阑尾病变包括8例无浸润性癌、2例浸润性癌和2例黏膜增生。从福尔马林固定、石蜡包埋组织切片中获取的显微切割细胞中提取DNA，并通过聚合酶链反应进行扩增。在3个标本中，仅卵巢肿瘤在17q 21.3 - 22发生基因改变。其中1例仅阑尾肿瘤在染色体5q 21 - 22显示LOH。在另外3个标本中，两个肿瘤在同一位点均发现LOH。6个标本在任何位点均未显示LOH。这些结果表明，一部分同时发生的卵巢和阑尾黏液性病变在两个部位呈现不同的LOH模式，很可能代表患有两种独立原发性病变的患者。另一组两个肿瘤具有相同等位基因缺失的标本很可能代表患有单一原发性肿瘤并伴有转移扩散的患者。因此，对这些病变进行基因分析可能有助于研究组织学相似的同时性肿瘤的起源。
