# Surgical and irradiated case of early breast cancer in a patient with Ehlers–Danlos syndrome

**Authors:** Asumi Yamazaki, Hiroshi Tada, Yuki Muroyama, Yuto Yamazaki, Minoru Miyashita, Narumi Harada-Shoji, Yohei Hamanaka, Akiko Ebata, Miku Sato, Tokiwa Motonari, Mika Yanagaki, Tomomi Kon, Aru Sakamoto, Takashi Suzuki, Takanori Ishida

PMC · DOI: 10.1186/s40792-024-01997-5 · Surgical Case Reports · 2024-08-23

## TL;DR

A rare case of breast cancer in a patient with vascular Ehlers–Danlos syndrome is reported, with successful treatment involving surgery, radiation, and hormone therapy.

## Contribution

This is the first reported case of breast cancer in a patient with vascular Ehlers–Danlos syndrome, providing clinical insights into managing such a rare condition.

## Key findings

- The patient underwent partial mastectomy and lymph node biopsy with no major complications.
- Postoperative radiation and hormone therapy were safely administered without wound healing issues.
- The patient remained free of metastatic recurrence for 9 months following treatment.

## Abstract

Ehlers–Danlos syndrome (EDS) is a rare inherited connective tissue disease characterized by hyperextensibility of the skin and joints and tissue fragility of the skin and blood vessels, Vascular EDS is the most severe form of EDS, with abnormal arterial fragility. There have been no reports of breast cancer occurring in patients with vascular EDS. Here, we report here a very rare case of breast cancer in a patient with vascular EDS.

A 46-year-old woman with vascular EDS underwent partial left mastectomy and sentinel lymph node biopsy for left breast cancer (cStage 0) detected by medical examination. The final pathological diagnosis was invasive ductal carcinoma of the breast (pStage IA) [hormone receptor-positive, HER2 score 2 equivocal (FISH-positive), Ki-67LI 18%, luminal-HER2 type]. BluePrint was submitted as an aid in determining the postoperative treatment strategy, BluePrint Molecular Subtype HER2-type. However, the 10-year breast cancer mortality risk using Predict was low (5%). After consultation with the patient, the decision was made to administer postoperative radiation to the preserved breast along with hormone therapy only. There was no delay in postoperative wound healing, and the patient was free of metastatic recurrence for 9 months after surgery.

We performed surgery, postoperative radiotherapy, and hormonal therapy in a breast cancer patient with vascular EDS without major complications.

The online version contains supplementary material available at 10.1186/s40792-024-01997-5.

## Linked entities

- **Diseases:** Ehlers–Danlos syndrome (MONDO:0020066), Vascular EDS (MONDO:0017314), breast cancer (MONDO:0004989)

## Full-text entities

- **Genes:** ERBB2 (erb-b2 receptor tyrosine kinase 2) [NCBI Gene 2064] {aka CD340, HER-2, HER-2/neu, HER2, MLN 19, MLN-19}, NR4A1 (nuclear receptor subfamily 4 group A member 1) [NCBI Gene 3164] {aka GFRP1, HMR, N10, NAK-1, NGFIB, NP10}
- **Diseases:** invasive ductal carcinoma of the breast (MESH:D018270), metastatic recurrence (MESH:D000092182), breast cancer (MESH:D001943), inherited connective tissue disease (MESH:D003240), pStage IA (MESH:C536041), Vascular EDS (MESH:D000094623), arterial fragility (MESH:D005600), EDS (MESH:D004535)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

6 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11343928/full.md

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Source: https://tomesphere.com/paper/PMC11343928