gallium-ga-68-dotatate and von-Hippel-Lindau-Disease

Von Hippel-Lindau (VHL) is a rare predominantly hereditary syndrome characterized by multiple benign and malignant tumors that can affect different organ systems. We present representative images of a 68Ga-DOTATATE PET/CT in a patient with confirmed VHL gene mutation, which demonstrates a constellation of findings commonly seen in these patients in one single imaging modality.

Topics: Humans; Mutation; Organometallic Compounds; Positron Emission Tomography Computed Tomography; von Hippel-Lindau Disease

Topics: Female; Humans; Magnetic Resonance Imaging; Middle Aged; Neuroendocrine Tumors; Organometallic Compounds; Pancreatectomy; Pancreatic Neoplasms; Positron Emission Tomography Computed Tomography; Radiopharmaceuticals; von Hippel-Lindau Disease

Von Hippel-Lindau disease is an inherited syndrome associated with several benign and malignant tumors such as central nervous system (CNS) hemangioblastoma. Herein, we report a known case of A Von Hippel-Lindau patient with a cerebral hemangioblastoma who was referred for further evaluation because of recent paraparesis. F-FDG PET/CT showed no focal uptake in the thoracic spine, which demonstrated increased Ga DOTATATE activity, owing to overexpression of somatostatin receptors, suggesting spinal cord hemangioblastoma. This case report indicates the significant role of Ga-labeled somatostatin receptor analogs in the diagnosis of hemangioblastoma.

Topics: Adult; Cerebellar Neoplasms; Fluorodeoxyglucose F18; Hemangioblastoma; Humans; Male; Organometallic Compounds; Positron Emission Tomography Computed Tomography; Receptors, Somatostatin; von Hippel-Lindau Disease

Retinal hemangioblastomas are highly vascular benign tumors that can be encountered either sporadically or within the von Hippel-Lindau (VHL) syndrome. We report a case of a VHL patient with retinal hemangioblastoma who underwent PET/CT scans using F-FDG and Ga-DOTATATE. The tumor showed low-level F-FDG and increased Ga-DOTATATE activity, suggesting cell-surface overexpression of somatostatin receptors. The presented case indicates the clinical applications of somatostatin receptor imaging with Ga-DOTA-conjugated peptides in detection and follow-up of VHL manifestations, screening of asymptomatic gene carriers, and in diagnosis of sporadic retinal hemangioblastomas, which may have similar features on MRI with other retinal tumors.

Topics: Adult; Fluorodeoxyglucose F18; Gallium Radioisotopes; Hemangioblastoma; Humans; Magnetic Resonance Imaging; Male; Organometallic Compounds; Positron Emission Tomography Computed Tomography; Radiopharmaceuticals; Receptors, Somatostatin; Retinal Neoplasms; von Hippel-Lindau Disease

Von Hippel-Lindau (VHL)-associated hemangioblastomas (VHL-HB) arise in the central nervous system (CNS), and are a leading cause of morbidity and mortality in VHL disease. Currently, surgical resection is the most effective way to manage symptomatic VHL-HBs. Surgically unresectable VHL-HBs or those in frail patients are challenging problems. Therapies targeting oncologic and vascular endothelial growth factor (VEGF) pathways have failed to demonstrate tumor control. Our experience and previous reports on VHL-HB avidity to somatostatin analogues suggested somatostatin receptor (SSTR) expression in VHL-HBs, offering an alternative therapeutic strategy. We explored this possibility by demonstrating consistent histologic expression of SSTR1, 2a, 4, and 5 in VHL-HBs. We found that somatostatin analogue octreotide induces apoptosis in VHL-HB stromal cells in a dose-dependent fashion by BAX - caspase-3 pathway unrelated to canonical VHL pathway. When administered to a patient with unresectable symptomatic suprasellar hemangioblastoma, octreotide resulted in tumor volume reduction, symptom stabilization, and tumor cytopenia on repeat

Topics: Apoptosis; Brain Neoplasms; Cells, Cultured; Female; Hemangioblastoma; Humans; Middle Aged; Octreotide; Organometallic Compounds; Radiopharmaceuticals; Receptors, Somatostatin; von Hippel-Lindau Disease

Neuroendocrine tumours of the pancreas (pNET) are observed in 8 - 17 % of patients with von Hippel-Lindau disease (vHLD), and 11 - 20 % of these patients develop metastatic disease. MRI and CT have a very high resolution; however, their sensitivity and specificity for the detection of pNET amongst cystic lesions in the pancreas of vHLD patients are generally considered insufficient. In contrast, (68)Ga-DOTATOC PET/CT demonstrates a high sensitivity for the diagnosis and staging of neuroendocrine tumours. In this study we investigated the potential role of (68)Ga-DOTATOC PET/CT in screening of patients with vHLD.. (68)Ga-DOTATOC PET/three-phase contrast-enhanced CT was performed according to guidelines in all consecutive vHLD patients between January 2012 and November 2015. All patients underwent additional MRI imaging of the abdomen, spine, and head. Chromogranin A (CgA) was determined at the time of the PET/CT examination. A lesion seen on (68)Ga-DOTATOC PET in the pancreas was defined as positive if the uptake was visually higher than in the surrounding tissues. Lesions were quantified using maximum SUV.. Overall, 20 patients (8 men, 12 women; mean age 44.7 ± 11.1 years) were prospectively examined. Genetically, 12 patients had type 1 vHLD and 8 had type 2 vHLD. (68)Ga-DOTATOC PET/CT detected more pNET than morphological imaging (CT or MRI): 11 patients (55 %; 8 type 1, 3 type 2) vs. 9 patients (45 %; 6 type 1, 3 type 2). The concentration of CgA was mildly elevated in 2 of 11 patients with pNET. The mean SUVmax of the pancreatic lesions was 18.9 ± 21.9 (range 5.0 - 65.6). Four patients (36.4 %) had multiple pNETs. The mean size of the lesions on CT and/or MRI was 10.4 ± 8.3 mm (range 4 - 38 mm), and 41.1 % were larger than 10 mm. In addition, somatostatin receptor-positive cerebellar and spinal haemangioblastomas were detected in three patients (SUVmax 2.1 - 10.1). One patient presented with a solitary somatostatin receptor-positive lymph node metastasis. pNETs were observed more frequently in vHLD type 1 than type 2 (66.7 % vs. 37.5 %, p = 0.089). None of the patients showed progressive disease during follow-up.. In this study, (68)Ga-DOTATOC PET detected pNETs in a higher proportion of patients with vHLD than found in previous studies with (111)In-octreoscan, the imaging method recommended by the NCCN. We therefore suggest (68)Ga-DOTATOC PET/CT as the more sensible screening tool.

Topics: Adult; Diagnosis, Differential; Feasibility Studies; Female; Humans; Male; Mass Screening; Middle Aged; Neuroendocrine Tumors; Organometallic Compounds; Pancreatic Neoplasms; Positron Emission Tomography Computed Tomography; Radiopharmaceuticals; Reproducibility of Results; Sensitivity and Specificity; von Hippel-Lindau Disease

Endolymphatic sac tumors (ELSTs) are rare tumors arising from the epithelium of the endolymphatic sac and duct that can be either sporadic or associated with von Hippel-Lindau (VHL) disease. We report a case of a VHL patient with histologically proven residual ELST who underwent Ga DOTATATE PET/CT showing increased activity (SUVmax, 6.29) by the ELST. The presented case of a VHL-associated ELST with increased Ga DOTATATE uptake indicates cell-surface expression of somatostatin receptors by this tumor, suggesting the potential application of somatostatin receptor imaging using Ga DOTA-conjugated peptides in the workup and management of these patients.

Topics: Ear Neoplasms; Endolymphatic Sac; Humans; Male; Middle Aged; Organometallic Compounds; Positron Emission Tomography Computed Tomography; Radiopharmaceuticals; von Hippel-Lindau Disease

von Hippel-Lindau (VHL) disease is a familial cancer syndrome characterized by the development of a variety of malignant and benign tumors, including epididymal cystadenomas. We report a case of a VHL patient with bilateral epididymal cystadenomas who was evaluated with Ga DOTATATE PET/CT, showing intensely increased activity (SUVmax, 21.6) associated with the epididymal cystadenomas, indicating cell-surface overexpression of somatostatin receptors. The presented case supports the usefulness of somatostatin receptor imaging using Ga DOTA-conjugated peptides for detection and follow-up of VHL manifestations, as well as surveillance of asymptomatic gene carriers.

Topics: Cystadenoma; Humans; Male; Middle Aged; Organometallic Compounds; Positron Emission Tomography Computed Tomography; Radiopharmaceuticals; Spermatocele; von Hippel-Lindau Disease

Renal and pancreatic cysts and tumors are the most common visceral manifestations of von Hippel-Lindau (VHL) disease, a heritable multisystem cancer syndrome characterized by development of a variety of malignant and benign tumors. We report a case of a VHL patient with multiple renal cystic and complex cystic/solid lesions. The patient underwent Ga-DOTA-TATE-PET/CT showing intensely increased activity by a solid lesion which demonstrated enhancement on both CT and MRI scans, raising high suspicion for malignancy. The presented case indicates application of SSTR-imaging using Ga-DOTA-conjugated peptides in VHL-patients and emphasizes the need for cautious interpretation of renal parenchyma Ga-DOTATATE activity.

Topics: Humans; Kidney Neoplasms; Magnetic Resonance Imaging; Male; Middle Aged; Organometallic Compounds; Positron Emission Tomography Computed Tomography; Radiopharmaceuticals; von Hippel-Lindau Disease