Poster Presentation ESA-SRB-ANZBMS 2024 in conjunction with ENSA

Successful medical treatment of adult cherubism with 6-monthly denosumab 60mg (#398)

Minh V Le 1 , Felix Sim 2 , Kapilan Varatharajah 3 , Christopher J Yates 1 4 5
  1. Department of Diabetes & Endocrinology, Royal Melbourne Hospital, Melbourne
  2. Department of Oral and Maxillofacial Surgery, Royal Melbourne Hospital, Melbourne, Australia
  3. Department of Radiology, Royal Melbourne Hospital, Melbourne, Australia
  4. Department of Medicine, The University of Melbourne, Melbourne
  5. Department of Endocrinology & Diabetes, Western Health, Melbourne, Victoria, Australia

Background Cherubism is a rare autosomal dominant skeletal dysplasia, affecting the maxilla and/or mandible. The condition typically has childhood onset, followed by progression until puberty, with subsequent regression.1,2 Cherubism lesions share histological features with giant cell tumour of bone, where high-dose monthly denosumab is an effective medical treatment. Therefore, denosumab has also been trialled in children with cherubism with positive outcomes.3 However, the role of denosumab in adult cherubism, particularly a lower dose and frequency, has not been established. 

Case description We present the case of a 60-year-old man with cherubism, reviewed for a new 39x21mm left mandibular lesion. The patient had multiple surgeries up to the age of 30 for tumours in the right maxilla and mandible. Given the impact of further surgery on his quality of life, the patient was referred to Endocrinology for consideration of medical therapy. His bone turnover markers were slightly elevated with normal calcium, phosphate, 25-OH vitamin D and parathyroid hormone levels. A bone density scan showed lumbar spine osteopaenia. He was commenced on 60mg denosumab 6-monthly with excellent clinical and radiological responses over the next 30 months. Most recent CT jaw showed a sustained reduction in the lesion size, measuring 36x18mm, with osteoid formation and improvement in cortical thinning. Surgery is no longer indicated. No adverse effects from denosumab were reported in the patient.

Discussion This is the first study to report the efficacy and safety of a low-dose denosumab regimen in the management cherubism. This treatment approach was able to prevent major surgery and minimise denosumab-related adverse effects. While the optimal treatment duration remains unclear, the patient will continue with 60mg denosumab 6-monthly in the short-term given the favourable response. In summary, a low-dose denosumab regimen should be considered for patients with cherubism, particularly those with contraindications or preference to avoid surgery.

  1. 1. Chrcanovic, B.R., et al., Cherubism: a systematic literature review of clinical and molecular aspects. Int J Oral Maxillofac Surg, 2021. 50(1): p. 43-53.
  2. 2. Papadaki, M.E., et al., Cherubism: best clinical practice. Orphanet J Rare Dis, 2012. 7 Suppl 1(Suppl 1): p. S6.
  3. 3. Cailleaux, P.E., et al., Pharmacological management of cherubism: A systematic review. Front Endocrinol (Lausanne), 2023. 14: p. 1104025.