Author(s): Pisani, David ; Calleja-Agius, Jean ; Di Fiore, Riccardo ; O'Leary, John J ; Beirne, James P ; O'Toole, Sharon A ; Felix, Ana ; Said-Huntingford, Ian
Date: 2021
Persistent ID: http://hdl.handle.net/10362/131479
Origin: Repositório Institucional da UNL
Subject(s): Epithelioid trophoblastic tumour; Gestational trophoblastic tumour; Rare gynaecological tumour
Funding: This article is based upon work from COST Action CA18117—European network for Gynaecological Rare Cancer research: From Concept to Cure (GYNOCARE), supported by COST (European Cooperation in Science and Technology). COST (European Cooperation in Science and Technology) is a funding agency for research and innovation networks. Our Actions help connect research initiatives across Europe and enable scientists to grow their ideas by sharing them with their peers. This boosts their research, career and innovation. www.cost.eu (accessed on 25 October 2021).
Epithelioid trophoblastic tumours are rare neoplasms showing differentiation towards the chorion leave-type intermediate cytotrophoblast, with only a handful of cases being reported in the literature. These tumours are slow-growing and are typically confined to the uterus for extended periods of time. While the pathogenesis is unclear, they are thought to arise from a remnant intermediate trophoblast originating from prior normal pregnancies or, less frequently, gestational trophoblastic tumours. A protracted time period between the gestational event and tumour development is typical. This case describes a 49-year-old previously healthy female who presented with a completely asymptomatic uterine mass, discovered incidentally during a routine gynaecological assessment. The pathological analysis of the hysterectomy specimen confirmed an epithelioid trophoblastic tumour, involving the uterus and cervix. This is a rare gynaecological tumour. A comparative short tandem repeat analysis revealed genetic similarities to a previous healthy gestation seventeen years prior. She was successful treated with adjuvant pembrolizumab, with no evidence of disease recurrence to date.
