Evidence map›Paper›PMID 42503564›Full record

ArticleJournal of assisted reproduction and genetics2026

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

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

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Article in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Ankur SaharanDepartment of Human Genetics, McGill University Health Centre, Montreal, Canada.
Reda HemidaDepartment of Obstetrics and Gynecology, Mansoura University, Al Mansurah, Egypt.
Maude LefebvreDepartment of Medicine, University of Montreal, Montreal, Canada.
Eric BarekeDepartment of Human Genetics, McGill University Health Centre, Montreal, Canada.
Victoria CarileDepartment of Human Genetics, McGill University Health Centre, Montreal, Canada.
Ebtesam AbdallaDepartment of Human Genetics, Alexandria University, Alexandria, Egypt.
Jacek MajewskiDepartment of Human Genetics, McGill University Health Centre, Montreal, Canada.
Rima SlimDepartment of Human Genetics, McGill University Health Centre, Montreal, Canada. rima.slim@muhc.mcgill.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo elucidate possible genetic etiology in two patients with recurrent hydatidiform moles (RHM).

methodsWhole 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.

resultsExome 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.

conclusionsThis 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.

Indexed as

Exome sequencingFOXL2Gestational trophoblastic neoplasiaHydatidiform moleKASH5Premature ovarian insufficiencyRecurrent hydatidiform moleReproductive genetics

Identifiers

PMID42503564

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