Bloom syndrome (BS) is an autosomal recessive genetic disorder. Patients with BS have a higher risk than healthy individuals of developing various malignant tumors. We report a case of BS presenting with squamous cell carcinoma of the mandibular gingiva. A 29-year-old, short-statured woman presented with a mass in the right mandibular gingiva. She had a medical history of diabetes, diabetic nephropathy, menstrual irregularities, and atrial septal defect. She was diagnosed with BS via genetic testing in infancy and has been followed up care at our pediatric department since the age of 9. A hard, well-defined, lateralized mass, measuring 10 mm vertically and 25 mm anteroposteriorly, was observed in the right mandibular gingiva. Additionally, an enlarged submandibular lymph node was palpable in the right cervical region. Although radiographic findings showed no distant systemic metastasis, a single positive right submandibular lymph node was identified. Following biopsy, the clinical diagnosis was confirmed as squamous cell carcinoma of the mandibular gingiva (cT2N1M0, stage III). Treatment consisted of mandibular marginal resection and a right-sided type III modified radical neck dissection. Pathological findings showed exophytic tumor growth with metastases involving the submental and submandibular lymph nodes. Considering the increased cancer risk associated with BS and its high sensitivity to radiation, no postoperative treatment was administered. Two years after surgery, the patient has been doing well. Since there is no definitive cure for BS, ongoing careful follow-up is essential to allow early detection of recurrence, secondary malignancies in other organs, and complications.
Takeuchi et al. (Sun,) studied this question.