Two Novel Variants in NLRP7 Gene in an Egyptian Female Patient with Consecutive Molar Pregnancies Complicated by Choriocarcinoma

Abstract

ABSTRACTBackgroundHydatidiform mole, whether complete or partial mole, is one of the most common forms of gestational trophoblastic disease. It is characterized by extreme trophoblastic proliferation and atypical embryonic growth. Though almost all of complete hydatidiform moles are diploid androgenetic, scarce cases are biparental and caused mainly by mutations inNLRP7andKHDC3Lgenes. NLRP7mutations are more common and were reported in around 50–80% of cases from diverse populations whileKHDC3mutations were only found in 5–10% of cases.Case descriptionA healthy 40-year-old Egyptian woman was referred to the Clinic of Prenatal Diagnosis and Fetal Medicine Department for counseling. She was married for 20 years to a first-degree relative and experienced 17 consecutive pregnancy losses without having any live births. Uterus ultrasound revealed endometrial thickening and subseptate uterus and in her last pregnancy failure, she complained of abdominal pain and severe shortness of breath. Immunochemistry tests were positive for β-human chorionic gonadotropin and histopathology-confirmed choriocarcinoma. Genetic testing revealed two novel heterozygous variants in theNLPR7gene.ConclusionWe presented a case with 17 recurrent hydatidiform moles that was complicated by choriocarcinoma due to novel variants in theNLRP7gene.Clinical significanceThis is the first Egyptian case with recurrent hydatidiform mole. We identified novelNLPR7variants, thus expanding the mutational spectrum associated with this rare disease.How to cite this articleShalabi TA, Abdel-Hamid MS, Shaker MM. Two Novel Variants inNLRP7Gene in an Egyptian Female Patient with Consecutive Molar Pregnancies Complicated by Choriocarcinoma. Int J Infertil Fetal Med 2019;10(3):54–57.