Paraganglioma Presenting Research Articles

7576 A Rare and Atypical Presentation of Bladder Paraganglioma in a Patient on Long-Term Left Ventricular Assist Device

Abstract Disclosure: S.D. Leungsuwan: None. S.J. Lee: None. S.D. Lim: None. L. Loh: None. Background: Paragangliomas (PGLs) are rare neuroendocrine tumors arising from chromaffin cells. Capable of producing catecholamines, functional PGLs often cause a myriad of autonomic symptoms and complications, including cardiomyopathy. We report a case of bladder PGL in a patient on Left Ventricular Assist Device (LVAD). Clinical Case: A 64-year-old Chinese Female with a history of non-ischaemic cardiomyopathy on long-term continuous LVAD and Cardiac Resynchronisation Therapy Defibrillator (CRT-D) was admitted for recurrent low LVAD flow <2 Litres per minute and labile mean arterial pressure (MAP) 57-151mmHg. She has been on long-term Nebivolol, Entresto, Hydralazine, and Sildenafil without recent dose adjustment. Workup for acute illnesses was non-contributory. 24-hour urine metanephrine and normetanephrine (NM) were 939nmol/d [normal 400-1500nmol/d] and 33883nmol/d [normal 600-1900nmol/d] respectively. Plasma free metanephrine and NM were 0.37nmol/L [normal <0.33nmol/L] and >10.00nmol/L [normal <0.99nmol/L] accordingly. A review of previous ultrasonography and Computed Tomography (CT) imaging revealed a right adnexal mass indenting the bladder which the patient formerly declined further assessment; adrenal glands were normal. FDG-PET CT was done and showed an isolated focus of increased tracer uptake corresponding with the right pelvic mass. An impression of likely bladder PGL was made. A multidisciplinary team including Cardiology, Anaesthesiology, Interventional Radiology (IR), Urology, Gynaecology, and Endocrinology was convened; the patient was recommended surgical resection of the tumor. Preoperatively, she was started on phenoxybenzamine 10mg BD and advised judicious fluid and salt intake. Nebivolol was continued while hydralazine was stopped. This achieved targets of i) MAP 70-80mmHg, ii) approximately 10mmHg MAP postural fluctuation, iii) sitting and standing heart rates 60-70 beats-per-minute (BPM) and 70-80BPM, and iv) no more than 1 PVC every 5 minutes. Two weeks later, she underwent IR-guided angioembolisation and tumor resection uneventfully. Intraoperatively, the patient had haemodynamic fluctuations requiring dynamic administrations of phentolamine, norepinephrine, epinephrine, vasopressin, glyceryl trinitrate, and sodium nitroprusside. Histopathology was consistent with PGL with intact SDH-A and SDH-B expression. Postoperatively, phenoxybenzamine was discontinued and no recurrent LVAD low flow was noted. Subsequent plans for repeat plasma metanephrines and genetic studies were made. Discussion: This case is the first to report an atypical presentation of PGL with LVAD low flow and labile blood pressure. The significant elevations of urine NM (17.8x upper normal limit) and plasma NM (>10.1x upper normal limit) also underline the concept of fold-elevations and post-test probability of PGL. Presentation: 6/3/2024

8081 Case report of sympathetic paraganglioma presenting as chronic catecholamine induced cardiomyopathy

Abstract Disclosure: Z. Tan: None. A. Taiwo: None. Background: Sympathetic paragangliomas are rare neuroendocrine tumors (<1/100,000) arising from extra-adrenal autonomic paraganglia, generally in the thorax, abdomen, and pelvis. They secrete catecholamines predominantly norepinephrine, which can cause a rare complication of catecholamine-induced cardiomyopathy. Clinical Case: A 33-year-old male, with history of obesity and borderline hypertension not on medication, presented with dyspnea on exertion, worsening paroxysmal nocturia dyspnea of 1 month duration and sudden onset of severe right flank pain. Work up for his chronic shortness of breath revealed: Troponin negative. EKG showed sinus tachycardia. Echocardiogram revealed enlarged left ventricle, severely decreased LV systolic function of 25-30%. Given the absence of angina symptoms, negative troponin, and EKG findings, his new-onset cardiomyopathy was presumed to be non-ischemic. CT chest, abdomen and pelvis was performed for the new onset right flank pain, which revealed a 4.1 cm x 4.0 cm centrally necrotic aortocaval soft tissue mass. This raise a concern about malignancy. A CT-guided Fine-Needle Aspiration of the retroperitoneal mass suggested paraganglioma. Further investigation showed plasma normetanephrine at 5.56 nmol/L (Reference range: 0-0.89 nmol/L), 24 hour urine normetanephrine at 2411 ug/d (Reference range: 114-865 ug/d), and 24 hour urine norepinephrine at 179 ug/d (Reference range: 14-20 ug/d). Plasma metanephrines and plasma dopamine were within the normal range. A gallium DOTATE PET/CT revealed a necrotic aortocaval mass with peripheral uptake, consistent with the known paraganglioma. He was diagnosed with sympathetic paraganglioma complicated with chronic catecholamine-induced cardiomyopathy and had exploratory laparotomy excision of his paraganglioma. Preoperatively, he was treated with phenoxybenzamine and carvedilol. However, his post-surgical course was complicated by acute on chronic heart failure and pneumonia, and he subsequently passed away from a pulseless electrical activity arrest. Conclusion: Although sympathetic paragangliomas rarely presents as catecholamine-induced cardiomyopathy, this case emphasizes the importance of considering hormonal abnormalities in patients who present with non-ischemic cardiomyopathy without high risk factors. Reference: 1. Alessandra Giavarini, Antoine Chedid et al. Acute catecholamine cardiomyopathy in patients with phaechromocytoma or functional paraganglioma. Heart 2013; 99: 1438-1444. Presentation: 6/2/2024

Presentation of metastatic carotid body paraganglioma on F-18 FDG PET/CT: a rare disease

Carotid body paraganglioma is a slow growing tumor of head and neck region. It can rarely be malignant in nature which is characterized by distant metastases on anatomical imaging. We share an interesting presentation of a malignant carotid body on F-18 FDG PET/CT in form of liver and skeletal metastases.

Unveiling the hoarseness of voice: a case report of laryngeal paraganglioma

Abstract Voice hoarseness is a common clinical symptom, often resulting from underlying laryngeal pathologies, which can be either non-neoplastic or neoplastic. Laryngeal paraganglioma, a neuroendocrine tumor with a rare occurrence, originating from the parasympathetic paraganglia of the larynx, typically presents with nonspecific symptoms such as hoarseness, making it difficult to diagnose. The authors present a case of a 19-year-old male with a 5-month history of hoarseness who visited the outpatient department. Laryngoscopy revealed a supraglottic submucosal lesion involving the right aryepiglottic fold. Histopathology suggested potential diagnoses such as a neuroendocrine tumor, carcinoid, paraganglioma, or medullary thyroid carcinoma. Immunohistochemistry ultimately confirmed the diagnosis of paraganglioma. This case report highlights the importance of considering paraganglioma as the differential diagnosis of laryngeal lesions despite its rare occurrence in the larynx. Early identification is crucial for developing an effective treatment strategy and achieving optimal patient outcomes. Our case report adds to the growing literature on the clinical presentation and diagnostic evaluation of laryngeal paragangliomas.

Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma.

Sexual and ancestral differences in driver gene prevalence have been described in many cancers but have not yet been investigated in pheochromocytoma and paraganglioma (PPGL). This study aims to assess whether sex and ancestry influence prevalence of PPGL driver genes and clinical presentation. We conducted a retrospective analysis of patients with PPGL considering studies from 2010 onwards that included minimal data of type of disease, sex, mutated gene, and country of origin. Additional features were recorded when available (age, tumor location, bilateral or multifocal, somatic or germline, and metastatic disease). We included 2162 patients: 877 in Europe and 757 in Asia. Males presented more often with germline pathogenic variants (PVs) in genes activating hypoxia pathways (P = .0006) and had more often sympathetic paragangliomas (P = .0005) and metastasis (P = .0039). On the other hand, females with PPGLs due to MAX PVs were diagnosed later than males (P = .0378) and more often developed metastasis (P = .0497). European but not Asian females presented more often with PPGLs due to PVs in genes related to kinase signaling (P = .0052), particularly RET and TMEM127. Contrary to experiences from Europe, Asian patients with PPGL due to PVs in kinase signaling genes NF1, HRAS, and FGFR1 showed a high proportion of sympathetic tumors, while European patients almost exclusively had adrenal tumors (P < .005). Personalized management of patients with PPGL might benefit from considering sexual and ancestral differences. Further studies with better clinically aligned cohorts from various origins are required to better dissect ancestral influences on PPGL development.

Paraneoplastic Limbic Encephalitis From a Carotid Body Paraganglioma Presenting as Persistent and Worsening Confusion

Background: Paraneoplastic Syndromes (PNS) are rare conditions in which patients experience a variety of symptoms from altered immune systems due to underlying malignancy. Paraneoplastic Limbic Encephalitis (PLE) is a subtype of PNS in which autoantibodies to cancer cells cross-react with cells in the central nervous system, particularly in the medial temporal lobe. Here we present a 38-year-old, previously normal male who presented with persistent and worsening confusion and was diagnosed with a very rare PLE secondary to a carotid body paraganglioma. Case: A 38-year-old male with medical history of hypertension and polysubstance abuse was admitted initially for confusion, arm weakness, and memory loss. He denied having headache, fever, chills, or neck stiffness. Further history obtained from family revealed he was previously cognitively intact. Imaging was consistent with carotid body paraganglioma and limbic encephalitis. A 5-day course of high dose steroids and plasmapheresis was initiated. Plasmapheresis was performed every other day for 5 treatments with marked improvement in mental and renal function at the time of the third treatment. Biopsies obtained were consistent with carotid body paraganglioma and surrounding lymphadenopathy was negative for disease. Embolization was performed with subsequent excision of the tumor and eventual resolution of symptoms. Conclusion: This is to our knowledge the first documented case of paraneoplastic limbic encephalitis associated with a carotid body paraganglioma. Our patient had improved following resection of the underlying paraganglioma and experienced short-term improvement with high-dose steroids and plasmapheresi

Abstract 15836: Paraganglioma Presenting as Myocardial Infarction With Decompensated Heart Failure

Description of Case: Paragangliomas are extra-adrenal catecholamine secreting tumors, classically presenting with paroxysmal hypertension, headache, and diaphoresis. However, presentations vary significantly, and can mimic cardiac pathologies including myocardial infarction and aortic dissection. A 52-year-old male with history of hypertension and 1 year of palpitations presented for substernal chest pressure with associated dyspnea, nausea and diaphoresis. He reported two days of cough and nasal congestion, and recent addition of metoprolol for palpitations. His family history was notable for early ACS. On examination, he was tachycardic (140 bpm), hypertensive (220/140 mmHg), and hypoxic requiring non-rebreather mask. EKG revealed sinus tachycardia with 1mm J point elevations in V2 and V3. Chest X-Ray and bedside ultrasound indicated pulmonary edema and reduced systolic function. Nitroglycerin infusion was initiated and he was admitted to the Cardiac ICU. Laboratory testing showed a Troponin-T of 0.15 ng/L (normal &lt;0.01 ng/L), ntPro-BNP 2764 pg/mL, lactic acid 3.2 mmol/L, and respiratory swab positive for Influenza A. A CT Aorta ruled out acute dissection but identified several large retroperitoneal masses. Urgent cardiac catheterization demonstrated non-obstructive CAD. Echocardiography noted severely reduced ejection fraction of 30-35%. With diuresis and alpha blockade, he clinically improved and was discharged. Plasma and urine studies revealed elevated metanephrines. He underwent open paraaortic mass resection and pathology later confirmed paraganglioma. Discussion: With angina, elevated troponins, and acute decompensated heart failure, this presentation was initially concerning for ACS. However, the absence of obstructive CAD warranted further investigation. While concomitant Influenza A infection raised concern for viral myocarditis, abdominal imaging proved crucial in diagnosing paraganglioma.

SAT529 An Uncommon Case Report Of A Paraaortic Paraganglioma

Abstract Disclosure: E. Askar: None. J.R. Fredrick: None. S. Anantha: None. K.G. Reddy: None. Background: Extraadrenal pheochromocytomas, also known as paragangliomas are uncommon neuroendocrine tumors that develop from sympathetic ganglia chromaffin cells. These tumors rarely cause hypertension, in less than 0.2% of patients. Although pheochromocytomas are known to be secreting catecholamines, paragangliomas are less likely to be functional. Here we report a rare case of Catecholamine secreting Paraganglioma presenting with hypertension. Clinical Case: A 28 -year-old female with past medical history of Goldenhar syndrome presented to our outpatient institution complaining of headache, palpitations and high blood pressure measurements at home with systolic blood pressure ranging between 160-200 mm Hg for a few months prior to presentation. Her only medication was propranolol for hypertension. At presentation, blood pressure was 126/72 mm Hg, heart rate was 76 beats per minute. Physical examination revealed no significant findings. Abdominal exam did not reveal any palpable masses. The patient denied any history of substance, tobacco, or alcohol abuse. No family history was found for any similar masses or hypertension. Laboratory findings were significant for elevated normetanephrines at 785 pg/mL (18 to 111) with normal metanephrines level. CT abdomen was significant for 2.5 cm enhancing left paraaortic mass separate from kidneys and adrenal glands. The patient was started on doxazosin and propranolol was switched to atenolol. After her blood pressure was adequately controlled with the alpha and beta blockade, she was referred to a tertiary facility for excision of the mass. Robotic excision of the mass was performed successfully without any significant blood pressure variations noted intraoperatively. The diagnosis of a well differentiated extraadrenal pheochromocytoma was confirmed by pathology, and the patient was referred for outpatient genetic testing and endocrinology follow up. Conclusion: This is an extremely rare case of paraganglioma given its presentation and location of the mass. The previously reported paragangliomas usually present as ER visits with severe sympathetic symptoms but it is uncommon to present as an outpatient for secondary hypertension workup. In the literature, we have found case reports of catecholamine secreting paragangliomas which guided the management of this uncommon case as mentioned above. Clinicians must be aware of this rare presentation of paraganglioma in order to properly diagnose and manage the condition.

Pediatric Malignant Pelvic Paraganglioma-A Diagnostic and Surgical Challenge.

Pheochromocytoma are chromaffin cell-derived tumors that have an exceptionally high genetic predisposition. The presentation of extra-adrenal and pelvic paraganglioma (PGL) in children is uncommon. Due to the relative rarity, PGL tumors' presentation and disease behavior may vary. Genetic testing, imaging, and biochemical investigation are employed to diagnose PGL. Surgical resection with preoperative angioembolization has been practiced in alleviating the burden of torrential intraoperative bleeding.

Rare incidental presentation of urinary bladder paraganglioma and the anaesthetic challenges faced: A case report

Urinary bladder paraganglioma is an extra-adrenal pheochromocytoma. As it lacks specific symptoms and because of its rare occurrence, it presents incidentally while tumour handling. A forty-eight-year-old female who presented with nausea, vomiting, weight loss, pain abdomen and hematuria was diagnosed with a bladder mass. She was scheduled for transurethral resection of the bladder tumour. On tumour manipulation, it showed numerous fluctuations in heart rate and blood pressure, from where a differential diagnosis of urinary bladder paraganglioma was made. Histopathology revealed a zellbellan pattern of paraganglioma. This case was discharged successfully postoperatively. But if undiagnosed preoperatively, it can be a real challenge because of the fatal hypertensive crisis and life-threatening cardiopulmonary complications.

Paraganglioma in pregnancy, a mimic of preeclampsia: a case report

BackgroundThe new presentation of pheochromocytoma or paraganglioma in pregnancy is very rare and can be life-threatening for mother and child.Case presentationWe present the case of a 26-year-old gravida 3 para 2 otherwise healthy Caucasian woman at 34 weeks gestation who presented with new onset hypertension associated with headaches, dry heaves, diaphoresis, and palpitations. She was initially diagnosed with preeclampsia and treated with labetalol and an urgent cesarean section, delivering a healthy baby girl. The diagnosis of preeclampsia came into question when, 6 weeks postpartum, she continued to have hypertension with atypical features. Testing revealed metastatic paraganglioma associated with a succinate dehydrogenase B gene mutation. The patient was then started on alpha-adrenergic blockade and has had close blood pressure monitoring while discussion of advances therapies is ongoing.ConclusionThis case demonstrates how paraganglioma/pheochromocytoma can be misdiagnosed as preeclampsia due to the overlapping features of new-onset hypertension late in pregnancy accompanied by headache and proteinuria. It is impractical to routinely screen for paraganglioma/pheochromocytoma in all pregnant patients diagnosed with preeclampsia due to the rarity of these tumors and the harm from high false-positive rates. Therefore, it is incumbent on the provider to have a high degree of suspicion for paraganglioma/pheochromocytoma when clinical features are unusual for preeclampsia, such as intermittent palpitations, diaphoresis, orthostatic hypotension, or hyperglycemia. Early detection of paraganglioma/pheochromocytoma with interventions to mitigate the risk of hypertensive crisis greatly reduce maternal and fetal mortality. Fortunately, our patient delivered a healthy baby and did not have any additional pregnancy complications despite the delay in her diagnosis.

Gross hematuria as the presentation of ureteral paraganglioma: a case report and literature review

BackgroundParaganglioma of genitourinary tract is uncommon, and origin from ureter is even rarer. We aim to present a case of paraganglioma from ureter in a 48-year-old female patient, who presented with gross hematuria.Case presentationWe present a 48-year-old female who complained of gross hematuria for one week. A left ureteral tumor was found by image study. However, hypertension was unexpectedly recorded during diagnostic ureteroscopy survey. Due to persisted gross hematuria and bladder tamponade, she underwent left nephroureterectomy with bladder cuff resection. Blood pressure surged again when the tumor was surgically approached. Ureteral paraganglioma was confirmed according to pathological report. After the surgery, the patient recovered well, and no more gross hematuria was noted. She is now under regular follow-up at our outpatient clinic.ConclusionUreteral paraganglioma should be kept in mind not only when blood pressure fluctuates during operation, but also before we manipulate the ureteral tumor when gross hematuria is the only sign. Whenever the presumption of paraganglioma is raised, laboratory evaluation and anatomical or even functional imaging should be considered. The concomitant anesthesia consultation before the surgery should not be deferred, either.

Coexistence of Primary External Auditory Canal Cholesteatoma and Tympanomastoid Paraganglioma: A Diagnostic Dilemma.

Synchronous presentation of cholesteatoma and tympanomastoid paraganglioma is extremely rare. Due to the overlapping clinical features, the clinical diagnosis of coexistence is difficult. Only two cases of tympanomastoid paraganglioma coexisting with middle ear cholesteatoma have been reported in the literature, but simultaneous presentation of primary external auditory canal cholesteatoma and tympanomastoid paraganglioma has not been reported till date. Coexistence of external auditory canal cholesteatoma and paraganglioma is an incidental diagnosis in this current case. The advancement of imaging techniques could help the diagnosis of this very rare clinical coexistence in preoperative assessment.

Left adrenal aldosteronism coexisting with left paraaortic paraganglioma presenting as bilateral adrenal and left paraaortic tumors– comprehensive adrenal evaluation aiding perfect management: a case report

BackgroundCoexistence of a catecholamine-secreting tumor and an adrenal cortical tumor is quite rare which makes both diagnosis and management challenging. The purpose of this article is to describe the presence of this condition, share a stepwise approach for preoperative evaluation, and review the related literature.Case presentationA 44-year-old male patient had a history of hypertension and aggravating hypokalemia for years. Abdominal computed tomography incidentally found concomitant bilateral adrenal and left para-aortic tumors. Comprehensive adrenal hormone tests revealed a high aldosterone renin ratio and mildly elevated 24-h urine vanillylmandelic acid and norepinephrine levels. Subsequently, a metaiodobenzylguanidine scan showed uptake over the left para-aortic tumor, and NP-59 adrenal scintigraphy showed uptake over the left adrenal tumor. Further confirmatory tests, including captopril suppression, irbesartan suppression, and saline infusion, all confirmed the diagnosis of hyperaldosteronism. Adrenal venous sampling following 2 months of preparation with an alpha blocker demonstrated a left aldosterone-producing adrenal adenoma. Combining hormonal analysis, imaging studies, and adrenal venous sampling, the patient was diagnosed with left adrenal aldosteronoma, right adrenal nonfunctional tumor, and left para-aortic paraganglioma (PGL). Accordingly, laparoscopic left adrenalectomy and left PGL excision were performed smoothly under alpha blocker maintenance. The pathology report confirmed left adrenal cortical adenoma and left para-aortic PGL. Postoperatively, the blood pressure, biochemical tests, and adrenal hormone assays returned to normal, and related symptoms disappeared and were relatively stable during the follow-up period of two years.ConclusionsThis is the first case of left para-aortic PGL coexisting with an ipsilateral aldosterone-producing adenoma presenting as a left para-aortic tumor associated with bilateral adrenal tumors. Awareness of the rarity of this coexistence can avoid unexpected disasters during the process of evaluation and management.

PSAT027 An Incidentally-Discovered Retro-Cardiac Paraganglioma Presenting as NSTEMI

Abstract Introduction/Background Paragangliomas are rare tumors arising from extra-adrenal chromaffin tissue (1,2). The majority of paragangliomas occur in the head and neck, with the heart representing an uncommon site (3). We present a rare case of a patient who was incidentally found to have a hypersecretory retro-cardiac paraganglioma. Clinical Case A 72-year-old woman with a history of hypertension, hyperlipidemia, migraines, and prior cerebrovascular accident presented to the Emergency Department with sudden, substernal, pleuritic chest pain. She described weeks of a "fluttering sensation" in the chest with one episode of syncope. She denied shortness of breath or diaphoresis. Vitals were normal and EKG did not demonstrate ischemia. Troponin uptrended and the patient was admitted due to concern for non-ST-elevation myocardial infarction (NSTEMI). She promptly underwent cardiac catheterization which revealed non-obstructive coronaries and a left atrial mass with blood supply from the right coronary artery and the left circumflex artery. Cardiac MRI demonstrated an extracardiac, interpericardial 42×24×37 mm mass below the left atrium without aggressive features, and delayed homogenous enhancement with dynamic perfusion, suggestive of a paraganglioma. Biochemical evaluation demonstrated elevated free plasma normetanephrines of 5.5 nmol/L (normal: &amp;lt; 0.90 nmol/L) and normal free plasma metanephrines. Chromogranin-A was elevated at 454 ng/ml (normal: &amp;lt;93 ng/ml). 24-hour urine total urine metanephrines were markedly elevated at 1438 mcg/24h (normal: 180-646 mcg/24h) with mainly urine normetanephrines of 1390 mcg/24h (normal: 148-560 mcg/24h). The patient's TSH, free T4, and total T3 were normal. PET/CT scan was negative for metastatic disease. The patient denied a family history of paraganglioma or pheochromocytoma. She was seen in follow-up with Cardiac Surgery, who felt the resection would be technically difficult, but that there were no other alternatives. The patient's procedure was postponed due to a COVID-19 surge and patient was begun on alpha- and beta-blockade, instead of pure alpha-blockade with phenoxybenzamine, in view of her recent history of NSTEMI. Conclusion We present a rare case of an incidentally-found cardiac mass, discovered during cardiac catheterization, with biochemical and radiographic evaluations concerning for a retro-atrial paraganglioma. Cardiac paragangliomas can present with a range of symptoms, from hypertension to different obstructive symptoms, including ischemia, depending on the tumor's location. The secretory activity of cardiac paragangliomas can also vary; the literature reports that about 31% are biochemically active (2). Though rare, our case highlights the importance of understanding the atypical presentation and evaluation of cardiac paragangliomas.

RF33 | PSUN02 Presentation, Management, and Outcomes of Urinary Bladder Paraganglioma: Results from a Multi-center Study

Abstract Context and Objectives Urinary bladder paraganglioma (UBPGL) is rare. We aimed to characterize the presentation and outcomes of patients diagnosed with UBPGL. Methods We conducted a multi-center study of consecutive patients with pathologically-confirmed UBPGL evaluated between 1971 and 2021. Outcomes included repeat bladder surgery, metastases, and disease-specific mortality. Results 110 patients (56, 51% women) were diagnosed with UBPGL at a median age of 50 years (IQR, 36-61 years). Median tumor size was 2 cm (IQR, 1-4 cm). UBPGL was diagnosed prior to biopsy in only 37 (34%), and only 69 (63%) patients had evaluation for catecholamine excess. In addition to the initial bladder surgery, 26 (25%) required multiple therapies, including repeat surgery in 10 (9%). Synchronous metastases were present in 9 (8%) patients, and 24 (22%) other patients with UBPGL developed metachronous metastases at a median of 4 years (IQR, 2-10 years) after initial diagnosis. Development of metachronous metastases was associated with younger age (Hazard ratio, HR 0.97, 95%CI 0.94-0.99), UBPGL size (HR of 1.69, 95%CI of 1.31-2.17), and a higher degree of catecholamine excess (HR of 5.48, 95%CI of 1.40-21.39). Disease-specific mortality was higher in patients with synchronous metastases (HR of 20.80, 95%CI, 1.30-332.91). Choice of initial surgery, genetic association, sex, or presence of muscular involvement on pathology were not associated with development of metastases or mortality. Conclusions Only a minority of patients were diagnosed before biopsy/surgery, reflecting the need of better diagnostic strategies. All patients with UBPGL should be monitored life-long for development of recurrence and metastases. Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m., Monday, June 13, 2022 12:48 p.m. - 12:53 p.m.

ODP549 From Positive to Negative, a Histidine to Aspartic Acid Change in SDHB is Breaking Bad in Cardiac Paraganglioma

Abstract Introduction Cardiac paraganglioma (PGL) are extremely rare tumors. They are derived from chromaffin cells of the neural crest. Up to 40% of PGL foster germline mutations, while some bear somatic mutations. Here, we describe a sympathetic paraganglioma presenting as a cardiac mass, found to have a novel mutation of SDHB. Clinical Case A 64-year-old man with uncontrolled type 2 diabetes mellitus presented with chest pain, progressive fatigue and unintentional weight loss. An echocardiogram demonstrated a right atrial mass. Cardiac magnetic resonance imaging showed a 6.9×5.8×4.9 cm mass in the lateral right atrial wall and right atrioventricular groove, encasing the right coronary artery. Surgical removal was attempted and aborted due to involvement of the tricuspid valve. Incisional biopsy was consistent with paraganglioma. Plasma free normetanephrine was elevated at 1.87 nmol/L (ULN 0.89 nmol/L) and plasma free metanephrine was normal at 0.14 nmol/L (ULN 0.49 nmol/L). Chromogranin A was elevated at 1,038 ng/mL (normal &amp;lt;93 ng/mL). Iodine-123 meta-iodobenzylguanidine scan demonstrated increased and persistent MIBG activity of the cardiac mass. Ga-68 DOTATATE PET/CT scan revealed DOTATATE avidity of the mass without evidence of distant metastatic disease. Next-generation sequencing of the specimen revealed a variant of unknown significance of SDHB H244D at a variant allele frequency of 62.2%. This missense mutation replaces the histidine to aspartic acid, resulting in changes in charge of the side chain from positive to negative. Systemic treatment with tyrosine kinase inhibitor (TKI) cabozantinib was initiated due to unresectable tumor. Three month surveillance with Ga-68 PET/CT DOTATATE scan revealed partial response to treatment. Chromogranin A and normetanephrine are trending down, suggesting biochemical response. Conclusion Cardiac PGL are rare and SDHB mutations are associated with worse prognosis. This is the first case of a missense mutation of SDHB at H244D, which may be clinically relevant in characterizing cardiac paraganglioma and potential response to TKI therapy. Presentation: No date and time listed

Bladder Paraganglioma Presenting as Post-Micturition Syncope.

A 22-year-old woman presented with a 12-year history of intensifying paroxysms of anxiety, palpitations and recurrent syncope following micturition. The patient was referred to endocrinology upon discovery of hypertension. An extended family history revealed metastatic phaeochromocytoma and paraganglioma in two grand-uncles. Clinical examination revealed hypertension, with a mean 24-hour ambulatory blood pressure of 150/100 mmHg. Supine plasma normetanephrines were markedly elevated with a raised 3-methoxytyramine, while plasma metanephrines were normal. Computed tomography identified a 4.4 cm mass at the right inferolateral margin of the bladder wall. Scintigraphic imaging confirmed unifocal bladder lesion uptake with no additional metastatic lesions. Following pre-operative alpha blockade, the patient underwent a partial cystectomy. Histology confirmed a paraganglioma, and SDHB staining was lost in neoplastic cells consistent with an SDHB-related paraganglioma. Plasma normetanephrine, 3-methoxytyramine and blood pressure returned to normal postoperatively. Genetic screening identified a germline heterozygous SDHB gene variant c.723C>G. Bladder paragangliomas are a rare but important differential to consider when investigating post-micturition syncope. An extended family history should be sought and suspicion for a genetic cause should be raised, especially when the condition presents at a young age. This is the first reported case describing phaeochromocytoma or paraganglioma with the SDHB gene variant c.723C>G.LEARNING POINTSBladder paragangliomas are a rare neuroendocrine tumour which should be considered when assessing patients with haematuria and hypertension, headache, palpitations, sweating and facial pallor with micturition.This case highlights the importance of a thorough clinical history with an extended family history and examination in the setting of micturition syncope, which can rarely occur with bladder paraganglioma.Young age at presentation, a family history of phaeochromocytoma and paraganglioma (PPGL), unusual paraganglioma location, mutifocality and aggressive disease should raise the suspicion for a genetic predisposition to PPGL.

Presentation, Management, and Outcomes of Urinary Bladder Paraganglioma: Results From a Multicenter Study.

Urinary bladder paraganglioma (UBPGL) is rare. We aimed to characterize the presentation and outcomes of patients diagnosed with UBPGL. We conducted a multicenter study of consecutive patients with pathologically confirmed UBPGL evaluated between 1971 and 2021. Outcomes included repeat bladder surgery, metastases, and disease-specific mortality. Patients (n=110 total; n=56 [51%] women) were diagnosed with UBPGL at a median age of 50 years (interquartile range [IQR], 36-61 years). Median tumor size was 2 cm (IQR, 1-4 cm). UBPGL was diagnosed prior to biopsy in only 37 (34%), and only 69 (63%) patients had evaluation for catecholamine excess. In addition to the initial bladder surgery, 26 (25%) required multiple therapies, including repeat surgery in 10 (9%). Synchronous metastases were present in 9 (8%) patients, and 24 (22%) other patients with UBPGL developed metachronous metastases at a median of 4 years (IQR, 2-10 years) after the initial diagnosis. Development of metachronous metastases was associated with younger age (hazard ratio [HR] 0.97; 95% CI, 0.94-0.99), UBPGL size (HR 1.69; 95% CI, 1.31-2.17), and a higher degree of catecholamine excess (HR 5.48; 95% CI, 1.40-21.39). Disease-specific mortality was higher in patients with synchronous metastases (HR 20.80; 95% CI, 1.30-332.91). Choice of initial surgery, genetic association, sex, or presence of muscular involvement on pathology were not associated with development of metastases or mortality. Only a minority of patients were diagnosed before biopsy/surgery, reflecting need for better diagnostic strategies. All patients with UBPGL should have lifelong monitoring for development of recurrence and metastases.

Abstract #1168036: Paraganglioma Presenting in Pregnancy: A Mimic of Pre-Eclampsia

Abstract #1168036: Paraganglioma Presenting in Pregnancy: A Mimic of Pre-Eclampsia