Progressive breast fibrosis caused by extreme radiosensitivity: Oncocytogenetic diagnosis and treatment by...

Fibrosis, a proliferative response of fibrocytes after tissue injury, is a common sequela of external radiotherapy and can vary greatly among patients even in the absence of DNA repair syndromes, due to their different intrinsic radiosensitivity. Fibrosis is also a serious cosmetic problem for patients, and in some cases it can also imply pain.

Here, we report a case of a severe fibrosis 2 years after breast conserving surgery and postoperative 3D conformal breast irradiation. Furthermore, our patient had the suspicion of tumour recurrence. Our examinations were aimed at diagnosing recurrence or the lack of recurrence and investigating whether the symptoms occurred due to overdosing or extreme intrinsic radiosensitivity. Therefore, examining the patients' radiosensitivity, a cytogenetic test was performed, which revealed the patient's increased susceptibility to ionizing radiation, and therefore we rejected the prospect of overdosage. As a solution for the fibrosis, mastectomy was effectuated, and a latissimus dorsi musculocutaneous flap was used for reconstruction.

We suggest a multi-disciplinary approach to manage fibrosis and propose cytogenetic markers to be used as predictors to identify patients who most likely benefit from a certain therapeutic regimen in terms of reduction of therapy-related side effects.