Gonzalez Jeffrey, Popp Meagan, Ocejo Stephanie, Abreu Alvaro, Bahmad Hisham F, Poppiti Robert
Herbert Wertheim College of Medicine, Florida International University, Miami, FL 33199, USA.
The Arkadi M. Rywlin M.D. Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USA.
Diseases. 2024 Jul 17;12(7):159. doi: 10.3390/diseases12070159.
Hydatidiform moles, including both complete and partial moles, constitute a subset of gestational trophoblastic diseases characterized by abnormal fertilization resulting in villous hydrops and trophoblastic hyperplasia with or without embryonic development. This involves chromosomal abnormalities, where one or two sperms fertilize an empty oocyte (complete hydatidiform mole (CHM); mostly 46,XX) or two sperms fertilize one oocyte (partial hydatidiform mole (PHM); mostly 69,XXY). Notably, recurrent occurrences are associated with abnormal genomic imprinting of maternal effect genes such as (chromosome 19q13.4) and (chromosome 6q1). Ongoing efforts to enhance identification methods have led to the identification of growth-specific markers, including p57 (cyclin-dependent kinase inhibitor 1C; ), which shows intact nuclear expression in the villous cytotrophoblast and villous stromal cells in PHMs and loss of expression in CHMs. Treatment of hydatidiform moles includes dilation and curettage for uterine evacuation of the molar pregnancy followed by surveillance of human chorionic gonadotropin (HCG) levels to confirm disease resolution and rule out the development of any gestational trophoblastic neoplasia. In this review, we provide a synopsis of the existing literature on hydatidiform moles, their diagnosis, histopathologic features, and management.
葡萄胎,包括完全性葡萄胎和部分性葡萄胎,是妊娠滋养细胞疾病的一个子集,其特征是受精异常导致绒毛水肿和滋养细胞增生,伴或不伴胚胎发育。这涉及染色体异常,即一个或两个精子使空卵母细胞受精(完全性葡萄胎(CHM);大多为46,XX)或两个精子使一个卵母细胞受精(部分性葡萄胎(PHM);大多为69,XXY)。值得注意的是,复发性病例与母源效应基因如(染色体19q13.4)和(染色体6q1)的异常基因组印记有关。为加强识别方法所做的持续努力已导致识别出生长特异性标志物,包括p57(细胞周期蛋白依赖性激酶抑制剂1C;),其在部分性葡萄胎的绒毛细胞滋养层和绒毛间质细胞中显示完整的核表达,而在完全性葡萄胎中表达缺失。葡萄胎的治疗包括扩张刮宫术以清除子宫内的葡萄胎妊娠,随后监测人绒毛膜促性腺激素(HCG)水平以确认疾病缓解并排除任何妊娠滋养细胞肿瘤的发生。在本综述中,我们概述了关于葡萄胎、其诊断、组织病理学特征和管理的现有文献。