Intracranial phosphaturic mesenchymal tumors. A case report and review of literature
Intracranial phosphaturic mesenchymal tumors. A case report and review of literature
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DOI：
10.1111/neup.12817
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发表时间：
2022-07
期刊：
影响因子：
2.3
通讯作者：
Daijiro Kojima;S. Ohba;M. Abe;A. Suzuki;S. Horibe;I. Tateya;M. Hasegawa;Y. Hirose
中科院分区：
文献类型：
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作者：
Daijiro Kojima;S. Ohba;M. Abe;A. Suzuki;S. Horibe;I. Tateya;M. Hasegawa;Y. Hirose
大多数骨软化性肿瘤(OITs)是分泌成纤维细胞生长因子23(FGF23)的磷酸尿性间充质肿瘤(PMT)。这些肿瘤通常发生在骨和软组织中，而颅内OITs很少见。因此，颅内OIT的诊断和治疗较为困难。本文报告一例颅内OIT，并复习了以往的病例。一位45岁的男性患者接受了鼻腔活检，并用活性维生素D3和中性磷酸盐治疗低磷血症。检测肿瘤内FGF23mRNA水平的扩增。随后，手术标本被诊断为PMT，并被认为是患者骨软化的原因。患者被转诊到神经外科，切除了延伸到鼻腔的颅内肿瘤。肿瘤切除后，血清FGF23和磷水平与术前相比恢复正常。手术后约10年，患者仍无疾病，未接受额外治疗，肿瘤无复发。根据文献，颅内OITs通常发生在8-69岁的患者中。骨骼和肌肉疼痛是主要的主诉。以前报告的患者中，大约60%的人因为颅内肿瘤而出现症状。在某些情况下，在骨软化症症状出现后，OIT需要几年的时间才能诊断出来。这些病例的实验室数据显示，低磷血症和FGF23水平升高。由于FGF23水平与骨软化症状的严重程度相关，建议全切除肿瘤。PMT和血管外皮细胞瘤(HPC)在组织学上相似，但免疫组织化学显示PMT信号转导和转录激活子6(STAT6)阴性，而HPC阳性。FGF23扩增见于PMTs，但不见于HPC。因此，对FGF23和STAT6的分析有助于区分PMTs和HPC。对于无代谢、肾脏或吸收不良病史的低磷血症和骨软化症患者，应考虑致癌性骨软化症的可能性。
Most osteomalacia‐inducing tumors (OITs) are phosphaturic mesenchymal tumors (PMTs) that secrete fibroblast growth factor 23 (FGF23). These tumors usually occur in the bone and soft tissues, and intracranial OITs are rare. Therefore, intracranial OIT is difficult to diagnose and treat. This paper presents a case of intracranial OIT and shows a review of previous cases. A 45‐year‐old man underwent nasal cavity biopsy and treatment with active vitamin D3 and neutral phosphate for hypophosphatemia. Amplification of FGF23 mRNA level within the tumor was detected. Subsequently, the surgical specimen was diagnosed with a PMT and was considered the cause of the patient's osteomalacia. The patient was referred to a neurosurgery department for the excision of the intracranial tumor extending to the nasal cavity. After tumor removal, the serum levels of FGF23 and phosphorus were normalized as compared to preoperative those. The patient remains disease‐free, without additional treatment, approximately 10 years after surgery, with no tumor recurrence. As per the literature, intracranial OITs usually occur in patients aged 8–69 years. Bone and muscle pain are major complaints. Approximately 60% of the patients reported previously had symptoms because of intracranial tumors. In some cases, it took several years to diagnose OIT after the onset of the osteomalacia symptoms. Laboratory data in such cases show hypophosphatemia and elevated FGF23 levels. Because FGF23 levels are associated with the severity of osteomalacia symptoms, total tumor resection is recommended. PMT and hemangiopericytoma (HPC) are histologically similar, but on immunochemistry, PMT is negative for signal transducer and activator of transcription 6 (STAT6), whereas HPC is positive. FGF23 amplification is seen in PMTs but not in HPCs. Therefore, the analysis of FGF23 and STAT6 was helpful in distinguishing PMTs from HPCs. In cases of hypophosphatemia and osteomalacia without a history of metabolic, renal, or malabsorptive diseases, the possibility of oncogenic osteomalacia should be considered.