# Case report: Highly response to low-dose brachytherapy in recurrent retroperitoneal leiomyosarcoma with FANCD2 frameshift mutation: a unique case study

**Authors:** Xiao li Liu, Jinxin Zhao, Xue min Di, Guohui Cao, Hongtao Zhang, Juan Wang

PMC · DOI: 10.3389/fonc.2024.1339955 · Frontiers in Oncology · 2024-04-03

## TL;DR

A man with a rare muscle tumor responded strongly to low-dose radiation therapy, possibly due to a specific genetic mutation.

## Contribution

This case study highlights a unique response to low-dose brachytherapy in a patient with a FANCD2 mutation in leiomyosarcoma.

## Key findings

- The patient showed a rapid and robust clinical response to low-dose iodine-125 brachytherapy.
- A FANCD2 frameshift mutation was identified in the tumor tissue through gene sequencing.

## Abstract

We report a case of recurrent retroperitoneal leiomyosarcoma in a male who achieved a rapid and robust but transient clinical response to low-dose iodine-125 brachytherapy. A FANCD2 frameshift mutation was detected by gene sequencing in the cancerous tissue.

## Linked entities

- **Genes:** FANCD2 (FA complementation group D2) [NCBI Gene 2177]
- **Diseases:** leiomyosarcoma (MONDO:0005058)

## Full-text entities

- **Genes:** FANCD2 (FA complementation group D2) [NCBI Gene 2177] {aka FA-D2, FA4, FACD, FAD, FAD2, FANCD}
- **Diseases:** cancerous (MESH:D009369), retroperitoneal leiomyosarcoma (MESH:D007890)
- **Chemicals:** iodine-125 (MESH:C000614960)

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11021697/full.md

## References

26 references — full list in the complete paper: https://tomesphere.com/paper/PMC11021697/full.md

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Source: https://tomesphere.com/paper/PMC11021697