Canakinumab in addition to phosphate-binding and phosphaturia-inducing therapy were effective in achieving remission in a child with a large familial calcinotic tumour

Maria Ochoa; Roman Jurencak; Kevin Smit; Sasha Carsen; Sarah L Sawyer; Marie-Eve Robinson; Karine Khatchadourian; Hooi Peng Cheng; Marika Pagé; Joel Werier; Leanne Marie Ward

doi:10.1016/j.bonr.2023.101695

Canakinumab in addition to phosphate-binding and phosphaturia-inducing therapy were effective in achieving remission in a child with a large familial calcinotic tumour

Bone Rep. 2023 Jun 15:19:101695. doi: 10.1016/j.bonr.2023.101695. eCollection 2023 Dec.

Authors

Maria Ochoa^{1

2

3}, Roman Jurencak⁴, Kevin Smit^{1

5}, Sasha Carsen^{1

3}, Sarah L Sawyer⁶, Marie-Eve Robinson^{1

3

7}, Karine Khatchadourian^{1

3

7}, Hooi Peng Cheng^{1

3}, Marika Pagé^{1

3}, Joel Werier^{3

8}, Leanne Marie Ward^{1

3

7}

Affiliations

¹ The Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
² Endocrinology Unit, Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
³ Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
⁴ Department of Pediatrics, University of Ottawa, Division of Pediatric Rheumatology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
⁵ Department of Surgery, University Of Ottawa, Division of Pediatric Orthopedic Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
⁶ Department of Pediatrics, University of Ottawa, Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
⁷ Department of Pediatrics, University Of Ottawa, Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
⁸ Department of Surgery, University Of Ottawa, Division of Adult Orthopedic Surgery, The Ottawa General Hospital, Ottawa, Ontario, Canada.

Abstract

We describe the clinical evolution of a patient with tumoral calcinosis due to a pathogenic variant in the GALNT3 gene presented with a large mass overlying her left hip associated complicated by inflammatory flares. Therapy (sevelamer, acetazolamide, and probenecid) was unsuccessful in preventing tumour surgeries, therefore, interleukin-1β monoclonal antibody therapy was added; this was successful in the prevention of tumour re-growth. This case highlights the importance of assessing and treating the inflammatory aspect of calcinotic tumour.

Keywords: Acetazolamide; Anti-IL1 beta antibody; Familial tumoral calcinosis; GLANT3 mutation; Probenecid; Sevelamer.

Publication types

Case Reports