Balkan Journal of Medical Genetics

HIGH RISK OF GESTATIONAL TROPHOBLASTIC NEOPLASIA DEVELOPMENT IN RECURRENT HYDATIDIFORM MOLES WITH NLRP7 PATHOGENIC VARIATIONS
Kocabey M.1,a, Gulhan I.2, Koc A.1,b, Cankaya T.1, Karatasli V.2, Ileri A.3
*Corresponding Author: MD Mehmet Kocabey, Address: Güzelburc District Kıbrıs Street No: 81, 31175 Antioch/Hatay, e-mail: mehmet_kocabey@hotmail.com
page: 45

INTRODUCTION

Gestational trophoblastic disease is defined as the spectrum of aberrant cellular expansions originated from the placental villous trophoblast. Main forms of gestational trophoblastic disease include benign hydatidiform moles (HM) and four malignant gestational trophoblastic neoplasias (GTN), i.e. invasive mole, choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumors [1]. The incidence varies but the highest incidences are recorded in some regions of Asia. In Turkey, the average HM incidence is 1.87 per 1,000 deliveries and incidence for GTNs are around 0.38 per 1,000 deliveries [2, 3]. At the histopathological level, hydatidiform mole is classified as complete hydatidiform mole (CHM) or partial hydatidiform mole (PHM). CHMs are generally of diploid androgenetic origin and have a 15% risk of GTN, while PHMs are mostly of triploid dispermic origin with a lesser 5% risk. Early diagnosis and follow-up is crucial due to the risk of malignancy. Sporadic and recurrent cases are reported [4]. The presence of two or more molar pregnancies in the same case is defined as recurrent hydatidiform mole (RHM). A subgroup of RHMs are familial (FRHM), where an autosomal recessive genetic defect causes molar development in a diploid embryo with maternal and paternal genetic contribution, i.e., biparental mole (BiCHM). FRHMs are mostly BiCHMs, in contrast to androgenetic CHMs [5]. BiCHMs are caused by homozygous pathogenic variations in the maternal genotype and the paternal genotype is not involved in pathogenesis [6]. The two most frequently involved maternal gene loci are NLRP7 and KHDC3L, causing 75-80% and 5-10% of FRHM cases, respectively [5]. These syndromes are termed HYDM1 (OMIM#231090) when caused by mutations in the NLRP7 gene and HYDM2 (OMIM#614293) when caused by mutations in the KHDC3L gene [7]. For cases with FRHM, in vitro fertilization with oocyte donation may be offered, but even then, HM and subsequent failure of achieving normal pregnancy may occur [6]. In this report, we present three cases of recurrent hydatidiform mole and their genetic analysis results. All three patients were treated with single agent chemotherapy due to the development of GTN after evacuation of the retained products of conception. We discussed potential implications in light of the current literature.

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