A Family with Von Hippel-Lindau Syndrome: The Findings of Indium-111 Somatostatin Receptor Scintigraphy, Iodine-123 Metaiodobenzylguanidine Scintigraphy and Single Photon Emission Computerized Tomography

Abstract

Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant hereditary familial disorder characterized by development of malignant and benign neoplasms. Differential diagnosis of the adrenal and pancreatic masses are difficult in patients with VHLS. Iodine-123 metaiodobenzylguanidine (I-123 MIBG) and indium-111 somatostatin receptor scintigraphies (In-111 SRS) have important roles in the differential diagnosis of adrenal and pancreatic masses in those patients. In this case report, we present the findings of I-123 MIBG single-photon emission computerized tomography (SPECT/CT) and In-111 SRS SPECT/CT in three members of a family with VHLS. In case 1, a residual neuroendocrine tumor (NET) was detected in the head of pancreas on In-111 SRS SPECT/CT images. In case 2 and 3, I-123 MIBG SPECT/CT confirmed the adrenal masses as pheochromocytoma, and the extra-adrenal mass as NET, before surgery. We thought that In-111 SRS and I-123 MIBG scan might be helpful in the routine work up of VHLS patients for diagnostic and therapeutic purposes. Hybrid SPECT/CT system may improve diagnostic accuracy of planar images since it assesses morphologic and functional information together.

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

“…Most of these studies were conducted in Europe ( n =18) ( 16 , 17 , 21 , 25 , 26 , 28 , 29 , 62 , 66 , 68 , 70 , 71 , 72 , 73 , 76 , 83 , 91 , 92 ), followed by Eastern Asia ( n =17) ( 35 , 36 , 40 , 44 , 45 , 47 , 48 , 74 , 75 , 77 , 78 , 79 , 80 , 81 , 82 , 86 , 87 ) and North America ( n =9) ( 53 , 59 , 60 , 61 , 63 , 64 , 65 , 69 , 84 ). All studies assessed patients of all age groups, with the mean onset age of PPGL being 28.8 years (as reported in 21 studies ( 21 , 26 , 35 , 40 , 44 , 47 , 55 , 59 , 60 , 61 , 65 , 67 , 71 , 72 , 74 , 77 , 79 , 85 , 86 , 87 , 88 )). Six studies reported a cons...…”

“…All studies assessed patients of all age groups, with the mean onset age of PPGL being 28.8 years (as reported in 21 studies ( 21 , 26 , 35 , 40 , 44 , 47 , 55 , 59 , 60 , 61 , 65 , 67 , 71 , 72 , 74 , 77 , 79 , 85 , 86 , 87 , 88 )). Six studies reported a consecutive sample ( 16 , 17 , 29 , 66 , 77 , 78 ), whereas in 39 studies a convenience sample was assessed ( 21 , 25 , 35 , 45 , 47 , 53 , 56 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 , 89 , 90 , 91 , 92 , 93 ).…”

“…The frequency of PPGL among participants with vHL type 2 was 60.0% (95% CI = 53.4–66.3%), with moderate heterogeneity being observed ( I 2 = 54.6%) ( 16 , 17 , 21 , 25 , 26 , 28 , 29 , 35 , 36 , 40 , 44 , 45 , 47 , 48 , 53 , 55 , 56 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 , 89 , 90 , 91 , 92 , 93 ) ( Table 1 ). We observed lower heterogeneity in subgroup analyses restricted to convenience sampling ( I 2 = 25.6%) and to patients whose diagnosis was performed only clinically ( I 2 = 23.1%) (Supplementary Table 7).…”

“…Twenty-four studies, with a total of 256 participants with vHL type 2B, reported the frequency of PPGL among these patients ( 21 , 29 , 36 , 40 , 44 , 45 , 48 , 53 , 55 , 56 , 64 , 66 , 67 , 68 , 72 , 77 , 78 , 83 , 84 , 86 , 88 , 89 , 91 , 93 ). The meta-analytical frequency of PPGL among participants with vHL type 2B was 49.8% (95% CI = 39.9–59.7%, I 2 = 42.7%) ( 21 , 29 , 36 , 40 , 44 , 45 , 48 , 53 , 55 , 56 , 64 , 66 , 67 , 68 , 72 , 77 , 78 , 83 , 84 , 86 , 88 , 89 , 91 , 93 ) ( Table 1 ).…”

“…Twenty-four studies, with a total of 256 participants with vHL type 2B, reported the frequency of PPGL among these patients ( 21 , 29 , 36 , 40 , 44 , 45 , 48 , 53 , 55 , 56 , 64 , 66 , 67 , 68 , 72 , 77 , 78 , 83 , 84 , 86 , 88 , 89 , 91 , 93 ). The meta-analytical frequency of PPGL among participants with vHL type 2B was 49.8% (95% CI = 39.9–59.7%, I 2 = 42.7%) ( 21 , 29 , 36 , 40 , 44 , 45 , 48 , 53 , 55 , 56 , 64 , 66 , 67 , 68 , 72 , 77 , 78 , 83 , 84 , 86 , 88 , 89 , 91 , 93 ) ( Table 1 ). Low or undetectable heterogeneity was observed when performing subgroup analyses restricted to European studies (pooled frequency = 37.8%, 95% CI = 27.8–48.9%, P = 0.778, I 2 = 0%) or to studies using convenience sampling (pooled frequency = 55.9%, 95% CI = 46.1–65.2%, P = 0.135, I 2 = 12.7%) ( Table 4 ).…”