肿瘤诱导的骨软化症:一个全面的综述。

IF 22 1区 医学 Q1 ENDOCRINOLOGY & METABOLISM Endocrine reviews Pub Date : 2023-03-04 DOI:10.1210/endrev/bnac026
Salvatore Minisola, Seiji Fukumoto, Weibo Xia, Alessandro Corsi, Luciano Colangelo, Alfredo Scillitani, Jessica Pepe, Cristiana Cipriani, Rajesh V Thakker
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引用次数: 11

摘要

肿瘤诱导的骨软化症(TIO)是一种罕见的副肿瘤综合征,由于纤维母细胞生长因子23 (FGF23)的过量产生,对患者的发病率有深远的影响。TIO是一种未被充分诊断的疾病,应提高医师对该病的认识,及时妥善地管理患者。TIO患者报告的症状通常是非特异性的,因此诊断难以捉摸,初始误诊率超过95%。TIO的生化特征表现为低磷血症,FGF23水平升高或不正常,循环1,25-二羟基维生素D (1,25(OH)2D)从低到低。在大多数受影响的患者中,磷质间充质肿瘤是TIO的病理实体。现在有证据表明,FN1-FGFR1和FN1-FGF1融合基因存在于大约一半引起这种副肿瘤综合征的肿瘤中。引起TIO的肿瘤体积小,生长缓慢。它们可以发生在身体从头到脚的所有部位,软组织和骨骼的患病率相似。有许多功能和解剖成像技术用于肿瘤定位;基于68Ga的dota技术具有更好的灵敏度。手术是治疗的首选;在无法定位肿瘤或切除不完全的情况下,现在有几种医学治疗方法。
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Tumor-induced Osteomalacia: A Comprehensive Review.

Tumor-induced osteomalacia (TIO) is an ultrarare paraneoplastic syndrome due to overproduction of fibroblast growth factor 23 (FGF23), with profound effects on patient morbidity. TIO is an underdiagnosed disease, whose awareness should be increased among physicians for timely and proper management of patients. Symptoms reported by patients with TIO are usually nonspecific, thus rendering the diagnosis elusive, with an initial misdiagnosis rate of more than 95%. Biochemical features of TIO are represented by hypophosphatemia, increased or inappropriately normal levels of FGF23, and low to low normal circulating 1,25-dihydroxyvitamin D (1,25(OH)2D). Phosphaturic mesenchymal tumors are the pathological entities underlying TIO in most affected patients. There is now evidence that FN1-FGFR1 and FN1-FGF1 fusion genes are present in about half of tumors causing this paraneoplastic syndrome. Tumors causing TIO are small and grow slowly. They can occur in all parts of the body from head to toe with similar prevalence in soft tissue and bone. There are a number of functional and anatomical imaging techniques used for tumor localization; 68Ga DOTA-based technologies have better sensitivity. Surgery is the treatment of choice; several medical treatments are now available in case of inability to locate the tumor or in case of incomplete excision.

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来源期刊
Endocrine reviews
Endocrine reviews 医学-内分泌学与代谢
CiteScore
42.00
自引率
1.00%
发文量
29
期刊介绍: Endocrine Reviews, published bimonthly, features concise timely reviews updating key mechanistic and clinical concepts, alongside comprehensive, authoritative articles covering both experimental and clinical endocrinology themes. The journal considers topics informing clinical practice based on emerging and established evidence from clinical research. It also reviews advances in endocrine science stemming from studies in cell biology, immunology, pharmacology, genetics, molecular biology, neuroscience, reproductive medicine, and pediatric endocrinology.
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