Catecholamine-secreting Paraganglioma Research Articles

THU523 A Rare Case Of Functional Cervical Paraganglioma: Case Report

Abstract Disclosure: V.D. Oliveira: None. G.C. Vaccarezza: None. A.E. Vieira: None. N.M. Scalissi: None. A.R. dos Santos: None. P.R. Lazarini: None. A.B. Suehara: None. C. Olivati: None. J.V. Lima: None. INTRODUCTION: Head and neck paragangliomas (HNPGL) are rare tumors arising from cells associated with parasympathetic ganglia. Catecholamine hypersecretion is founded in less than 5% of the patients. Evidence is growing that about 50% of the HNPGL are associated with hereditary syndromes. CASE REPORT: Male patient, 34 years old, previously healthy, presented with a 1-year history of jaw pain and hypoacusis, associated with progressive symptoms of dysphagia, facial paralysis, dysphonia and hoarseness. He also had a 2-month history of hypertension and palpitations. On physical examination, the patient had deficits in cranial nerves (CN) VII, VIII, IX, X, XI and XII and blood pressure of 150x90mmHg. Head and neck MRI showed an expansive lesion occupying the right jugular foramen extending above the cistern at the cerebellopontine angle and below the carotid space in the ipsilateral infratemporal fossa, reaching 50% of the internal carotid artery and extending into the right internal auditory canal, suggestive of glomus jugulare paraganglioma. Laboratory examination showed normetanephrines 9.1 mmol/L (VR < 0.9), confirming catecholamine-secreting paraganglioma. Next Generation Sequence (NGS) genetic testing evaluating 24 genes (ATM, DLST, EGLN1, EGLN2, FH, EPAS1 (HIF2A), HRAS, KIF1B , MAX, MDH2, MEN1 , MERTK , MET, NF1, RET, SLC25A11, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53 and VHL) was positive for the pathogenic variant c.166_170del:p.(Pro56Tyfs*5) of the SHDB gene. Patient with no family history of paraganglioma. Alpha-adrenergic blockade was started with doxazosin and, after two weeks, beta-adrenergic blockade with propranolol. After 3 months, he underwent preoperative embolization 48 hours before surgery with total tumor resection. Patient did not require antihypertensive drugs after surgery. CONCLUSIONS: We reported a case of a young patient diagnosed with catecholamine secreting HNPGL that carries pathogenic variant of SHDB. Presentation: Thursday, June 15, 2023

Endoscopic Resection of Functional Paraganglioma of the Pterygopalatine Fossa: A Case Report

Functional paraganglioma is a rare tumor that secretes the catecholamine which is able to cause secondary hypertension. Surgical resection is the only curative treatment modality for this tumor, which can correct the secondary hypertension. The pterygopalatine fossa is a small retromaxillary space which contains a neurovascular bundle that crosses the middle cranial fossa to the nasal cavity, nasal septum, and oral cavity. To our knowledge, two cases have been reported for functional paraganglioma involving the pterygopalatine fossa removed by surgery. We present a patient who had a catecholamine-secreting paraganglioma in the pterygopalatine fossa, which is the first case successfully resected with an endoscopic approach.

Unusual Case of Autoimmune Diabetes Mellitus in the Setting of Extra-Adrenal Paraganglioma with Loss of Succinate Dehydrogenase Expression

ABSTRACT Objective: To report a case of a catecholamine-secreting paraganglioma with possible tumor-dependent autoimmune diabetes mellitus. Methods: We present the imaging, laboratory, and pathologic findings and describe the clinical course of a patient with a norepinephrine-secreting aortic paraganglioma with succinate dehydrogenase deficiency who was concomitantly diagnosed with latent autoimmune diabetes of adults at the time of initial diagnosis. We performed immunohistochemistry on the paraganglioma tissue for glutamic acid decarboxylase-65 (GAD65). Results: A 55-year-old man was diagnosed with a retroperitoneal, norepinephrine-secreting paraganglioma. He was concomitantly found to have elevated serum glucose levels and positive anti-GAD65 antibodies, consistent with latent autoimmune diabetes of adults, and was started on a basal-bolus insulin regimen. Surgical removal of the tumor resulted in rapid improvement of his hypertension and glycemic control, eliminating the need for insulin therapy withi...

Pheochromocytoma in Denmark during 1977-2016: validating diagnosis codes and creating a national cohort using patterns of health registrations.

BackgroundPheochromocytoma and catecholamine-secreting paraganglioma (PPGL) are rare but potentially life-threatening tumors. We aimed to validate diagnosis codes for PPGL in the Danish National Patient Registry, the Danish National Pathology Registry, and the Danish Registry of Causes of Death and to create a national cohort of incident PPGL patients by linking these three registries.Patients and methodsWe obtained data from the three abovementioned registries for all individuals registered with pheochromocytoma or catecholamine hypersecretion in Denmark during 1977–2016 (average population 5.30 million). We then reviewed health records for all individuals living in the North Denmark Region and Central Denmark Region (average population 1.75 million) to validate the diagnosis of PPGL. We tested a number of algorithms for accurately identifying true cases of PPGL to maximize positive predictive values (PPVs) and completeness. The best algorithm was subsequently validated in an external sample.ResultsWe identified 2626 individuals with a PPGL diagnosis code in Denmark, including 787 (30.0%) in the North Denmark Region and Central Denmark Region. In this subsample, we retrieved the health records of 771/787 (98.0%) individuals and confirmed 198 incident PPGL patients (25.3%). The PPV of PPGL diagnosis codes was 21.7% in the Danish National Patient Registry, 50.0% in the Danish Registry of Causes of Death, and 79.5% in the Danish National Pathology Registry. By combining patterns of registrations in the three registries, we could increase the PPV to 93.1% (95% confidence interval [CI]: 88.5–96.3) and completeness to 88.9% (95% CI: 83.7–92.9), thus creating a national PPGL cohort of 588 patients. PPV for the optimal algorithm was 95.3% (95% CI: 88.5–98.7) in the external validation sample.ConclusionDiagnosis codes for pheochromocytoma had low PPV in several individual health registries. However, with a combination of registries we were able to identify a near-complete national cohort of PPGL patients in Denmark, as a valuable source for epidemiological research.

Perioperative anesthetic management of a patient with catecholamine-secreting paraganglioma -A case report-

Perioperative anesthetic management of a patient with catecholamine-secreting paraganglioma -A case report-

More Common than You Would Think: A Case of Catecholamine-Secreting Paraganglioma in the Urinary Bladder

A 57-year-old woman presented with headache, palpitations and hypertension associated with micturition and was found to have a bladder tumour on imaging. During cystoscopy, with manipulation of the mass, the patient became symptomatic and hypertensive, and a catecholamine-secreting paraganglioma was suspected. Biochemical testing confirmed the diagnosis of paraganglioma of the urinary bladder and she underwent successful resection after preoperative treatment with alpha- and beta-adrenergic blockade and volume expansion. In this article, we outline the prevalence of extra-adrenal paragangliomas and their possible genetic basis. We also overview the diagnosis, perioperative management, follow-up testing and prognosis of these tumours.

A Boy With Sudden Headache

Headache is a common presenting complaint in pediatric emergency departments. The goal of emergent evaluation is to identify those children with potentially life-threatening conditions. We present the case of an adolescent boy presenting with headache and hypertension who was diagnosed with a catecholamine-secreting abdominal paraganglioma. Genetic testing eventually led to the diagnosis of SDHB-related hereditary paraganglioma-pheochromocytoma syndrome. Alarm features ("red flags") in children presenting with headache are reviewed, as well as the main features of paragangliomas and the indications for genetic testing.

Extensive hypermetabolic pattern of brown adipose tissue activation on 18F-FDG PET/CT in a patient diagnosed of catecholamine-secreting para-vesical paraganglioma

The widespread use of (18)F-FDG PET-CT scanning in oncological patients has allowed to demonstrate the existence of metabolically active brown fat, also called brown adipose tissue (BAT), in adult humans, and specifying its anatomical distribution in vivo. As physiological determinants to BAT (18)F-FDG uptake has been identified gender, age, temperature, and body mass index. We have observed extensive activation of the BAT, including the mesenteric region, in a patient with a catecholamine-secreting para-vesical paranganglioma. The extensive BAT activation could be secondary to adrenergic stimulation due to excess of circulating norepinephrine concentration.

Performance of Plasma Fractionated free Metanephrines by Enzyme Immunoassay in the Diagnosis of Pheochromocytoma and Paraganglioma

To study the performance of measuring plasma fractionated free metanephrines by enzyme immunoassay (EIA) in the diagnosis of pheochromocytoma and catecholamine-secreting paraganglioma. Consecutive patients attending the endocrine clinic at King Edward Memorial Hospital, Mumbai, India, for suspicion of catecholamine-secreting tumors were included. Plasma fractionated free metanephrines were measured by EIA, and computed tomography of the neck, chest, abdomen, and pelvis was performed. Those with tumor identified by imaging underwent 131I m-iodobenzylguanidine scintigraphy. All patients with adrenal masses larger than 3 cm and patients with secretory tumors, irrespective of their size, underwent tumor excision. The rest were followed up for 6 to 12 months. One hundred patients with a clinical suspicion of pheochromocytoma or paraganglioma were included. Plasma free normetanephrine alone had a sensitivity of 94.1% (cutoff: 180 ng/mL), while plasma free metanephrine had a sensitivity of 14.7% (cutoff: 90 pg/mL). Both had 96.9% specificity. When combined (either test positive), the sensitivity was 94.1% with a specificity of 93.75%. Thirty-four patients had a histopathologically proven pheochromocytoma or paraganglioma. It was concluded that 66 patients did not harbor a pheochromocytoma or catecholamine-secreting paraganglioma. Plasma fractionated free metanephrines measured by EIA have good sensitivity and specificity in the diagnosis of pheochromocytoma and catecholamine-secreting paraganglioma.

Catecholamine-Secreting Paraganglioma of the Thoracic Spinal Column

Paragangliomas are rare tumors of neuroendocrine origin that arise from paraganglionic tissue of the extrachromaffin cell system. These lesions may be seen at various sites along the neuraxis. Primary thoracic paragangliomas have rarely been reported in the literature, with secretory thoracic lesions being exceedingly rare as only 3 previous cases have been cited. A 49-year-old woman presented with episodes of hypertension, palpitations, and diaphoresis. Workup revealed positive urine catecholamines and a thoracic spine mass extending into the thoracic apex. Preoperative α-blockade with phenoxybenzamine was used followed by posterior decompression and tumor resection. Arthrodesis from C5 to T4 was subsequently performed, and the patient received postoperative radiation. Two years postoperatively, the patient has continued to have regression of her symptoms. We report a rare case of a catecholamine-secreting primary thoracic paraganglioma in a 49-year-old woman. These tumors should be treated carefully by the neurosurgeon with preoperative assistance from endocrinology for α-blockade, followed by gross total resection and postoperative radiation if residual tumor remains.

Hypertension and a Large pulsatile neck mass: A Case of Malignant Glomus Vagale Tumour.

This teaching case report represents an unusual example of a neck mass in a previously healthy individual. The presence of a new neck mass is a relatively common head and neck problem and requires a full work up including a complete history and physical examination. With respect to our patient, thorough history taking, physical examinations and specific investigations led to the diagnosis of a malignant and functionally active paraganglioma.Vagal paraganglioma themselves are rare tumours and account for only 5-25% of all paragangliomas in the head and neck region. The presence of a malignant, functionally active, catecholamine-secreting paraganglioma is even rarer and accounts for only 1-3% of all reported glomus vagale tumours.This case report illustrates the need to carefully monitor all neck masses for changes in size, for any distortion to surrounding structures, and their given function.

Management of a Catecholamine-Secreting Paraganglioma Requiring Aortic Reconstruction

Retroperitoneal paragangliomas are rare extraadrenal pheochromocytomas that can involve major vascular structures. A case of periaortic catecholamine-secreting paraganglioma was reviewed and literature search performed to summarize the current surgical management of this disease process. Resection for cure of retroperitoneal paragangliomas with vascular reconstruction can be performed with acceptable morbidity and mortality with the use of current vascular techniques.

Sporadic Paraganglioma

Paraganglioma are rare chromaffin cell tumors that develop from the neural crest cells. Parasympathetic ganglia-derived tumors are found almost exclusively in the neck and skull base and typically do not secrete catecholamines. In contrast, most sympathetic ganglia-derived tumors are found in the abdomen and produce an excess of catecholamines. Those grow within the adrenal medulla and are known as pheochromocytoma. Other sympathetic paragangliomas are also known as extra-adrenal pheochromocytomas. They arise outside of the adrenal gland and can be found anywhere along the sympathetic chain from the base of the skull and neck (5% of cases) to the bladder and prostate gland (10%). We use the term paraganglioma to refer to extra-adrenal tumors and pheochromocytoma to refer to intra-adrenal tumors. The majority of sympathetic paragangliomas are familial, commonly associated with the SDHB and SDHD gene mutations. Many are malignant. Medical management of catecholamine-secreting paraganglioma is the same as for pheochromocytoma. Favorably located abdominal paragangliomas can be safely resected laparoscopically, but the operation is technically more challenging than that for adrenalectomy.

Undiagnosed catecholamine-secreting paraganglioma and coexisting carcinoid in a patient with MH susceptibility: an unusual anesthetic challenge

The management of a patient with two undiagnosed neuroendocrine tumors and possible malignant hyperthermia (MH) susceptibility poses a unique challenge to the anesthesiologist. We describe a total intravenous anesthetic including an alpha 2-agonist infusion combined with epidurally administered bupivacaine for intra- and postoperative pain management. Alpha 2-agonists may offer improved intraoperative hemodynamic management in patients with catecholamine-secreting tumors and reduce the total dose needed for intravenous anesthetics such as propofol. The latter mechanism may be useful to avert the risk of the propofol infusion syndrome occurring as a consequence of a high cumulative dose following its prolonged administration.

Peripartum Hypertension from Pheochromocytoma: A Rare and Challenging Entity

Pheochromocytoma, a rare and usually curable cause of hypertension, is characterized by symptoms and signs related to increased catecholamine secretion. Pregnancy can elicit clinical manifestations of otherwise unrecognized pheochromocytoma. Four women, ranging in age from 27 to 37 years, were referred to the hypertension clinic with the following presentations: 1) a 35-year-old woman, diagnosed with gestational hypertension and headaches during the third trimester of her pregnancy and 5 months after delivery, was hospitalized with pulmonary edema. Echocardiography revealed severe dilated left ventricular (LV) dysfunction. Cardiac function was normalized after surgical resection of a pheochromocytoma from her left adrenal; 2) a 37-year-old woman suffered from preeclampsia, persistent hypertension and orthostatic hypotension after a cesarean section. A diagnostic work-up revealed a catecholamine-secreting paraganglioma in the retroperitoneum. The patient underwent a laparosopic resection of the tumor; 3) a 27-year-old woman suffered from hypertension and episodes of palpitations, sweating, and dyspnea in the first trimester of her pregnancy. An ultrasound revealed a 5-cm mass in the left adrenal. She underwent a left adrenalectomy at the 17th week of pregnancy, which confirmed the diagnosis of pheochromocytoma; 4) a 34-year-old woman, at the 26th week of pregnancy, presented with an acute loss of vision and blood pressure of 230/140 mm Hg. Fundoscopy showed papilledema with soft exudates in both eyes. Chemical studies were positive and imaging revealed a left adrenal pheochromocytoma. Despite aggressive medical treatment, fetal distress mandated a laparotomy at the end of the 28th week of pregnancy. A healthy newborn was delivered and resection of the adrenal tumor confirmed the diagnosis of pheochromocytoma. Although rare, pheochromocytoma can cause severe peripartum hypertension. Screening for pheochromocytoma, ideally with plasma-free metanephrines, should be considered in cases of peripartum hypertension.

Endosonographic diagnosis of recurrent gastrointestinal stromal tumors associated with Carney’s syndrome

This is a report of a patient who manifests all of the features of Carney's syndrome, including gastrointestinal stromal tumors (GISTs), extra-adrenal paragangliomas, and pulmonary chondromas. The patient underwent surgical resection of a gastric GIST; a retroperitoneal, nonfunctional paraganglioma; and a mediastinal, catecholamine-secreting paraganglioma (pheochromocytoma). Recently, new gastric GISTs were diagnosed by endoscopic, ultrasound-guided, fine-needle aspiration (EUS-FNA) biopsy and were resected. Recurrence of stromal tumors following complete resection is common in Carney's syndrome and presents considerable management challenges. This case illustrates several important points: (1) Carney's syndrome, although rare, should be considered in patients with foregut GISTs; (2) GISTs associated with Carney's syndrome, like sporadic gastric GISTs, may have a more indolent clinical course; and (3) EUS-FNA may be useful for the diagnosis and management of GISTs in this syndrome.

Catecholamine-secreting paraganglioma. The problem of classification

Catecholamine-secreting paraganglioma. The problem of classification