High incidence of extraadrenal paraganglioma in families with SDHx syndromes detected by functional imaging with [18F]fluorodihydroxyphenylalanine PET

Miederer, Matthias; Fottner, Christian; Rossmann, Heidi; Helisch, Andreas; Papaspyrou, Konstantinos; Bartsch, Oliver; Mann, Wolf J.; Musholt, Thomas J.; Weber, Matthias M.; Lackner, Karl J.; Schreckenberger, Mathias

doi:10.1007/s00259-013-2346-6

Cited by 18 publications

(16 citation statements)

References 9 publications

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“…18 F-FDOPA PET has been shown to have a sensitivity similar to 18 F-FDG PET, except in the head and neck, where it is superior. 21,25 A high sensitivity for 18 F-FDOPA PET was also described in SDHx mutation carriers, 26 which suggests a possible larger role in the imaging of cardiac PGLs. Overall, based on this study, 18 F-FDG PET may be the most valuable functional imaging modality for evaluation of patients with cardiac PGL, especially due to its wide availability.…”

Section: Discussionmentioning

confidence: 99%

Succinate Dehydrogenase Gene Mutations in Cardiac Paragangliomas

Martucci¹,

Emaminia²,

Rivero³

et al. 2015

The American Journal of Cardiology

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Pheochromocytomas and paragangliomas are chromaffin cell tumors arising from neuroendocrine cells. At least one third of paragangliomas are related to germline mutations in one of 17 genes. While these tumors can occur throughout the body, cardiac paragangliomas are very rare, accounting for less than 0.3% of mediastinal tumors. The purpose of this study was to determine the clinical characteristics of patients with cardiac paragangliomas, particularly focusing on their genetic backgrounds. A retrospective chart analysis of fifteen patients with cardiac paraganglioma was performed to determine clinical presentation, genetic background, diagnostic work-up, and outcomes. The average age at diagnosis was 41.9 years. Typical symptoms of paraganglioma (e.g., hypertension, sweating, palpitations, headache) were reported at initial presentation in 13 patients (86.7%); the remaining 2, as well as 4 symptomatic patients, initially presented with cardiac-specific symptoms (e.g., chest pain, dyspnea). Genetic testing was done in 13 cases (86.7%); 10 (76.9%) were positive for mutations in succinate dehydrogenase (SDHx) subunits B, C, or D. Thirteen cases (86.7%) underwent surgery to remove the paraganglioma with no intraoperative morbidity or mortality; one additional patient underwent surgical resection but experienced intraoperative complications after removal of the tumor due to comorbities and did not survive. SDHx mutations are known to be associated with mediastinal locations and malignant behavior of paragangliomas. In this report, we extend the locations of predominantly SDHx-related paragangliomas to cardiac tumors. In conclusion, cardiac paragangliomas are frequently associated with underlying SDHx germline mutations, suggesting a need for genetic testing of all patients with this rare tumor.

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Section: Discussionmentioning

confidence: 99%

Succinate Dehydrogenase Gene Mutations in Cardiac Paragangliomas

Martucci¹,

Emaminia²,

Rivero³

et al. 2015

The American Journal of Cardiology

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“…132,133 This technique also appears to be particularly effective for patients with SDH mutations and/or biochemically silent PHEO/PGL and may be valuable as a screening technique, particularly for patients with SDHD mutations. 133,134 In a recent large study focusing on tumors missed by FDOPA PET, a high rate of SDH mutations were found, suggesting that patients with false-negative FDOPA PET scans should be tested for these mutations. 135 …”

Section: Diagnosis Of Pheo/pglmentioning

confidence: 99%

Pheochromocytoma and paraganglioma: Diagnosis, genetics, management, and treatment

Martucci¹,

Pacák²

2014

Current Problems in Cancer

171

163

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“…Subsequent studies compared 18 F-FDOPA to other imaging modalites and radiopharmaceuticals across different PGL locations and genotypes (46). 18 F-FDOPA PET/CT was found to be a sensitive (80-90% for abdominal PGLs and >95% for HNPGLs) and specific (95-100%) imaging modality for the detection and staging of non-metastatic PGLs (24, 46-49) (Figures 1-7). 18 F-FDOPA PET was also found to be superior to Octreoscan (24, 47) in the detection of HNPGLs and to be excellent for both SDHx (24) and non-SDHx (48) PGLs.…”

Section: Current Functional Imaging In the Localization Of Hnpglsmentioning

confidence: 99%

Current and Future Trends in the Anatomical and Functional Imaging of Head and Neck Paragangliomas

Taïeb

Varoquaux

Chen

et al. 2013

Seminars in Nuclear Medicine

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Head and neck paragangliomas (HNPGLs) account for approximately 3% of all paragangliomas (PGLs). Most often, HNPGLs are benign, non-secreting, and slowly progressing. The initial physical examination and biochemical diagnosis usually adds very little to the proper diagnosis of these tumors and therefore, radiologists and nuclear medicine physicians play the pivotal role in providing the initial diagnosis, the locoregional staging, and the plan for detecting potential multicentric or metastatic lesions. Based on several current studies, the most accurate use of HNPGL-specific initial and subsequent imaging modalities must be guided by the knowledge of genetics and the specifically measured biochemical profile of these tumors for the proper management of these patients. Thus, this short review article presents the application of the most up-to-date anatomic and functional imaging approaches to HNPGLs tightly linked to the clinical management of these patients. Based on the most recent studies, 18F-FDOPA PET/CT has been shown to be a useful addition to anatomic imaging in the preoperative localization and molecular assessment of HNPGLs. It is estimated that the frequency of metabolically active PGLs on 18F-FDOPA PET/CT in this region is higher than 90%. 18F-FDG PET/CT should be reserved for patients with hereditary PGL syndromes. Imaging of somatostatin receptors using Octreoscan or 68Ga-labeled somatostatin analogs plays an important role for selecting patients for targeted radiation therapy. This review also concludes that it is expected that in the near future, these patients will indeed benefit from new diagnostic approaches based on the identification of new targets by molecular profiling studies that will result in the development of novel PGL specific radiopharamceuticals.

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High incidence of extraadrenal paraganglioma in families with SDHx syndromes detected by functional imaging with [18F]fluorodihydroxyphenylalanine PET

Abstract: FDOPA PET is a sensitive imaging modality which should be offered to patients with a detected SDHx (SDHD) mutation, preferably using a hybrid technique.

Cited by 18 publications

References 9 publications

Succinate Dehydrogenase Gene Mutations in Cardiac Paragangliomas

Succinate Dehydrogenase Gene Mutations in Cardiac Paragangliomas

Pheochromocytoma and paraganglioma: Diagnosis, genetics, management, and treatment

Current and Future Trends in the Anatomical and Functional Imaging of Head and Neck Paragangliomas

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