Epithelioid Trophoblastic Tumour: A Case with Genetic Linkage to a Child Born over Seventeen Years Prior, Successfully Treated with Surgery and Pembrolizumab

David Pisani, Jean Calleja-Agius, Riccardo Di Fiore, John J O'Leary, James P Beirne, Sharon A O'Toole, Ana Felix, Ian Said-Huntingford

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)5346-5355
Number of pages10
JournalCurrent oncology (Toronto, Ont.)
Volume28
Issue number6
DOIs
Publication statusPublished - 13 Dec 2021

Keywords

  • Epithelioid trophoblastic tumour
  • Gestational trophoblastic tumour
  • Rare gynaecological tumour

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