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

• Published in: Surgical case reports Vol. 10; no. 1; p. 195
• Main Authors: Yamazaki, Asumi, Tada, Hiroshi, Muroyama, Yuki, Yamazaki, Yuto, Miyashita, Minoru, Harada-Shoji, Narumi, Hamanaka, Yohei, Ebata, Akiko, Sato, Miku, Motonari, Tokiwa, Yanagaki, Mika, Kon, Tomomi, Sakamoto, Aru, Suzuki, Takashi, Ishida, Takanori
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 23.08.2024; Springer Nature B.V
• Subjects: Breast cancer; Cancer therapies; Case Report; Medicine; Medicine & Public Health; Surgery; Predict; Ehlers–Danlos syndrome; BluePrint; Breast cancer
• ISSN: 2198-7793; 2198-7793
• DOI: 10.1186/s40792-024-01997-5

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