A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau disease

Abstract

Background Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor syndrome. Affected patients develop central nervous system hemangioblastomas and abdominal tumors, among other lesions. Patients undergo an annual clinical screening program including separate magnetic resonance imaging (MRI) of the brain, whole spine and abdomen. Consequently, patients are repeatedly subjected to time-consuming and expensive MRI scans, performed with cumulative Gadolinium injections. We report our experience with a 35-min whole body MRI screening protocol, specifically designed for detection of VHL-associated lesions. Methods We designed an MRI protocol dedicated to the typical characteristics of VHL-associated lesions in different imaging sequences, within the time frame of 35 min. Blank imaging of the abdomen is carried out first, followed by abdominal sequences with Gadolinium contrast. Next, the full spine is examined, followed by imaging of the brain. A single dose of contrast used for abdominal imaging is sufficient for further highlighting of spine- and brain lesions, thus limiting the Gadolinium dosage. We used 1.5 Tesla equipment, dealing with fewer artifacts compared to a 3 Tesla system for spine- and abdominal imaging, while preserving acceptable quality for central nervous system images. In addition, imaging on a 1.5 Tesla scanner is slightly faster. Results From January 2016 to November 2018, we performed 38 whole body screening MRIs in 18 VHL patients; looking for the most common types of VHL lesions in the abdomen, spine, and brain, both for new lesions and follow-up. The one-step approach MRI examinations lead to 6 surgical interventions for clinically significant or symptomatic hemangioblastomas in the brain and spine. One renal cell carcinoma was treated with radiofrequency ablation. In comparison with previous conventional MRI scans of the same patients, all lesions were visible with the focused protocol. Conclusions Annual screening in VHL disease can be done in a rapid, safe and sensitive way by using a dedicated whole body MRI protocol; saving MRI examination time and limiting Gadolinium dose.

Pheochromocytomas and paragangliomas in von Hippel–Lindau disease: not a needle in a haystack

“…A total of 80 studies were included in this systematic review. Of these, 45 cohort studies were used in the meta-analytical quantitative synthesis of the frequency of PPGL among participants with vHL ( 8 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 ). On the other hand, 52 studies were used in the frequency analysis of PPGL in vHL type 2 ( 16 , 17 , 21 , 25 , 26 , 28 , 29 , 35 , 36 , 40 , 44 , 45 , 47 , 48 , 53 , 55 , 56 , 59 , 60 , 61 , …”

“…The meta-analysis assessing the frequency of PPGL comprised 45 studies with a total of 4263 participants with vHL ( 8 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 ). Most of these studies were conducted in Europe ( n = 21) ( 8 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 ), followed by Eastern Asia ( n = 14) (…”

“…The meta-analysis assessing the frequency of PPGL comprised 45 studies with a total of 4263 participants with vHL (8,. Most of these studies were conducted in Europe (n=21) (8,(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34) 1). In meta-regression analysis (Table 2), studies published in more recent years were associated with a significantly increased frequency of PPGL (OR=1.04, 95%CI=1.01-1.08, p=0.013).…”

Detection and Characterization of Musculoskeletal Cancer Using Whole-Body Magnetic Resonance Imaging

“…Other mutations include TPM3-ALK and TPM4-ALK present in inflammatory myofibroblastic tumors that is linked to non-small cell lung cancer, or T41A and S45P present within desmoid tumors that is also linked to adrenocortical cancers and patients with Von Hippel-Lindau syndrome. 87 The clinical relevance of detecting these genes in asymptomatic individuals remains unclear in most scenarios, but recent studies have explored the potential of offering oncologic therapeutic agents that can suppress gene expression in these patients. 88 Until the benefits of such approaches are validated in randomized controlled studies, WB-MRI may play a role in the screening of high-risk individuals, following risk stratification and genetic counseling.…”

“…When interpreting DWI sequences: maximal intensity projections (MIPs) and multiplanar reformatted views (MPRs) increase the speed and accuracy of depicting and localizing the abnormalities. 42,87 MIPs of high b-value images (MIP-b800 or MIP-b900 s/mm 2 ) could be degraded by respiratory artifacts and T2 shine-through and should therefore be interpreted in conjunction with the original axial b-value images and ADC maps. 4. Review areas should include vertebrae, posterior elements, ribs, and skull.…”