Dhakal Prashiddha, Goyal Alpesh, Jyotsna Viveka P, Arya Ashutosh K, Kandasamy Devasenathipathy, Agarwal Shipra, Tripathi Madhvi, Kalaivani Mani, Khadgawat Rajesh, Tandon Nikhil
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India.
Indian J Endocrinol Metab. 2025 Jul-Aug;29(4):414-422. doi: 10.4103/ijem.ijem_43_25. Epub 2025 Aug 26.
Tumour-induced osteomalacia (TIO) is rare. At our referral centre, we see a substantial number of TIO. Therefore, we planned to study their profile and treatment outcomes to provide insight in management.
This ambispective study evaluated 43 patients with TIO treated at our centre (2014-2024). Patients were grouped into (a) Localised TIO ( = 31; histopathology suggesting phosphaturic mesenchymal tumour or disease remission and (b) Unlocalised TIO ( = 12; occult tumour and negative genetic testing for hereditory hypophosphatemic disorders).
The mean age of participants was 40.9 ± 13.4 years. The median diagnostic delay was 3 years from symptom onset. Bone pain, muscle weakness, fractures, teeth loss, and palpable lump were presenting features. Two had intact fibroblast growth factor 23 (iFGF23) in normal range. No significant clinical bias existed between tubular maximum reabsorption of phosphate/glomerular filtration rate (TmP/GFR) calculated using second void urine and 24-h urine samples. The most common location was lower limbs (41.9%), followed by head and neck (32.3%). Tracer avid lesions on Ga-68-DOTANOC-positron emission tomography/computed tomography (PET/CT) were noted in 30/43 (69.8%) patients. Of the 13 patients negative on somatostatin receptor-based imaging, only one showed tracer avid lesion on F-18-fluorodeoxyglucose-PET/CT scan. Disease remission was documented in 19/24 (79.2%) patients undergoing surgical excision and 1/5 (20%) treated with radiofrequency ablation. After successful intervention, plasma iFGF23 levels normalised by Day-3, tubular reabsorption of phosphate and TmP/GFR by Day-4, and serum phosphate by Day-7. No patient with remission experienced relapse at a median follow-up of 4.25 years.
Ga-68-DOTANOC-PET/CT picked up maximum lesions, F-18-FDG-PET/CT picked up one additional lesion. Surgery was curative in most. Post successful intervention, iFGF23 normalised in all by the third day.
肿瘤诱导的骨软化症（TIO）较为罕见。在我们的转诊中心，我们诊治了大量TIO患者。因此，我们计划研究他们的病情特征和治疗结果，以便为治疗提供参考。
这项回顾性研究评估了2014年至2024年在我们中心接受治疗的43例TIO患者。患者被分为两组：（a）局限性TIO（n = 31；组织病理学提示磷尿性间叶肿瘤或疾病缓解）和（b）非局限性TIO（n = 12；隐匿性肿瘤且遗传性低磷血症性疾病基因检测为阴性）。
参与者的平均年龄为40.9±13.4岁。从症状出现到确诊的中位延迟时间为3年。主要症状包括骨痛、肌肉无力、骨折、牙齿脱落和可触及肿块。2例患者的成纤维细胞生长因子23（iFGF23）水平在正常范围内。使用第二次晨尿和24小时尿样计算的肾小管最大磷重吸收/肾小球滤过率（TmP/GFR）之间无显著临床差异。最常见的发病部位是下肢（41.9%），其次是头颈部（32.3%）。43例患者中有30例（69.8%）在Ga-68-DOTANOC正电子发射断层扫描/计算机断层扫描（PET/CT）上显示有放射性浓聚病灶。在基于生长抑素受体的成像检查中呈阴性的13例患者中，只有1例在F-18氟脱氧葡萄糖-PET/CT扫描上显示有放射性浓聚病灶。24例接受手术切除的患者中有19例（79.2%）病情缓解，5例接受射频消融治疗的患者中有1例（20%）病情缓解。成功干预后，血浆iFGF2水平在第3天恢复正常，磷的肾小管重吸收和TmP/GFR在第天恢复正常，血清磷在第7天恢复正常。在中位随访4.25年期间，所有病情缓解的患者均未复发。
Ga-68-DOTANOC-PET/CT发现的病灶最多，F-18-FDG-PET/CT又额外发现了1个病灶。大多数患者通过手术治愈。成功干预后，iFGF23在第3天全部恢复正常。
