Trophoblastic Tumour Screening and Treatment Centre, Department of Oncology, Imperial College Healthcare NHS, UK.
Placenta. 2013 Jan;34(1):50-6. doi: 10.1016/j.placenta.2012.11.005. Epub 2012 Nov 29.
Molar pregnancies, characterized by hydropic change and trophoblast hyperplasia of chorionic villi, are usually sporadic. Second and third molar pregnancies can occur by chance but may be associated with a rare autosomal recessive condition, familial recurrent hydatidiform mole (FRHM). This condition, in which affected women have a predisposition to complete hydatidiform moles (CHM), is not usually diagnosed until women have experienced several CHM when a differential diagnosis is made by demonstrating the CHM are diploid and biparental (BiCHM) in contrast to sporadic CHM which are androgenetic (AnCHM). Our objective was to investigate whether these genetic differences might be reflected in identifiable phenotypic differences between BiCHM and AnCHM that could enable earlier diagnosis of FRHM.
Histopathological features were compared between 27 AnCHM from 17 individuals and 51 BiCHM from 20 families in whom a diagnosis of FRHM was confirmed by the presence of biallelic NLRP7 mutations or pathological variants.
A spectrum of morphological features was observed in BiCHM. As a group they show subtle, but consistent, histological differences from typical sporadic AnCHM, with less marked villous trophoblast hyperplasia, extravillous trophoblast fragments, stromal apoptotic debris, budding architecture, cisterns and trophoblastic inclusions. While there are some BiCHM that individually show atypical histological features, the majority are indistinguishable from typical sporadic AnCHM.
The majority of cases of FRHM cannot be distinguished from sporadic AnCHM on the basis of histopathological features alone. In a minority of cases CHM may demonstrate 'atypical' features that raise the possibility of underlying BiCHM requiring further investigation.
葡萄胎的特征是绒毛膜绒毛水肿和滋养细胞增生，通常是散发性的。第二和第三次葡萄胎可能是偶然发生的，但可能与一种罕见的常染色体隐性疾病——家族性复发性葡萄胎（FRHM）有关。在这种情况下，受影响的女性容易患上完全性葡萄胎（CHM），通常只有在女性经历了几次 CHM 后，通过证明 CHM 是二倍体和双亲性（BiCHM），与散发性 CHM 是雄激素性（AnCHM）不同，才能做出诊断。我们的目的是研究这些遗传差异是否可能反映在 BiCHM 和 AnCHM 之间可识别的表型差异中，从而能够更早地诊断 FRHM。
比较了 17 名个体的 27 例 AnCHM 和 20 个家族的 51 例 BiCHM 的组织病理学特征，这些家族通过存在双等位基因 NLRP7 突变或病理变异来确诊 FRHM。
在 BiCHM 中观察到一系列形态特征。作为一个群体，它们与典型的散发性 AnCHM 存在细微但一致的组织学差异，绒毛滋养细胞增生不明显，绒毛外滋养细胞碎片、基质凋亡碎片、芽状结构、池和滋养细胞包涵体较多。虽然有一些 BiCHM 个体表现出非典型的组织学特征，但大多数与典型的散发性 AnCHM 无法区分。
仅根据组织病理学特征，无法将大多数 FRHM 病例与散发性 AnCHM 区分开来。在少数情况下，CHM 可能表现出“非典型”特征，提示存在潜在的 BiCHM 需要进一步调查。
