Blanchet Elise M, Gabriel Sophie, Martucci Victoria, Fakhry Nicolas, Chen Clara C, Deveze Arnaud, Millo Corina, Barlier Anne, Pertuit Morgane, Loundou Anderson, Pacak Karel, Taïeb David
Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France.
Eur J Clin Invest. 2014;44(3):325-332. doi: 10.1111/eci.12239.
Hereditary head and neck paragangliomas (HNPGLs) account for at least 35% of all HNPGLs, most commonly due to germline mutations in SDHx susceptibility genes. Several studies about sympathetic paragangliomas have shown that (18)F-FDG PET/CT was not only able to detect and localize tumours, but also to characterize tumours ((18)F-FDG uptake being linked to SDHx mutations). However, the data concerning (18)F-FDG uptake specifically in HNPGLs have not been addressed. The aim of this study was to evaluate the relationship between (18)F-FDG uptake and the SDHx mutation status in HNPGL patients.
(18)F-FDG PET/CT from sixty HNPGL patients were evaluated. For all lesions, we measured the maximum standardized uptake values (SUVmax), and the uptake ratio defined as HNPGL-SUVmax over pulmonary artery trunk SUVmean (SUVratio). Tumour sizes were assessed on radiological studies.
Sixty patients (53.3% with SDHx mutations) were evaluated for a total of 106 HNPGLs. HNPGLs-SUVmax and SUVratio were highly dispersed (1.2-30.5 and 1.0-17.0, respectively). The HNPGL (18)F-FDG uptake was significantly higher in SDHx versus sporadic tumours on both univariate and multivariate analysis (P = 0.002). We developed two models for calculating the probability of a germline SDHx mutation. The first one, based on a per-lesion analysis, had an accuracy of 75.5%. The second model, based on a per-patient analysis, had an accuracy of 80.0%.
(18)F-FDG uptake in HNPGL is strongly dependent on patient genotype. Thus, the degree of (18)F-FDG uptake in these tumours can be used clinically to help identify patients in whom SDHx mutations should be suspected.
遗传性头颈部副神经节瘤（HNPGLs）占所有HNPGLs的至少35%，最常见的原因是SDHx易感基因的种系突变。几项关于交感神经副神经节瘤的研究表明，（18）F-FDG PET/CT不仅能够检测和定位肿瘤，还能够对肿瘤进行特征描述（（18）F-FDG摄取与SDHx突变有关）。然而，关于（18）F-FDG在HNPGLs中的摄取情况的数据尚未得到探讨。本研究的目的是评估HNPGL患者中（18）F-FDG摄取与SDHx突变状态之间的关系。
对60例HNPGL患者的（18）F-FDG PET/CT进行评估。对于所有病变，我们测量了最大标准化摄取值（SUVmax），以及摄取率，定义为HNPGL的SUVmax除以肺动脉主干的SUVmean（SUVratio）。在影像学研究中评估肿瘤大小。
对60例患者（53.3%有SDHx突变）共106个HNPGLs进行了评估。HNPGL的SUVmax和SUVratio高度分散（分别为1.2-30.5和1.0-17.0）。单因素和多因素分析均显示，SDHx相关肿瘤的HNPGL（18）F-FDG摄取显著高于散发性肿瘤（P = 0.002）。我们开发了两种计算种系SDHx突变概率的模型。第一种基于每个病变的分析，准确率为75.5%。第二种模型基于每个患者的分析，准确率为80.0%。
HNPGL中（18）F-FDG摄取强烈依赖于患者基因型。因此，这些肿瘤中（18）F-FDG摄取程度可在临床上用于帮助识别应怀疑有SDHx突变的患者。
