Gestational Trophoblastic Disease ECHO-Familial Biparental Hydatidiform Mole

Video Transcription

Video Summary

This session on recurrent hydatidiform moles featured two presentations: a detailed case review by Dr. Pei Hui and a genetics overview by Dr. Rima Slim. Dr. Hui presented a 30-year-old patient with a long history of miscarriages and prior diagnoses of partial mole and failed pregnancies. Despite repeat curettage, her hCG remained markedly elevated and imaging showed a 3.4 cm intrauterine mass plus small pulmonary nodules. Hysterectomy revealed an invasive molar lesion with hydropic villi, exuberant trophoblastic proliferation, and negative p57 staining, supporting a complete mole. However, short-tandem repeat genotyping showed a biparental profile rather than the expected androgenetic pattern, leading to the diagnosis of an invasive familial biparental complete mole. Next-generation sequencing identified a maternal NLRP7 mutation, explaining the recurrence. She was treated as low-risk GTN with single-agent dactinomycin and achieved normalization of hCG and radiologic resolution of lung nodules.<br /><br />Dr. Slim then reviewed the biology of recurrent moles, focusing on NLRP7 and other maternal-effect genes such as KHDC3L, PADI6, NLRP5, and additional meiosis-related genes. She explained that these mutations disrupt early embryonic development and imprinting, producing a spectrum of outcomes ranging from miscarriage to partial-like lesions and complete moles. She emphasized that recurrent mole phenotypes are variable and that some patients can achieve live birth through egg donation. The discussion highlighted the importance of combining histology, p57 immunohistochemistry, STR genotyping, and genetic testing for accurate diagnosis and counseling.

Keywords

recurrent hydatidiform mole

invasive mole

NLRP7 mutation

biparental complete mole

p57 immunostaining

STR genotyping

dactinomycin

gestational trophoblastic neoplasia

maternal-effect genes

egg donation