妊娠滋养细胞疾病:完全性水滴形痣与部分性水滴形痣。

IF 2.9 Q2 MEDICINE, RESEARCH & EXPERIMENTAL Diseases (Basel, Switzerland) Pub Date : 2024-07-17 DOI:10.3390/diseases12070159
Jeffrey Gonzalez, Meagan Popp, Stephanie Ocejo, Alvaro Abreu, Hisham F Bahmad, Robert Poppiti
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引用次数: 0

摘要

水瘤(包括完全水瘤和部分水瘤)是妊娠滋养细胞疾病的一个分支,其特点是受精异常导致绒毛水肿和滋养细胞增生,伴有或不伴有胚胎发育。这涉及染色体异常,即一个或两个精子使一个空卵母细胞受精(完全水样痣(CHM);多为 46,XX),或两个精子使一个卵母细胞受精(部分水样痣(PHM);多为 69,XXY)。值得注意的是,反复发生与母体效应基因的异常基因组印记有关,如 NLRP7(染色体 19q13.4)和 KHDC3L(染色体 6q1)。目前正在努力改进鉴定方法,从而鉴定出生长特异性标记物,包括 p57(细胞周期蛋白依赖性激酶抑制剂 1C;CDKN1C),它在 PHMs 的绒毛细胞滋养层细胞和绒毛基质细胞中显示完整的核表达,而在 CHMs 中则失去表达。水滴形痣的治疗包括扩张和刮宫术,以排出子宫内的畸形妊娠,然后监测人绒毛膜促性腺激素(HCG)水平,以确认疾病得到缓解并排除任何妊娠滋养细胞肿瘤的发生。在这篇综述中,我们简要介绍了有关水滴状痣、其诊断、组织病理学特征和处理的现有文献。
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Gestational Trophoblastic Disease: Complete versus Partial Hydatidiform Moles.

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 NLRP7 (chromosome 19q13.4) and KHDC3L (chromosome 6q1). Ongoing efforts to enhance identification methods have led to the identification of growth-specific markers, including p57 (cyclin-dependent kinase inhibitor 1C; CDKN1C), 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.

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