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Updated: May 28, 2026

Development of a Human Preclinical Model of Osteoclastogenesis from Peripheral Blood Monocytes Co-cultured with Breast Cancer Cell Lines
Published on: September 13, 2017
An osteogenesis imperfecta case with breast cancer
Fumi Taira1, Hideo Shimizu, Taijiro Kosaka
1Department of Breast Oncology, Juntendo University Hospital, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan, fmuraka@juntendo.ac.jp.
This report details a rare case of breast cancer in a patient with Osteogenesis Imperfecta (OI), a connective tissue disorder. The case highlights challenges in anesthesia and chemotherapy selection for OI patients with malignancies.
Area of Science:
- Oncology
- Genetics
- Connective Tissue Diseases
Background:
- Osteogenesis Imperfecta (OI) is a rare genetic disorder affecting type 1 collagen, leading to bone fragility and fractures.
- Malignancies, including breast cancer, have been infrequently reported in patients with OI.
- Management of cancer in OI patients presents unique challenges due to the underlying condition and potential drug toxicities.
Purpose of the Study:
- To report a case of breast cancer in a premenopausal woman with Osteogenesis Imperfecta.
- To discuss the management strategies, including surgical, chemotherapeutic, and anesthetic considerations.
- To highlight the rarity of this comorbidity and contribute to the limited literature.
Main Methods:
- Case presentation of a 36-year-old woman with OI diagnosed with stage IIIC breast cancer.
- Description of surgical intervention (mastectomy and axillary dissection) and adjuvant therapies (chemotherapy, radiotherapy, targeted therapy, hormone therapy).
- Assessment of anesthetic challenges and dihydropyrimidine dehydrogenase (DPD) activity for chemotherapy selection.
Main Results:
- The patient presented with locally advanced breast cancer (T2N3M0) with lymph node metastasis.
- Hormone therapy showed limited efficacy, necessitating mastectomy, chemotherapy (epirubicin and cyclophosphamide due to low DPD activity), radiotherapy, trastuzumab, and tamoxifen.
- Anesthesia was managed successfully through multidisciplinary collaboration; the patient exhibited low DPD activity, influencing chemotherapy choice.
Conclusions:
- This case underscores the importance of a multidisciplinary approach for managing breast cancer in OI patients.
- Careful consideration of anesthetic risks and potential 5-fluorouracil (5-FU) toxicity due to DPD deficiency is crucial.
- This represents the first reported case of breast cancer in an OI patient in Japan as of April 2011.
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