Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes

We report radiation necrosis as the first manifestation of a germline mutation in telomerase. A 60-year-old woman presented with defective wound healing after multiple surgical explorations of the chest wall to exclude breast cancer recurrence. At age 42, she received a diagnosis of stage I estrogen receptor–positive left breast infiltrating ductal carcinoma on routine mammography. Lumpectomy with axillary node dissection revealed T1N0 disease. Her adjuvant radiation therapy consisted of 50.4 Gy in 28 fractions followed by a 10-Gy boost in 5 fractions to the tumor bed. She did well for 12 years, when a left rib fracture was incidentally noted on imaging. This prompted multiple needle biopsies which showed atypia but no malignancy. Open surgical biopsy revealed the anterior ribs within the radiation field were replaced with soft tissue, but no malignancy was found. The postoperative course was complicated by multiple wound infections requiring surgical debridement and failed healing of skin grafts left her with an open chest wall wound (Fig. 1A).