Sum Melissa, Hoda Syed T, Rapp Timothy, Zan Elcin
Department of Medicine, NYU Langone Health, New York, New York.
Department of Pathology, NYU Langone Health, New York, New York.
AACE Clin Case Rep. 2021 Jun 18;7(6):363-366. doi: 10.1016/j.aace.2021.06.008. eCollection 2021 Nov-Dec.
Tumor-induced osteomalacia (TIO) is a rare osteomalacia characterized by paraneoplastic secretion of fibroblast growth factor 23. Concomitant occurrence of TIO during pregnancy is rarer still. Our objective was to report a young patient with debilitating fractures diagnosed with TIO who became pregnant and subsequently had her tumor localized by gallium-68 (Ga-68) DOTATATE positron emission tomography/magnetic resonance imaging (PET/MRI).
A 28 year-old woman with a 2-year history of stress fractures was found to have the following: (1) alkaline phosphatase level, 220 (reference range, 30-95) U/L; (2) phosphorus level, 2.1 (2.5-5.0) mg/dL; (3) 1,25-dihydroxyvitamin D3 level, <8 (18-72) pg/mL; (4) 24-hour urine phosphorus level, 0.5 (0.3-1.3) g; and (5) fibroblast growth factor 23 levels, 1241 (reference range, <180) RU/mL. The patient became pregnant, and at term, a cesarean delivery was performed. Ga-68 DOTATATE PET/MRI showed a 9-mm intracortical mass in the right fibular head and right femoral and bilateral calcaneal stress fractures. The fibular lesion was resected; pathology showed a 1.5-cm lesion with positive fibroblast growth factor receptor 1 staining.
This patient with TIO had an uneventful pregnancy and delivery. TIO is typically caused by benign mesenchymal tumors. Ga-68 DOTATATE PET/computed tomography has been used for localizing tumors causing TIO, yet MRI has superior contrast resolution over computed tomography. Therefore, it is not surprising that Ga-68 PET/MRI successfully localized this patient's tumor to the intracortical space of the fibular head and distinguished it from insufficiency fractures.
To our knowledge, this is the first report of phosphate treatment in a pregnant patient with TIO and the first report of a tumor-inducing TIO being localized by Ga-68 DOTATATE PET/MRI.
肿瘤诱导性骨软化症(TIO)是一种罕见的骨软化症,其特征为肿瘤旁分泌成纤维细胞生长因子23。孕期并发TIO则更为罕见。我们的目的是报告一名患有导致骨折的TIO的年轻患者,她在孕期通过镓-68(Ga-68)DOTATATE正电子发射断层扫描/磁共振成像(PET/MRI)定位了肿瘤。
一名有2年应力性骨折病史的28岁女性,检查发现如下情况:(1)碱性磷酸酶水平为220(参考范围30 - 95)U/L;(2)磷水平为2.1(2.5 - 5.0)mg/dL;(3)1,25 - 二羟维生素D3水平<8(18 - 72)pg/mL;(4)24小时尿磷水平为0.5(0.3 - 1.3)g;(5)成纤维细胞生长因子23水平为1241(参考范围<180)RU/mL。该患者怀孕足月后行剖宫产。Ga-68 DOTATATE PET/MRI显示右腓骨头有一个9毫米的皮质内肿块,以及右股骨和双侧跟骨应力性骨折。切除腓骨病变;病理显示为一个1.5厘米的病变,成纤维细胞生长因子受体1染色呈阳性。
这名患有TIO的患者孕期及分娩过程顺利。TIO通常由良性间充质肿瘤引起。Ga-68 DOTATATE PET/计算机断层扫描已用于定位导致TIO的肿瘤,但MRI的对比分辨率优于计算机断层扫描。因此,Ga-68 PET/MRI成功将该患者的肿瘤定位到腓骨头的皮质内空间并将其与不全骨折区分开来也就不足为奇了。
据我们所知,这是首例关于孕期TIO患者磷酸盐治疗的报告,也是首例通过Ga-68 DOTATATE PET/MRI定位诱导TIO的肿瘤的报告。