Scholarlink

Purpose <p>To elucidate possible genetic etiology in two patients with recurrent hydatidiform moles (RHM).</p> Methods <p>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.</p> Results <p>Exome sequencing identified a heterozygous deleterious variant in <i>FOXL2</i> p.(Gly187Asp), reported in patients with premature ovarian insufficiency (POI), and a very rare homozygous variant in <i>KASH5</i> p.(Arg196His). The patient harboring the <i>KASH5</i> variant experienced recurrent GTNs, and her sister who also had recurrent moles died of metastatic GTN.</p> Conclusions <p>This study describes the identification of variants in <i>FOXL2</i> and <i>KASH5</i> 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.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

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

  • 期刊论文

  • 发表日期：

    2026年7月26日

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

摘要

Purpose

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

Methods

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.

Results

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.

Conclusions

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.