Knie B, Plotkin M, Zschieschang P, Prasad V, Moskopp D
Bettina Knie, Klinik für Neurochirurgie, Vivantes Klinikum im Friedrichshain, Landsberger Allee 49, 10249 Berlin, Germany, Tel. +49/(0)30/130 23-15 26, Fax -20 57,
Nuklearmedizin. 2016;55(1):34-40. doi: 10.3413/Nukmed-0755-15-07. Epub 2016 Jan 7.
Hereditary pheochromocytoma-paraganglioma syndromes are characterized by multiple pheochromocytomas (PCC) and paragangliomas (PGLs), inherited in an autosomal dominant manner. Early detection and removal of tumours may prevent or minimize complications related to mass effects and malignant transformation. Having confirmed the diagnosis, it is important to localize the tumours and reveal their extent preoperatively. This study aimed to introduce 18F-DOPA PET/CT as a highly sensitive non-invasive diagnostic tool for early detection of mass lesions in patients with pheochromocytoma-paraganglioma inherited tumour syndrome and to report about its impact on patient management.
PATIENTS, METHODS: We are currently supervising one of the largest documented families in Germany with genetically determined SDHD gene mutation. We performed 18F-DOPA PET/CT in order to detect tumours in asymptomatic gene carriers and enable subsequent surgical therapy.
In seven patients undergoing 12 18F-DOPA PET/CT scans 17 lesions have been detected. Three of these lesions, located in the head and neck region, have had no morphologic correlate in CT and one had also no morphologic correlate in MRI. Of the six histologically analyzed lesions five have been tumors (PGL or PCC) and one has been a nodular hyperplasia. This means the 18F-DOPA PET/CT scan in our study group had a sensitivity of 83%. 18F-DOPA PET/CT investigations lead to change in the management in 5/7 studied patients (70%).
The benefits of PET/CT in detection of pheochromocytoma and paraganglioma are well documented, but we are the first to use this technique for screening of a rare hereditary disease (estimated prevalence 0.3/100 000).
遗传性嗜铬细胞瘤-副神经节瘤综合征的特征为多个嗜铬细胞瘤（PCC）和副神经节瘤（PGL），以常染色体显性方式遗传。早期检测并切除肿瘤可预防或减少与占位效应和恶性转化相关的并发症。确诊后，术前定位肿瘤并明确其范围很重要。本研究旨在引入18F-DOPA PET/CT作为一种高度敏感的非侵入性诊断工具，用于早期检测嗜铬细胞瘤-副神经节瘤遗传性肿瘤综合征患者的占位性病变，并报告其对患者管理的影响。
我们目前正在对德国一个有基因确定的SDHD基因突变的最大记录家族之一进行监测。我们进行了18F-DOPA PET/CT检查，以检测无症状基因携带者中的肿瘤，并进行后续手术治疗。
在7例接受12次18F-DOPA PET/CT扫描的患者中，检测到17个病变。其中3个位于头颈部的病变在CT上无形态学对应物，1个在MRI上也无形态学对应物。在6个经组织学分析的病变中，5个为肿瘤（PGL或PCC），1个为结节性增生。这意味着我们研究组中18F-DOPA PET/CT扫描的敏感性为83%。18F-DOPA PET/CT检查导致7例研究患者中的5例（70%）治疗方案改变。
PET/CT在检测嗜铬细胞瘤和副神经节瘤方面的益处已有充分记录，但我们是首次将该技术用于一种罕见遗传病（估计患病率为0.3/100 000）的筛查。
