# Pregnant patient with Xp11.2/transcription factor E3 translocation renal cell carcinoma: a case report and literature review

**Authors:** Yanchen Wang, Xiaoyan Guo, Zhe Meng, Yong Cui, Yaofei Sun

PMC · DOI: 10.3389/fonc.2024.1388880 · 2024-06-26

## TL;DR

A rare case of kidney cancer in a pregnant woman is reported, focusing on diagnosis and treatment during pregnancy.

## Contribution

This is a unique case report of Xp11.2 tRCC during pregnancy with simultaneous delivery and surgery.

## Key findings

- A pregnant patient successfully delivered and underwent radical surgery for Xp11.2 tRCC at 29 weeks.
- The case highlights the rarity and challenges of managing Xp11.2 tRCC during pregnancy.
- The study contributes to understanding diagnosis and treatment in pregnant patients with this rare cancer.

## Abstract

MiT family translocation renal cell carcinomas (tRCCs) primarily include Xp11.2/transcription factor E3 (TFE3) gene fusion-associated renal cell carcinoma (Xp11.2 tRCC) and t(6;11)/TFEB gene fusion-associated RCC. Clinical cases of these carcinomas are rare. Fluorescence in situ hybridization can be used to identify the type, but there are no standard diagnostic and treatment methods available, and the prognosis remains controversial. Herein, we present a case of a patient with Xp11.2 tRCC at 29 weeks of gestation. The baby was successfully delivered, and radical surgery was performed for renal cancer at the same time. This is a unique and extremely rare case. We have described the case and performed a literature review to report the progress of current research on the treatment and prognosis of pregnant patients with Xp11.2/TFE3 translocation renal cell carcinoma. This study aims to contribute to improving the diagnosis and treatment of Xp11.2 tRCC in pregnant patients.

## Linked entities

- **Genes:** TFE3 (transcription factor binding to IGHM enhancer 3) [NCBI Gene 7030], TFEB (transcription factor EB) [NCBI Gene 7942]
- **Diseases:** renal cell carcinoma (MONDO:0005086)

## Full-text entities

- **Genes:** TFEB (transcription factor EB) [NCBI Gene 7942] {aka ALPHATFEB, BHLHE35, TCFEB}, TFE3 (transcription factor binding to IGHM enhancer 3) [NCBI Gene 7030] {aka MRXSPF, RCCP2, RCCX1, TFEA, bHLHe33}
- **Diseases:** Xp11.2 (MESH:C564481), carcinomas (MESH:D009369), renal cancer (MESH:D007680), RCC (MESH:D002292), t (OMIM:613700)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC11233431/full.md

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Source: https://tomesphere.com/paper/PMC11233431