Imaging findings in the head and neck of phosphaturic mesenchymal tumors
摘要
Phosphaturic mesenchymal tumors (PMTs) are rare neoplasms and the primary cause of tumor-induced osteomalacia (TIO), resulting from excess Fibroblast Growth Factor-23 (FGF-23) production. While most PMTs arise in the extremities, head and neck involvement is uncommon and difficult to diagnose due to variable imaging features and complex regional anatomy. This study aims to characterize the imaging and clinical features of head and neck PMTs to improve recognition and localization.
MethodsA retrospective review of radiology and pathology databases from 1999 to 2024 identified 181 potential PMTs, of which 40 met inclusion criteria after exclusions, including 7 involving the head and neck. Imaging across CT, MRI, and nuclear medicine modalities was reviewed by a board-certified neuroradiologist for tumor morphology and signal characteristics. Clinical data, including symptoms, biochemical findings, treatment, and outcomes, were collected from medical records.
ResultsAmong the 7 patients (3 males, 4 females), tumors most commonly occurred in the nasal cavity (n = 2) and skull base (n = 3). Lesions demonstrated either osseous-predominant involvement with cortical expansion, a narrow transition zone, and heterogeneous matrix, or soft-tissue–predominant appearance with adjacent osteolysis. MRI features demonstrated variable T1 characteristics, with more consistent T2 iso- to hyperintensity with T2 dark foci, and strong, often homogeneous, enhancement. Nuclear imaging, when performed, revealed faint or indeterminate uptake on 18 F-FDG PET/CT, whereas 68Ga-DOTATATE PET/CT demonstrated avid tracer accumulation.
ConclusionHead and neck PMTs show characteristic imaging patterns, frequently including bone involvement and distinctive MRI signal features. Recognizing these findings—especially in patients with biochemical evidence suggestive of TIO—may enable earlier tumor localization and guide curative treatment.