B Santosh, V Anand
Bangalore Baptist Hospital, Bengaluru, Karnataka, India.
J Assoc Physicians India. 2023 Jan;71(1):1.
Oncogenic osteomalacia or tumor induced osteomalacia (TIO) is a rare acquired paraneoplastic syndrome characterized by defective bone mineralization secondary to release of Fibroblast Growth Factor-23 (FGF-23), a phosphaturic protein - released from small, slow-growing mesenchymal tumors. Here, we report such a case and how it was investigated.
A 31 year old female presented with history of left leg pain and difficulty in walking since 1 year. General and systemic examination were found to be within normal limits and initial diagnostic workup revealed elevated alkaline phosphatase. X-ray bilateral hip and legs showed pseudo fractures of femur and tibia. Hence a probable diagnosis of metabolic bone disease was considered and further workup showed isolated hypophosphatemia. Patient was worked up for hypophosphatemic osteomalacia and further investigations showed low Tmp-GFR with a high FGF23 level. Hence a diagnosis of oncogenic osteomalacia was considered and a whole body PET scan was done which showed evidence of mesenchymal tumor in the right lower limb. Removal of the tumor resulted in resolution of symptoms and hence the diagnosis of oncogenic osteomalacia was confirmed.
Hypophosphatemia Normal S. Calcium and S. Vitamin D3 levels Conclusion: Oncogenic osteomalcia is a rare paraneoplastic form of renal phosphate wasting that results in severe hypophosphatemia and has excellent prognosis as surgical removal of the causative tumor results in dramatic improvement. High index of suspicion combined with prompt investigations can result in early diagnosis of the causative tumor and proper surgical treatment which will improve outcomes. Reference Chong WH, Molinolo AA, Chen CC, et al. Tumor-induced osteomalacia. Endocr Relat Cancer 2011;18(3):R53-R77.
致癌性骨软化症或肿瘤诱导的骨软化症(TIO)是一种罕见的获得性副肿瘤综合征,其特征是继发于成纤维细胞生长因子-23(FGF-23,一种从生长缓慢的小间充质肿瘤释放的排磷蛋白)释放的骨矿化缺陷。在此,我们报告这样一例病例及其检查过程。
一名31岁女性,自述1年来左腿疼痛且行走困难。全身检查均在正常范围内,初步诊断检查显示碱性磷酸酶升高。双髋和双腿X线检查显示股骨和胫骨假骨折。因此考虑代谢性骨病的可能诊断,进一步检查显示孤立性低磷血症。对患者进行低磷性骨软化症检查,进一步检查显示肾小管磷重吸收率(Tmp-GFR)降低且FGF23水平升高。因此考虑致癌性骨软化症的诊断,并进行了全身PET扫描,结果显示右下肢有间充质肿瘤迹象。切除肿瘤后症状缓解,从而确诊致癌性骨软化症。
低磷血症,血清钙和血清维生素D3水平正常
致癌性骨软化症是一种罕见的副肿瘤性肾磷酸盐消耗形式,可导致严重低磷血症,预后良好,因为手术切除致病肿瘤可使病情显著改善。高度怀疑并及时进行检查可早期诊断致病肿瘤并进行适当的手术治疗,从而改善预后。参考文献:Chong WH, Molinolo AA, Chen CC, 等。肿瘤诱导的骨软化症。《内分泌相关癌症》2011;18(3):R53-R77。