Imaging Features of von Hippel–Lindau Disease

Abstract

von Hippel-Lindau (VHL) disease is a rare, autosomal dominantly inherited multisystem disorder characterized by development of a variety of benign and malignant tumors. The spectrum of clinical manifestations of the disease is broad and includes retinal and central nervous system hemangioblastomas, endolymphatic sac tumors, renal cysts and tumors, pancreatic cysts and tumors, pheochromocytomas, and epididymal cystadenomas. The most common causes of death in VHL disease patients are renal cell carcinoma and neurologic complications from cerebellar hemangioblastomas. The various manifestations can be demonstrated with different imaging modalities such as ultrasonography, computed tomography, magnetic resonance imaging, and nuclear medicine. Although genetic testing is available, the manifestations of the syndrome are protean; therefore, imaging plays a key role in identification of abnormalities and subsequent follow-up of lesions. It is also used for screening of asymptomatic gene carriers and their long-term surveillance. Screening is important because the lesions in VHL disease are treatable; thus, early detection allows use of more conservative therapy and may enhance the patient's length and quality of life. A multidisciplinary team approach is important in screening for VHL disease.

Ga-68 Somatostatin Receptor PET/CT in von Hippel-Lindau Disease

“…Several institutions have suggested screening protocols according to afflicted organ, and most of them include imaging follow-up by CT, US, MRI, and sometimes using metaiodobenzylguanidine (MIBG) scintigraphy with I-123 or I-131 MIBG [1,2,4]. However, as shown by this case, PET/CT using Ga-68-labeled somatostatin analogs successfully detected a variety of different tumors in one VHL patient and was able to reveal lesions not found by MRI.…”

“…The diagnosis of von Hippel-Lindau disease is often based on clinical criteria including any one of the following: (1) more than one CNS hemangioblastoma, (2) one CNS hemangioblastoma and visceral manifestations of VHL disease, and (3) any manifestation and a known family history of VHL disease [1,2]. Several institutions have suggested screening protocols according to afflicted organ, and most of them include imaging follow-up by CT, US, MRI, and sometimes using metaiodobenzylguanidine (MIBG) scintigraphy with I-123 or I-131 MIBG [1,2,4].…”

“…VHL is characterized by the development of a variety of benign and malignant tumors, including retinal and central nervous system hemangioblastomas, endolymphatic sac tumors, renal cysts and tumors, pancreatic cysts and tumors, pheochromocytomas, and epididymal cystadenomas [2]. Although genetic testing is available, imaging modalities such as x-ray computed tomography (CT), magnetic resonance imaging (MRI), and ultrasound (US) or endoscopic ultrasound (EUS) play a major role in the initial evaluation and follow-up of the various manifestations of VHL disease [2][3][4].…”

Added Value of Arterial Spin-Labeling MR Imaging for the Differentiation of Cerebellar Hemangioblastoma from Metastasis

“…For the conventional image set, hemangioblastoma diagnoses were made according to the following findings: a markedly enhancing mural nodule with a large surrounding cyst, a solid enhancing nodule, or the presence of large draining and feeding vessels within the periphery and a solid nodule. 8,22 For the combined ASL image set, the observers were provided with the predictive findings, the measurement results (median and ranges) of each tumor, and the diagnostic performances of rTBF and the size ratio, which were acquired from the above image analyses.…”

Endolymphatic Sac Tumor Showing Increased Activity on 68Ga DOTATATE PET/CT

“…7 Because multiple VHL manifestations such as hemangioblastomas or pancreatic neuroendocrine tumors are known to overexpress somatostatin receptors (SSTRs), SSTR imaging with radiolabeled SST analogs has been employed in the workup of this disease. [8][9][10] The conjunction of SST analogs with the chelator DOTA enabled labeling with the PET-emitter 68 Ga, providing compounds with higher affinity to SSTRs compared with those used for conventional SSTR imaging with SPECT. Moreover, the superior resolution provided by hybrid PET/CT makes SSTR imaging using 68 Ga DOTA-conjugated peptides the new standard of reference for the detection and characterization of SSTR-positive lesions.…”