Report of two patients with variants in FOXL2 and KASH5 and review of gestational trophoblastic neoplasia after recurrent moles.

Authors

Ankur Saharan, Reda Hemida, Maude Lefebvre, Eric Bareke, Victoria Carile, Ebtesam Abdalla, Jacek Majewski, Rima Slim

Published in

Journal of assisted reproduction and genetics. Jul 26, 2026. Epub Jul 26, 2026.

Abstract

To elucidate possible genetic etiology in two patients with recurrent hydatidiform moles (RHM).
Whole exome sequencing was performed on two women presented with RHM. Exome data were filtered, and selected candidate variants were validated by Sanger sequencing. Additionally, we reviewed the literature for GTN rates in patients with RHM and compared them between different genetic etiologies.
Exome sequencing identified a heterozygous deleterious variant in FOXL2 p.(Gly187Asp), reported in patients with premature ovarian insufficiency (POI), and a very rare homozygous variant in KASH5 p.(Arg196His). The patient harboring the KASH5 variant experienced recurrent GTNs, and her sister who also had recurrent moles died of metastatic GTN.
This study describes the identification of variants in FOXL2 and KASH5 in two patients with RHM. Our findings further support the association of variants in these genes with RHM while highlighting the potential for severe, life-threatening progression to metastatic GTN. Reviewing GTN incidence per patient summarizes current data and their limitations that need to be taken into consideration when interpreting overall risk.

PMID:
42503564
Bibliographic data and abstract were imported from PubMed on 27 Jul 2026.

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