Severe uterine haemorrhagic complications from gestational trophoblastic neoplasia.

Objective: Gestational trophoblastic neoplasia are highly vascularized infiltrating lesions that can lead to severe haemorrhagic complications. The aim of this study was to describe the characteristics of patients with gestational trophoblastic neoplasia who experienced uterine haemorrhagic complications, and their management.

Study Design: This retrospective study analysed the histories of 2099 patients with gestational trophoblastic neoplasia registered at the French Reference Centre for Trophoblastic Disease between 1999 and 2023.

Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.

To identify novel genes responsible for recurrent hydatidiform moles (HMs), we performed exome sequencing on 75 unrelated patients who were negative for mutations in the known genes. We identified biallelic deleterious variants in 6 genes, FOXL2, MAJIN, KASH5, SYCP2, MEIOB, and HFM1, in patients with androgenetic HMs, including a familial case of 3 affected members. Five of these genes are essential for meiosis I, and their deficiencies lead to premature ovarian insufficiency.

Primary Vulvar and Vaginal Adenocarcinomas of Intestinal Type Are Closer To Colorectal Adenocarcinomas Than To Carcinomas of Müllerian Origin.

Primary vulvar and vaginal adenocarcinomas of intestinal type (VVAIts) are very rare tumors, displaying morphologic and immunohistochemical overlap with colorectal adenocarcinomas. However, their immunoprofile and genomics are poorly studied, and their origin is still debated. Here, we studied a series of 8 VVAIts (4 vulvar and 4 vaginal) using a large panel of immunohistochemistry and DNA and RNA sequencing with clustering analyses.