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Gynecologic Oncology Reports May 2020Paragangliomas are rare neuroendocrine neoplasms derived from sympathetic or parasympathetic paraganglia and have the ability to secrete catecholamines. We present the...
Paragangliomas are rare neuroendocrine neoplasms derived from sympathetic or parasympathetic paraganglia and have the ability to secrete catecholamines. We present the case of a 37-year-old asymptomatic female who underwent right ovarian cystectomy for a mature cystic teratoma and was found to have an intra-tumoral paraganglioma. More research is needed to determine metastatic potential as well as the likelihood of recurrence of these unique neoplasms.
PubMed: 32042879
DOI: 10.1016/j.gore.2020.100537 -
Hormones (Athens, Greece) Sep 2020Defective function of phenylalanine hydroxylase in phenylketonuria (PKU) results in the accumulation of phenylalanine (Phe) and the reduction of tyrosine (Tyr) in the...
PURPOSE
Defective function of phenylalanine hydroxylase in phenylketonuria (PKU) results in the accumulation of phenylalanine (Phe) and the reduction of tyrosine (Tyr) in the blood, interfering in the normal development and function of organs and tissues in the body. Tyr is the precursor of catecholamines, secreted in response to stress by the adrenal medulla and paraganglia. The aim of this study was to evaluate plasma catecholamine and amino acid response to an escalating series of sympathetic stress tests in PKU patients.
METHODS
Twelve males with classical PKU (aged 18-41 years) and ten healthy male controls were included in this study. The subjects were exposed to three different sympathetic stress stimulations: cold pressor, isometric handgrip, and peak treadmill tests to exhaustion. Physiological, metabolic, and hormonal changes were determined.
RESULTS
Aerobic capacity (VO) was significantly lower in the PKU group (p = 0.018); however, relative VO was similar in the two groups during the spiroergometric test. No significant differences in norepinephrine or in epinephrine response were found between the two groups during the different stimulation tests. Blood Phe increased significantly in the PKU group compared with controls (p = 0.027) during the spiroergometric test, while Tyr levels remained stable in both groups.
CONCLUSION
PKU itself might not influence stress-induced catecholamine changes. Only strenuous exercise increased blood Phe levels in PKU subjects.
Topics: Adolescent; Adult; Epinephrine; Humans; Male; Norepinephrine; Phenylalanine; Phenylketonurias; Physical Exertion; Stress, Physiological; Sympathetic Nervous System; Tyrosine; Young Adult
PubMed: 31993977
DOI: 10.1007/s42000-020-00176-z -
Annals of Vascular Surgery Jul 2020Paragangliomas (PGs) are rare neuroendocrine tumors arising from the extra-adrenal autonomic paraganglia that are tiny organs formed by bundles of neuroendocrine cells...
BACKGROUND
Paragangliomas (PGs) are rare neuroendocrine tumors arising from the extra-adrenal autonomic paraganglia that are tiny organs formed by bundles of neuroendocrine cells derived from the embryonic neural crest and capable of catecholamines secretion. Diagnosis and treatment of aortic PGs could be a challenging issue when they present as an emergency setup (sudden abdominal pain and radiological images resembling a vascular emergency).
CASE REPORT
We present a rare case of a 16-year-old man with a symptomatic and bleeding left para-aortic mass, treated in emergency with embolization, before a staged videolaparoscopic resection. Histology of the mass showed the presence of a large aortic PG.
CONCLUSIONS
In case of active bleeding, in emergency, vascular consultants are always involved. Sometimes, circumstances are very atypical; therefore, it is essential to keep in mind rare pathologies. In such settings, multidisciplinary approach is primary to obtain a prompt diagnosis and appropriate treatment.
Topics: Adolescent; Aorta; Embolization, Therapeutic; Hemorrhage; Humans; Laparoscopy; Male; Paraganglioma, Extra-Adrenal; Treatment Outcome; Vascular Neoplasms; Vascular Surgical Procedures; Video-Assisted Surgery
PubMed: 31904513
DOI: 10.1016/j.avsg.2019.12.016 -
Journal of Medical Case Reports Dec 2019Paragangliomas and pheochromocytomas are sympathetic or parasympathetic tumors derived from the paraganglia and the adrenal medulla, respectively. Paragangliomas and...
BACKGROUND
Paragangliomas and pheochromocytomas are sympathetic or parasympathetic tumors derived from the paraganglia and the adrenal medulla, respectively. Paragangliomas and pheochromocytomas can be sporadic or familial, the latter frequently being multifocal and possibly due to succinate dehydrogenase complex genes mutations. In addition, 12% of sporadic paragangliomas are related to covered succinate dehydrogenase complex mutations. The importance of identifying succinate dehydrogenase complex mutations is related to the risk for these patients of developing multiple tumors, including non-endocrine ones, showing an aggressive clinical presentation.
CASE PRESENTATION
We report the case of a 45-year-old Caucasian man with an indolent mass in his neck. Ultrasound of his neck, magnetic resonance imaging, and 1,4,7,10-tetraazacyclododecane-N(I),N(II),N(III),N(IIII)-tetraacetic acid(D)-Phe(1)-thy(3)-octreotide (Ga-DOTATOC) positron emission tomography-computed tomography and endocrine work-up were consistent with a carotid body paraganglioma with concomitant nodal enlargement in several body regions, which turned out to be a follicular lymphoma at histology. He was found to carry a germline Succinate dehydrogenase subunit B gene (SDHB) mutation.
CONCLUSION
It is crucial to look for a second malignancy in the case of a paraganglioma demonstrating succinate dehydrogenase complex germline mutations.
Topics: Adrenal Gland Neoplasms; Germ-Line Mutation; Head and Neck Neoplasms; Humans; Lymphoma, Follicular; Magnetic Resonance Imaging; Male; Middle Aged; Paraganglioma; Succinate Dehydrogenase; Treatment Outcome; Ultrasonography
PubMed: 31856921
DOI: 10.1186/s13256-019-2323-1 -
Case Reports in Endocrinology 2019Phaeochromocytomas and paragangliomas are rare catecholamine-secreting tumours arising from the adrenal medulla or sympathetic paraganglia. It is known that 20-30% of...
Phaeochromocytomas and paragangliomas are rare catecholamine-secreting tumours arising from the adrenal medulla or sympathetic paraganglia. It is known that 20-30% of all cases occur as a result of germline variants in several well known genes. The gene was recently identified as a new phaeochromocytoma susceptibility gene. However, until a larger sample of cases is available, the prevalence, genotype-phenotype correlation, and a clear predominant biochemical pattern of -related PCC, remain to be defined. We present a woman with the pathogenic variant c.86delG (p.Arg29Leus52) in the gene, which has not been previously reported, associated to a bilateral phaeochromocytoma, with an uncommon initial clinical presentation and a biochemical profile that is distinctly adrenergic. Her two young children carry the same variant and are, at present, disease-free. Physicians should be aware that phaeochromocytoma can manifest in an atypical manner, as with episodic hypotension, mainly if the symptoms have no obvious aetiology and they worsen over time. This case also supports the presence of a predominant adrenaline secreting pattern in -positive tumours, as well as the need to consider multigene panel testing in patients with bilateral phaeochromocytomas.
PubMed: 31781416
DOI: 10.1155/2019/2502174 -
Cancers Oct 2019Pheochromocytomas and paragangliomas (PCC/PGLs) are rare, mostly catecholamine-producing neuroendocrine tumors of the adrenal gland (PCCs) or the extra-adrenal... (Review)
Review
Pheochromocytomas and paragangliomas (PCC/PGLs) are rare, mostly catecholamine-producing neuroendocrine tumors of the adrenal gland (PCCs) or the extra-adrenal paraganglia (PGL). They can be separated into three different molecular clusters depending on their underlying gene mutations in any of the at least 20 known susceptibility genes: The pseudohypoxia-associated cluster 1, the kinase signaling-associated cluster 2, and the Wnt signaling-associated cluster 3. In addition to tumor size, location (adrenal vs. extra-adrenal), multiplicity, age of first diagnosis, and presence of metastatic disease (including tumor burden), other decisive factors for best clinical management of PCC/PGL include the underlying germline mutation. The above factors can impact the choice of different biomarkers and imaging modalities for PCC/PGL diagnosis, as well as screening for other neoplasms, staging, follow-up, and therapy options. This review provides a guide for practicing clinicians summarizing current management of PCC/PGL according to tumor size, location, age of first diagnosis, presence of metastases, and especially underlying mutations in the era of precision medicine.
PubMed: 31597347
DOI: 10.3390/cancers11101505 -
Ear, Nose, & Throat Journal Jul 2021Head and neck paraganglioma is a rare neoplasm of the paraganglia. It accounts for <1% of all head and neck tumors. It usually has benign clinical course; however,...
BACKGROUND
Head and neck paraganglioma is a rare neoplasm of the paraganglia. It accounts for <1% of all head and neck tumors. It usually has benign clinical course; however, malignant paraganglioma can only be diagnosed by showing metastatic disease. We undertook a retrospective study to assess the clinical significance of regional lymph nodes metastases in head and neck paragangliomas.
DESIGN
From 1993 to 2016, primary head and neck paragangliomas are identified. The patient clinical and histopathologic materials were reviewed.
RESULTS
Sixty-five specimens from 62 patients (3 patients with more than 1 specimens) with head and neck paragangliomas were recorded (49 female and 13 males) with mean age of 54 (24-78 years). The locations of the tumors were as follows: carotid body: 30, glomus tympanicum: 11, glomus jugulare: 14, parapharyngeal space: 3, and 1 case each of larynx, skull base, paraglottic area, infratemporal fossa, mastoid, cerebellopontine (CP) angle, and pyriform sinus. On histopathology, we found 5 cases of sclerosing variant. Thirty-two (52%) of the 62 patients had regional lymph node biopsy. Four (12%) of the 32 show metastatic paraganglioma (3 females and 1 male with mean age = 35). Two of the 5 cases of sclerosing variant had positive lymph nodes. No evidence of local recurrence or distant metastasis in the patients with positive lymph nodes with a 6 to 11 years follow-up. One of the 28 patients with negative lymph nodes developed metastatic disease to lumbar spine in 5 years.
CONCLUSION
Metastatic paraganglioma to regional lymph nodes may have indolent clinical behavior, with disease-free survival of up to 11 years. The incidence of metastatic disease in lymph nodes was 4 (12%) of 32. Forty percent (2/5) of the cases with sclerosing variant of paraganglioma had lymph node metastases indicating that this tumor may have a more aggressive histological behavior.
Topics: Adult; Aged; Female; Head and Neck Neoplasms; Humans; Lymph Nodes; Lymphatic Metastasis; Male; Middle Aged; Paraganglioma; Retrospective Studies; Sentinel Lymph Node Biopsy; Young Adult
PubMed: 31566000
DOI: 10.1177/0145561319863373 -
Journal of Radiology Case Reports Aug 2019The carotid body is the largest collection of paraganglia in the head and neck and is found on the medial aspect of the carotid bifurcation bilaterally. Carotid body... (Review)
Review
The carotid body is the largest collection of paraganglia in the head and neck and is found on the medial aspect of the carotid bifurcation bilaterally. Carotid body tumors are rare neoplasms arising from the chemoreceptor cells of the carotid bulb. We report a case of carotid body tumor in a 42-year-old female, who presented with painless, pulsatile, gradually progressive lateral neck swelling. The diagnosis is suspected on the basis of history, clinical and radiological examination findings and a successful surgical excision of the tumor is performed. Histopathological examination confirms the diagnosis of carotid body tumor. We also present brief literature about carotid body tumors in terms of its clinical and imaging presentation, evaluation, and management.
Topics: Adult; Carotid Body Tumor; Computed Tomography Angiography; Contrast Media; Female; Humans; Magnetic Resonance Imaging; Tomography, X-Ray Computed; Ultrasonography, Doppler, Color
PubMed: 31558967
DOI: 10.3941/jrcr.v13i8.3681 -
Clinical Endocrinology Dec 2019Nuclear imaging findings by virtue of phenotyping disease heavily depend on genetic background, metabolites, cell membrane specific targets and signalling pathways. PPGL...
OBJECTIVES
Nuclear imaging findings by virtue of phenotyping disease heavily depend on genetic background, metabolites, cell membrane specific targets and signalling pathways. PPGL related to succinate dehydrogenase subunits mutations (SDHx mutations) are less differentiated than other subgroups and therefore may lack to concentrate F-FDOPA, a precursor of catecholamines biosynthesis. However, this F-FDOPA negative phenotype has been reported mostly in SDHx-PPGL of sympathetic origin, suggesting that both genotype status and location (from sympathetic vs parasympathetic paraganglia; adrenal vs extra-adrenal) could influence F-FDOPA uptake. The aim of this study was to test if SDHx drives F-FDOPA uptake in presence of normal epinephrine/norepinephrine concentrations.
DESIGN
Retrospective study PATIENTS: A cohort of 86 head and neck PPGL patients (including three metastatic) with normal metanephrines underwent F-FDOPA PET/CT. The relationships between F-FDOPA uptake and tumour genotype were evaluated.
RESULTS
In nonmetastatic HNPGL (50 non-SDHx/33 SDHx), no significant difference was observed between these two groups for SUVmax (P = .256), SUVmean (P = .188), MTV 42% (P = .596) and total lesion uptake (P = .144). Metastatic HNPGL also had high elevated uptake values.
CONCLUSIONS
Our results suggest that SDH deficiency or metastatic behaviour have no influence on F-FDOPA uptake in HNPGL probably due to their very-well differentiation status, even at metastatic stage. The potential prognosticator value of F-FDOPA uptake would need to be further explored in the setting of metastatic PPGL of sympathetic origin.
Topics: Adult; Female; Genotype; Head and Neck Neoplasms; Humans; Male; Middle Aged; Mutation; Paraganglioma; Positron Emission Tomography Computed Tomography; Radionuclide Imaging; Retrospective Studies; Succinate Dehydrogenase
PubMed: 31479526
DOI: 10.1111/cen.14086