scholarly journals Clinical aspects of SDHx-related pheochromocytoma and paraganglioma

2009 ◽  
Vol 16 (2) ◽  
pp. 391-400 ◽  
Author(s):  
Henri J L M Timmers ◽  
Anne-Paule Gimenez-Roqueplo ◽  
Massimo Mannelli ◽  
Karel Pacak
Keyword(s):  
Head And Neck ◽  
Susceptibility Gene ◽  
Clinical Aspects ◽  
Apoptosis Resistance ◽  
Neuronal Precursor Cells ◽  
Positron Emission ◽  
Genes Encoding ◽  
Head And Neck Paragangliomas ◽  
Chromaffin Tissue

Paragangliomas (PGLs) derive from either sympathetic chromaffin tissue in adrenal and extra-adrenal abdominal or thoracic locations, or from parasympathetic tissue of the head and neck. Mutations of nuclear genes encoding subunits B, C, and D of the mitochondrial enzyme succinate dehydrogenase (SDHB 1p35-p36.1, SDHC 1q21, SDHD 11q23) give rise to hereditary PGL syndromes PGL4, PGL3, and PGL1 respectively. The susceptibility gene for PGL2 on 11q13.1 remains unidentified. Mitochondrial dysfunction due to SDHx mutations have been linked to tumorigenesis by upregulation of hypoxic and angiogenesis pathways, apoptosis resistance and developmental culling of neuronal precursor cells. SDHB-, SDHC-, and SDHD-associated PGLs give rise to more or less distinct clinical phenotypes. SDHB mutations mainly predispose to extra-adrenal, and to a lesser extent, adrenal PGLs, with a high malignant potential, but also head and neck paragangliomas (HNPGL). SDHD mutations are typically associated with multifocal HNPGL and usually benign adrenal and extra-adrenal PGLs. SDHC mutations are a rare cause of mainly HNPGL. Most abdominal and thoracic SDHB-PGLs hypersecrete either norepinephrine or norepinephrine and dopamine. However, only some hypersecrete dopamine, are biochemically silent. The biochemical phenotype of SDHD-PGL has not been systematically studied. For the localization of PGL, several positron emission tomography (PET) tracers are available. Metastatic SDHB-PGL is the best localized by [18F]-fluorodeoxyglucose PET. The identification of SDHx mutations in patients with PGL is warranted for a tailor-made approach to the biochemical diagnosis, imaging, treatment, follow-up, and family screening.

Radiology of the head and neck

2021 ◽  
pp. 973-976
Author(s):  
Ivan Zammit-Maempel
Keyword(s):  
Head And Neck ◽  
Imaging Techniques ◽  
Cone Beam Ct ◽  
Neck Mass ◽  
Positron Emission ◽  
Pet Ct ◽  
Magnetic Resonance Imaging Mri ◽  
Video Fluoroscopy

Various imaging techniques are used in the staging and follow-up of head and neck cancer and evaluating patients presenting with a neck mass. The workhorses in imaging the neck are ultrasonography, computed tomography (CT), and magnetic resonance imaging (MRI) with positron emission tomography CT (PET-CT) increasingly being requested. Plain radiographs, contrast studies, video fluoroscopy, angiography, and cone beam CT have limited but important roles. This chapter discusses the role of some of these modalities.

scholarly journals Tinnitus With Unexpected Spanish Roots: Head and Neck Paragangliomas Caused by SDHAF2 Mutation

2020 ◽  
Vol 4 (3) ◽  
Author(s):  
Laura Maria Roose ◽  
Niels J Rupp ◽  
Christof Röösli ◽  
Nadejda Valcheva ◽  
Achim Weber ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Head And Neck ◽  
Carotid Body ◽  
Loss Of Function ◽  
Negative Family History ◽  
Paraganglioma Syndrome ◽  
Plasma Free Metanephrines ◽  
The Right ◽  
Head And Neck Paragangliomas

Abstract It is estimated that up to 40% of all head and neck paragangliomas (HNPGL) have a hereditary background with the most common mutations being found in the succinate dehydrogenase (SDH) genes. SDHAF2 mutation leads to the rare paraganglioma syndrome 2. The authors present the case of a 15-year-old male patient with 2, non-secretory HNPGLs, presenting with left-sided, pulsatile tinnitus, and hearing loss. Imaging led to the suspicion of a jugulotympanic paraganglioma on the left, as well as a carotid body tumor on the right. After resection of the jugulotympanic tumor, histology confirmed the presence of a paraganglioma; immunohistochemistry furthermore suggested a loss of SDHB expression. Genetic testing revealed a rare germline, loss-of-function mutation in the SDHAF2 gene, previously described to cause hereditary paraganglioma syndrome 2. Twenty months after the first operation, the patient underwent a resection of the right carotid body paraganglioma. Plasma-free metanephrines/catecholamines always remained within the reference range; the patient is under regular follow-up, and his relatives will be screened. Our findings emphasize the relevance of genetic testing in patients with HNPGL, also with negative family history, especially when the patients present at a young age and with multiple lesions.

Developments in Digestive Tract Neuroendocrine Tumours and Pheochromocytomas/Paragangliomas – A Narrative Review

2010 ◽  
Vol 6 (2) ◽  
pp. 59
Author(s):  
Ioannis Ilias ◽  
Karel Pacak ◽  
◽  
Keyword(s):  
Functional Imaging ◽  
Neuroendocrine Tumours ◽  
Advanced Disease ◽  
Somatostatin Analogues ◽  
New Drugs ◽  
Resonance Imaging ◽  
Positron Emission ◽  
Magnetic Resonance Imaging Mri ◽  
Head And Neck Paragangliomas

Digestive neuroendocrine tumours (carcinoids) derive from serotonin-producing enterochromaffin cells. Biochemical screening (and follow-up) is performed with measurements of 5-hydroxyindoloacetic acid in urine. Other markers are also useful. Most digestive neuroendocrine tumours are better localised with functional imaging, i.e. nuclear medicine, compared with other modalities. The treatment of choice is surgical; non-resectable tumours are treated with somatostatin analogues (unlabelled and for more advanced disease radiolabelled) or chemotherapy. Most pheochromocytomas/paragangliomas are sporadic, however, and genetically caused tumours are much more common than previously thought. Biochemical proof of disease is best carried out with measurement of plasma metadrenaline. Imaging with computed tomography or magnetic resonance imaging (MRI) should be followed by functional imaging. Chromaffin tumour-specific methods are preferred.18F-fluoro-deoxyglucose positron emission tomography (18F-DOPA PET) should be used in patients with succinate-dehydrogenase-B-related metastatic pheochromocytoma/paraganglioma.18F-DOPA PET may become a modality of choice for the localisation of head and neck paragangliomas. If possible, treatment is surgical. For non-operable disease, other options are available and new drugs are under investigation or in clinical trials.

scholarly journals Head and Neck Paragangliomas in the Czech Republic: Management at the Otorhinolaryngology Department

Diagnostics ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 28
Author(s):  
Anasuya Guha ◽  
Martin Chovanec
Keyword(s):  
Head And Neck ◽  
Cranial Nerve ◽  
Case Series ◽  
Clinical Aspects ◽  
Benign Tumors ◽  
Tumor Control ◽  
Cranial Nerve Dysfunction ◽  
Critical Issues ◽  
Head And Neck Paragangliomas ◽  
Jugular Paragangliomas

Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, comprising only 3% of all head and neck tumors. Early diagnosis forms an integral part of the management of these tumors. The two main aims of any treatment approach are long-term tumor control and minimal cranial nerve morbidity. The scope of this article is to present our case series of HNPGLs to stress most important clinical aspects of their presentation as well as critical issues of their complex management. Thirty patients with suspected HNPGLs were referred to our otorhinolaryngology clinic for surgical consultation between 2016–2020. We assessed the demographical pattern, clinicoradiological correlation, as well as type and outcome of treatment. A total of 42 non-secretory tumors were diagnosed—16.7% were incidental findings and 97% patients had benign tumors. Six patients had multiple tumors. Jugular paragangliomas were the most commonly treated tumors. Tumor control was achieved in nearly 96% of operated patients with minimal cranial nerve morbidity. Surgery is curative in most cases and should be considered as frontline treatment modality in experienced hands for younger patients, hereditary and secretory tumors. Cranial nerve dysfunction associated with tumor encasement is a negative prognostic factor for both surgery and radiotherapy. Multifocal tumors and metastasis are difficult to treat, even with early detection using genetic analysis. Detecting malignancy in HNPGLs is challenging due to the lack of histomorphological criteria; therefore, limited lymph node dissection should be considered, even in the absence of clinical and radiological signs of metastasis in carotid body, vagal, and jugular paragangliomas.

scholarly journals Positron Emission Tomography in the Early Follow-up of Advanced Head and Neck Cancer

2004 ◽  
Vol 130 (1) ◽  
pp. 105 ◽  
Author(s):  
Gerhard W. Goerres ◽  
Daniel T. Schmid ◽  
Florian Bandhauer ◽  
Pia U. Huguenin ◽  
Gustav K. von Schulthess ◽  
...  
Keyword(s):  
Positron Emission Tomography ◽  
Head And Neck Cancer ◽  
Head And Neck ◽  
Neck Cancer ◽  
Emission Tomography ◽  
Advanced Head ◽  
Positron Emission

The Changing Paradigm of Head and Neck Paragangliomas: What Every Otolaryngologist Needs to Know

2020 ◽  
Vol 129 (11) ◽  
pp. 1135-1143
Author(s):  
Nathan D. Cass ◽  
Melissa A. Schopper ◽  
Jonathan A. Lubin ◽  
Lauren Fishbein ◽  
Samuel P. Gubbels
Keyword(s):  
Head And Neck ◽  
Susceptibility Gene ◽  
Tumor Development ◽  
Gene Mutations ◽  
Whole Body ◽  
Whole Body Imaging ◽  
Biochemical Testing ◽  
Multifocal Disease ◽  
Hereditary Pheochromocytoma ◽  
Head And Neck Paragangliomas

Background: Recommendations regarding head and neck paragangliomas (HNPGL) have undergone a fundamental reorientation in the last decade as a result of increased understanding of the genetic and pathophysiologic basis of these disorders. Objective: We aim to provide an overview of HNPGL and recent discoveries regarding their molecular genetics, along with updated recommendations on workup, treatment, and surveillance, and their implications for otolaryngologists treating patients with these disorders. Results: SDHx susceptibility gene mutations, encoding subunits of the enzyme succinate dehydrogenase (SDH), give rise to the Hereditary Pheochromocytoma/Paraganglioma Syndromes. SDHA, SDHB, SDHC, SDHD, and SDHAF2 mutations each result in unique phenotypes with distinct penetrance and risk for variable tumor development as well as metastasis. Genetic and biochemical testing is recommended for every patient with HNPGL. Multifocal disease should be managed in multi-disciplinary fashion. Patients with SDHx mutations require frequent biochemical screening and whole-body imaging, as well as lifelong follow-up with an expert in hereditary pheochromocytoma and paraganglioma syndromes. Conclusion: Otolaryngologists are likely to encounter patients with HNPGL. Keeping abreast of the latest recommendations, especially regarding genetic testing, workup for additional tumors, multi-disciplinary approach to care, and need for lifelong surveillance, will help otolaryngologists appropriately care for these patients.

scholarly journals Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Alejandro Terrones-Lozano ◽  
Alan Hernández-Hernández ◽  
Edgar Nathal Vera ◽  
Gerardo Yoshiaki Guinto-Nishimura ◽  
Jorge Luis Balderrama-Bañares ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Head And Neck ◽  
Germline Mutation ◽  
Germline Mutations ◽  
Current Approach ◽  
Genetic Syndromes ◽  
Pet Ct ◽  
History Of ◽  
Head And Neck Paragangliomas

Introduction. Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal autonomic paraganglia, respectively. Only 1–3% of head and neck PGL (HNPGL) show elevated catecholamines, and at least 30% of Pheo and PGL (PCPG) are associated with genetic syndromes caused by germline mutations in tumor suppressor genes and proto-oncogenes. Clinical Case. A 33-year-old man with a past medical history of resection of an abdominal PGL at the age of eleven underwent a CT scan after a mild traumatic brain injury revealing an incidental brain tumor. The diagnosis of a functioning PGL was made, and further testing was undertaken with a PET-CT with 68Ga-DOTATATE, SPECT-CT 131-MIBG, and genetic testing. Discussion and Conclusion. The usual clinical presentation of functioning PCPG includes paroxistic hypertension, headache, and diaphoresis, sometimes with a suggestive family history in 30–40% of cases. Only 20% of PGL are located in head and neck, of which only 1–3% will show elevated catecholamines. Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. Genetic testing is important in patients with PCPG since 31% will present a germline mutation. In this particular patient, an SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG.

scholarly journals Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas

2005 ◽  
Vol 152 (1) ◽  
pp. 87-94 ◽  
Author(s):  
W H van Houtum ◽  
E P M Corssmit ◽  
P B Douwes Dekker ◽  
J C Jansen ◽  
A G L van der Mey ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Head And Neck ◽  
Histopathological Examination ◽  
Positive Family History ◽  
Mibg Scintigraphy ◽  
Resonance Imaging ◽  
Catecholamine Excess ◽  
Head And Neck Paragangliomas

Objective: The aim of this study was to identify the prevalence of catecholamine excess and phaeochromocytomas in a well-defined population of people with hereditary head and neck paragangliomas. Methods: We studied in a prospective follow-up protocol all consecutive patients referred to the Department of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands with documented head and neck paragangliomas and either a positive family history for paragangliomas or a proven SDHD gene mutation. Initial analysis included medical history, physical examination and the measurement of excretion of catecholamines in two 24-h urine collections. In the case of documented catecholamine excess iodinated meta-iodobenzylguanidine (123I-MIBG) scintigraphy and magnetic resonance imaging were done. Results: Between 1988 and 2003, 40 consecutive patients (20 male and 20 female) with documented head and neck paragangliomas were screened. Biochemical screening revealed urinary catechol-amine excess in 15 patients (37.5%). In nine of these 15 patients a lesion was found by 123I-MIBG scintigraphy. Exact localization by magnetic resonance imaging revealed phaeochromocytomas in seven of the 15 patients. One of the nine patients had an extra-adrenal paraganglioma. Histopathological examination in a subset of tumors displayed loss of heterozygosity of the wild-type SDHD allele in all cases. Conclusions: The prevalence of catecholamine excess (37.5%) and phaeochromocytomas (20.0%) is high in patients with familial head and neck paragangliomas. Therefore, patients with hereditary head and neck paragangliomas require lifelong follow up by biochemical testing for catecholamine excess.

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