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母源和父源三倍体中部分性葡萄胎表型的患病率。

Prevalence of the partial molar phenotype in triploidy of maternal and paternal origin.

作者信息

Redline R W, Hassold T, Zaragoza M V

机构信息

Department of Pathology, Case Western Reserve University and University Hospitals of Cleveland, OH 44106, USA.

出版信息

Hum Pathol. 1998 May;29(5):505-11. doi: 10.1016/s0046-8177(98)90067-3.

Abstract

Triploid partial moles are at risk for trophoblastic neoplasia, yet the prevalence, parent of origin, and evolution of the partial molar phenotype amongst all triploids remains controversial. We determined parental origin by polymerase chain reaction (PCR) analysis, stage of development by gross and histological criteria, and partial molar status according to strict diagnostic criteria for all triploids identified amongst 1,054 consecutively karyotyped spontaneous abortions. Triploidy was detected in 64 of 832 successfully karyotyped specimens. Complete data were collected in 59 cases. Diandric origin was found in 39 specimens, and 20 of these fulfilled all four criteria for partial mole (trophoblast hyperplasia, dimorphic population of large and small villi, villous hydrops greater than 0.5 mm, and irregular villous contour). We separated the 19 diandric triploids not fulfilling all criteria for partial mole into four groups: specimens of early developmental stage, which we believed represented developing ("early") partial moles (n = 3), cases of late developmental stage, which we believed represented involuting ("ancient") partial moles (n = 4), cases showing some but not all criteria for partial mole (n = 7), and specimens with few if any criteria suggestive of partial mole (n = 5). In triploids of digynic origin (n = 20), developmental stage was significantly lower, fetal tissue was more frequently identified, and all specimens showed well-preserved fetal red blood cells. Digynic triploids occasionally showed irregular contour, dimorphic villi, and a mild form of trophoblast hyperplasia but never showed hydropic degeneration and were never suspicious for partial mole.

摘要

三倍体部分性葡萄胎有发生滋养层细胞瘤变的风险,然而在所有三倍体中部分性葡萄胎表型的发生率、起源亲本及演变仍存在争议。我们通过聚合酶链反应(PCR)分析确定亲本起源,根据大体和组织学标准确定发育阶段,并依据严格的诊断标准对在1054例连续进行核型分析的自然流产中鉴定出的所有三倍体的部分性葡萄胎状态进行判定。在832例成功进行核型分析的标本中有64例检测出三倍体。59例收集到了完整数据。39个标本为二雄起源,其中20个符合部分性葡萄胎的全部四项标准(滋养层细胞增生、大小绒毛的双相群体、绒毛水肿大于0.5毫米以及不规则的绒毛轮廓)。我们将19个不符合部分性葡萄胎全部标准的二雄三倍体分为四组:处于早期发育阶段的标本,我们认为代表正在发育的(“早期”)部分性葡萄胎(n = 3);处于晚期发育阶段的病例,我们认为代表正在退化的(“陈旧性”)部分性葡萄胎(n = 4);显示部分但并非全部部分性葡萄胎标准的病例(n = 7);以及几乎没有提示部分性葡萄胎标准的标本(n = 5)。在二雌起源的三倍体(n = 20)中,发育阶段明显更低,更频繁地识别出胎儿组织,并且所有标本均显示胎儿红细胞保存良好。二雌三倍体偶尔显示不规则轮廓、双相绒毛以及轻度的滋养层细胞增生形式,但从未显示水肿变性,也从未怀疑为部分性葡萄胎。

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