Berti Valentina, Fasciglione Elsa, Charpiot Anne, Montanini Flavio, Pepponi Miriam, Leo Andrea, Hubele Fabrice, Taieb David, Pacak Karel, Goichot Bernard, Imperiale Alessio
Nuclear Medicine Unit, Careggi University Hospital, Florence, Italy.
Experimental and Clinical Biomedical Sciences 'Mario Serio', Florence University, Florence, Italy.
J Endocrinol Invest. 2025 Apr;48(4):941-950. doi: 10.1007/s40618-024-02515-y. Epub 2024 Dec 12.
To investigate the influence of germline succinate dehydrogenase (SDHx) pathogenic variants on 6-[F]-fluoro-3,4-dihydroxyphenylalanine (F-DOPA) Positron Emission Tomography (PET) radiomic signature of head and neck paragangliomas (HNPGLs).
Forty-seven patients (20 SDH pathogenic variants carriers) harboring 55 HNPGLs were retrospectively included. HNPGLs were delineated using Nestle adaptive threshold. 128 radiomic features were extracted and harmonized to correct for batch effects. Principal Component Analysis (PCA) was performed to remove redundancy and avoid collinearity. The most representative feature of each component was tested with multivariate stepwise logistic binary regression analysis (LBRA) to identify variables predictive of genetic status.
F-DOPA Positron Emission Tomography/Computed Tomography (PET/CT) detected 28/29 carotid body HNPGLs, 23/23 jugulotympanic HNPGLs, and 4/4 vagal HNPGLs. SUVmax was significantly higher in SDH-related HNPGLs (p = 0.003). PCA allowed identification of 4 Components. The most representative variables of Component 1 and 2 (including intensity and intensity-related textural features, and not intensity-related textural features, respectively) were Intensity-based (IB)-SUVmedian and Grey Level Run Length Matrix-Long Run Low Gray Level Emphasis (GLRLM-LRLGLE). SDHx HNPGLs exhibited higher activity scores and more homogeneous texture. At patient level, SDHx cases showed significantly higher IB-SUVmedian values (p < 0.001), and lower GLRLM-LRLGLE than sporadic patients (p = 0.005). IB-SUVmedian was found to be an independent predictor of genetic status at lesion (71.0%) and patient level (77.8%).
The present study pioneers the application of F-DOPA PET radiomics for HNPGLs, suggesting the influence of germline SDH pathogenic variants on F-FDOPA uptake intensity and textural heterogeneity. Integrating radiomics with genetic data provides new insights into the correlation between PET features and underlying molecular dysregulation.
探讨种系琥珀酸脱氢酶（SDHx）致病变异对头颈部副神经节瘤（HNPGLs）的6-[F]-氟-3,4-二羟基苯丙氨酸（F-DOPA）正电子发射断层扫描（PET）影像组学特征的影响。
回顾性纳入47例携带55个HNPGLs的患者（20例SDH致病变异携带者）。使用雀巢自适应阈值勾勒出HNPGLs。提取128个影像组学特征并进行标准化以校正批次效应。进行主成分分析（PCA）以去除冗余并避免共线性。使用多变量逐步逻辑二元回归分析（LBRA）对每个成分最具代表性的特征进行测试，以识别预测基因状态的变量。
F-DOPA正电子发射断层扫描/计算机断层扫描（PET/CT）检测到28/29个颈动脉体HNPGLs、23/23个颈静脉鼓室HNPGLs和4/4个迷走神经HNPGLs。SDH相关的HNPGLs的SUVmax显著更高（p = 0.003）。PCA可识别出4个成分。成分1和2最具代表性的变量（分别包括基于强度和与强度相关的纹理特征以及与强度无关的纹理特征）是基于强度（IB）的SUV中位数和灰度游程长度矩阵-长游程低灰度强调（GLRLM-LRLGLE）。SDHx HNPGLs表现出更高的活性评分和更均匀的纹理。在患者层面，SDHx病例的IB-SUV中位数显著更高（p < 0.001），且GLRLM-LRLGLE低于散发性患者（p = 0.005）。发现IB-SUV中位数是病变（71.0%）和患者层面（77.8%）基因状态的独立预测因子。
本研究开创了F-DOPA PET影像组学在HNPGLs中的应用，表明种系SDH致病变异对F-FDOPA摄取强度和纹理异质性有影响。将影像组学与基因数据相结合为PET特征与潜在分子失调之间的相关性提供了新的见解。
