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Head & Neck Sep 2020We aimed to review our experience and the changing trends in the management of head and neck paragangliomas (HNPG) over the last three decades.
BACKGROUND
We aimed to review our experience and the changing trends in the management of head and neck paragangliomas (HNPG) over the last three decades.
METHODS
We retrospectively reviewed 103 patients with HNPG treated at our center (1986-2017). We included patients treated with surgery, radiotherapy, and patients maintained under active surveillance.
RESULTS
Of the surgically treated patients (n = 79), 20% (12/59) of the carotid body tumors (CBT) had a cranial nerve deficit as sequela compared to 95% (19/20) of the non-CBT. Radiotherapy controlled growth in all tumors treated with this modality (n = 10). Of the initially observed patients, 70% (14/20) remained stable and did not require additional treatment. Stratifying by decades, there was a progressive increase in patients initially attempted to be observed and a decrease in upfront surgery. No deaths attributable to the HNPG were encountered.
CONCLUSIONS
Surgery is an effective treatment for CBT. Nonsurgical treatment should be considered for non-CBT.
Topics: Carotid Body Tumor; Head and Neck Neoplasms; Humans; Paraganglioma; Paraganglioma, Extra-Adrenal; Retrospective Studies; Treatment Outcome
PubMed: 32427418
DOI: 10.1002/hed.26277 -
Journal of Human Hypertension Mar 2013Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30% or more of them are thought to be of inherited origin due to germ-line... (Review)
Review
Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30% or more of them are thought to be of inherited origin due to germ-line mutations in at least 10 well-characterized genes. There are data linking specific genotypes of these tumors to specific locations, typical biochemical phenotypes or future clinical behaviors. Conversely, clinical features, catecholamine production and immunohistochemistry evaluation can help with the proper order of genetic testing for PHEO and PGL. The identification of a germ-line mutation can lead to an early diagnosis, appropriate treatment, regular surveillance and better prognosis not only for the patient but also for their family members. Moreover, the latest discoveries in molecular pathogenesis of these tumors will provide an important basis for future personalized therapy.
Topics: Adrenal Gland Neoplasms; Catecholamines; Genetic Predisposition to Disease; Genetic Testing; Heredity; Humans; Paraganglioma, Extra-Adrenal; Patient Selection; Phenotype; Pheochromocytoma; Precision Medicine; Predictive Value of Tests; Prognosis
PubMed: 22648268
DOI: 10.1038/jhh.2012.20 -
The Journal of Clinical Endocrinology... May 2023Pheochromocytomas and paragangliomas (PPGL) are rare causes of secondary hypertension, but when unrecognized, they can lead to serious complications. Data regarding PPGL...
CONTEXT
Pheochromocytomas and paragangliomas (PPGL) are rare causes of secondary hypertension, but when unrecognized, they can lead to serious complications. Data regarding PPGL screening are lacking.
OBJECTIVE
This study aimed to assess the rates and patterns of PPGL screening among eligible patients.
METHODS
We conducted a retrospective review of adults with hypertension seen in outpatient clinics of a large academic center between January 1, 2017, and June 30, 2020. We included patients with treatment-resistant hypertension, hypertension at age < 35 years, and/or adrenal mass(es).
RESULTS
Of 203 535 patients with hypertension identified, 71 088 (35%) met ≥ 1 inclusion criteria, and 2013 (2.83%) were screened for PPGL. Patients screened were younger (56.2 ± 17.4 vs 64.0 ± 17.1 years), more often women (54.1% vs 44.2%), and never-smokers (54.6% vs 47.5%, P < 0.001 for all). The rate of screening was highest in patients with hypertension and adrenal mass(es) (51.7%, vs 3.9% in patients with early-onset hypertension, and 2.4% in those with treatment-resistant hypertension). Multivariable logistic regression showed higher odds ratio (OR) of PPGL screening in women (OR [95% CI]: 1.48 [1.34-1.63]); Black vs White patients (1.35 [1.19-1.53]); patients with adrenal mass(es) (55.1 [44.53-68.15]), stroke (1.34 [1.16-1.54]), dyslipidemia (1.41 [1.26-1.58]), chronic kidney disease (1.40 [1.26-1.56]), and obstructive sleep apnea (1.96 [1.76-2.19]).
CONCLUSION
PPGL screening is pursued in roughly half of patients with adrenal nodules and hypertension, but rarely in patients with treatment-resistant or early-onset hypertension. Similar to screening for other forms of secondary hypertension, PPGL screening occurs more often after serious complications develop.
Topics: Adult; Humans; Female; Pheochromocytoma; Paraganglioma; Risk Factors; Adrenal Gland Neoplasms; Hypertension
PubMed: 36469797
DOI: 10.1210/clinem/dgac701 -
Annals of Surgical Oncology May 2020This first part of a two-part review of pheochromocytoma and paragangliomas (PPGLs) addresses clinical presentation, diagnosis, management, treatment, and outcomes. In... (Review)
Review
Update on Pheochromocytoma and Paraganglioma from the SSO Endocrine/Head and Neck Disease-Site Work Group. Part 1 of 2: Advances in Pathogenesis and Diagnosis of Pheochromocytoma and Paraganglioma.
This first part of a two-part review of pheochromocytoma and paragangliomas (PPGLs) addresses clinical presentation, diagnosis, management, treatment, and outcomes. In this first part, the epidemiology, prevalence, genetic etiology, clinical presentation, and biochemical and radiologic workup are discussed. In particular, recent advances in the genetics underlying PPGLs and the recommendation for genetic testing of all patients with PPGL are emphasized. Finally, the newer imaging methods for evaluating of PPGLs are discussed and highlighted.
Topics: Abdomen; Adrenal Gland Neoplasms; Arrhythmias, Cardiac; Catecholamines; Chromaffin Cells; Ganglia, Parasympathetic; Ganglia, Sympathetic; Genetic Testing; Headache; Humans; Hypertension; Multiple Endocrine Neoplasia Type 2a; Multiple Endocrine Neoplasia Type 2b; Neoplastic Syndromes, Hereditary; Neurofibromatosis 1; Paraganglioma; Paraganglioma, Extra-Adrenal; Pelvis; Pheochromocytoma; Sweating; von Hippel-Lindau Disease
PubMed: 32112212
DOI: 10.1245/s10434-020-08220-3 -
Trends in Endocrinology and Metabolism:... Nov 2017Pheochromocytomas and paragangliomas (PPGLs) belong to the family of neural crest cell-derived neoplasms. In up to 70% of cases they are associated with germline and... (Review)
Review
Pheochromocytomas and paragangliomas (PPGLs) belong to the family of neural crest cell-derived neoplasms. In up to 70% of cases they are associated with germline and somatic mutations in 15 well-characterized PPGL driver or fusion genes. PPGLs can be grouped into three main clusters, where cluster 1 includes PPGLs characterized by a pseudohypoxic signature. Although cluster 1 tumors share several common features, they exhibit unique behaviors. We present here unique insights into the imaging phenotypes of cluster 1 PPGLs based on glucose uptake, catecholamine metabolism, and somatostatin receptor expression. Recent data suggest that succinate is a major player in the imaging phenotype of succinate dehydrogenase-deficient PPGLs. This review emphasizes the emerging stromal cell-succinate interaction and highlights new perspectives in PPGL theranostics.
Topics: Adrenal Gland Neoplasms; Catecholamines; Fluorodeoxyglucose F18; Humans; Paraganglioma; Phenotype; Pheochromocytoma; Radionuclide Imaging; Receptors, Somatostatin; Stromal Cells; Succinic Acid
PubMed: 28867159
DOI: 10.1016/j.tem.2017.08.001 -
Journal of Endocrinological... Jan 2022Pheochromocytoma (PHEO) and paraganglioma (PGL) are rare neuroendocrine tumors releasing catecholamines. Metastatic pheochromocytomas/paragangliomas (PPGLs) occur in...
BACKGROUND
Pheochromocytoma (PHEO) and paraganglioma (PGL) are rare neuroendocrine tumors releasing catecholamines. Metastatic pheochromocytomas/paragangliomas (PPGLs) occur in about 5-26% of cases. To date, the management of patients affected by metastatic disease is a challenge in the absence of guidelines.
AIM
The aim of this study was to evaluate the overall survival (OS) and the progression-free survival (PFS) in metastatic PPGLs.
METHODS
Clinical data of 20 patients referred to the Careggi University Hospital (Florence, Italy) were retrospectively collected. Follow-up ranged from 1989 to 2019. Site and size of primary tumor, biochemical activity, genetic analysis and employed therapies were considered. Data were analyzed with SPSS version 27.
RESULTS
Nine PHEOs (45%) and 11 PGLs (55%) were enrolled. Median age at diagnosis was 43.5 years [30-55]. Mean follow-up was 104.6 ± 89.3 months. Catecholamines were released in 70% of cases. An inherited disease was reported in 50% of patients. OS from the initial diagnosis (OSpt) and from the metastatic appearance (OSmtx) were lower in older patients (OSpt p = 0.028; OSmtx p < 0.001), abdominal PGLs (OSpt p = 0.007; OSmtx p = 0.041), larger tumors (OSpt p = 0.008; OSmtx p = 0.025) and sporadic disease (OSpt p = 0.013; OSmtx p = 0.008).
CONCLUSION
Our data showed that older age at the initial diagnosis, sympathetic extra-adrenal localization, larger tumors and wild-type neoplasms are related to worse prognosis. Notably, the employed therapies do not seem to influence the survival of our patients. At present, effective treatments for metastatic PPGLs are missing and a multidisciplinary approach is indispensably required.
Topics: Adrenal Gland Neoplasms; Adult; Female; Humans; Italy; Male; Middle Aged; Neoplasm Metastasis; Paraganglioma; Pheochromocytoma; Prognosis; Retrospective Studies; Survival Analysis; Treatment Outcome; Watchful Waiting
PubMed: 34227051
DOI: 10.1007/s40618-021-01629-x -
Journal of Cardiothoracic Surgery May 2020Paragangliomas are rare endocrine tumors that arise from the extra-adrenal autonomic paraganglia and sympathetic paragangliomas usually secret catecholamines and are...
INTRODUCTION
Paragangliomas are rare endocrine tumors that arise from the extra-adrenal autonomic paraganglia and sympathetic paragangliomas usually secret catecholamines and are located in the sympathetic paravertebral ganglia of thorax, abdomen, and pelvis. In contrast, most parasympathetic paragangliomas are nonfunctional and located along the glossopharyngeal and vagal nerves in the neck and at the base of the skull. Such neoplasms, although rare, are clinically important because they may recur after surgical resection and 10% of them give rise to metastases causing death with the lymphatic nodes, bones, liver, and lungs being the most common locations.
CASE PRESENTATION
We present a case of a 26-year-old male patient that was diagnosed with paraganglioma of the right-frontal lobe infiltrating the falx and frontal bone which was diagnosed after suffering from a headache and abnormal vision. On initial work-up he was found to have right pulmonary nodules that increased in size after follow up and other nodules appeared in the contralateral lung. He underwent subtotal resection of the brain tumor and complete resection of the bilateral pulmonary nodules.
CONCLUSION
To our knowledge, paraganglioma is considered to be a rare entity in the central nervous system with very few cases being reported in the supratentorial region and no cases were reported of metastatic such paraganglioma to the lung.
Topics: Adult; Brain; Humans; Lung Neoplasms; Magnetic Resonance Imaging; Male; Multiple Pulmonary Nodules; Neoplasm Metastasis; Neoplasm Recurrence, Local; Paraganglioma; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 32393294
DOI: 10.1186/s13019-020-01113-2 -
Il Giornale Di Chirurgia 2017Very few cases of gastric paragangliomas have been reported in the literature to date. We report a rare case of parietal gastric paraganglioma fortuitously detected... (Review)
Review
Very few cases of gastric paragangliomas have been reported in the literature to date. We report a rare case of parietal gastric paraganglioma fortuitously detected during intraoperative exploration. A 82-years-old woman presented to our emergency room for abdominal pain. On physical examination abdomen was painful on palpation and Blumberg's sign was present. The laboratory exams showed a neutrophilia in absence of leukocytosis. Acute appendicitis was suspected and a laparoscopy was performed. At exploration, the vermiform appendix was normal while a lumpy, hard-fibrous and white-pinkish extraluminal lesion of the anterior wall of the gastric body near the greater curvature of about 2 cm in diameter was present. Laparoscopic resection of the gastric lesion was performed. The patient was discharged in good condition in the fourth postoperative day. Pathologic examination revealed a gangliocitic paraganglioma. The patient is alive and well without evidence of relapse 6 months after surgery. Gastric paraganglioma is a very rare tumor and its diagnosis is very difficult. Surgical excision is the treatment of choice which can be performed successfully with laparoscopy.
Topics: Aged, 80 and over; Female; Humans; Incidental Findings; Intraoperative Period; Laparoscopy; Paraganglioma; Stomach Neoplasms
PubMed: 28691673
DOI: 10.11138/gchir/2017.38.2.084 -
A 15-year pheochromocytoma and paraganglioma experience in a single centre: a Singapore perspective.Singapore Medical Journal Nov 2022Pheochromocytomas (PCC) and paragangliomas (PGL) are rare endocrine tumours. The objective of this study was to describe our experience with these two entities in a...
INTRODUCTION
Pheochromocytomas (PCC) and paragangliomas (PGL) are rare endocrine tumours. The objective of this study was to describe our experience with these two entities in a Singapore population.
METHODS
We identified patients with positive histopathological confirmations of PCC and PGL who were treated at a tertiary Singapore hospital between January 2000 and December 2015. The results were analysed for clinical presentations, treatment and long-term outcomes.
RESULTS
A total of 27 cases (20 PCC, 7 PGL) were identified over a 15-year period. One case of PGL developed bilateral disease on follow-up. There were 17 male and 10 female patients with a median age of 57 (range 24-77) years. A positive family history was uncommon and present in only 3.7% of patients. Uniquely, the top three presenting symptoms were abdominal discomfort, palpitations and diaphoresis. Despite adequate preoperative preparation, intraoperative haemodynamic instability occurred in 70.4% and early postoperative hypotension occurred in 11.1% of patients. After surgery, hypertension was resolved in 41.2% (7/17) and diabetes mellitus in 60% (3/5). Disease recurrence was reported in 22.2% and distant metastases in 14.8%. At the end of the follow-up period (median 35 [range 3-148] months), 70.4% were still alive.
CONCLUSION
PCC and PGL can present with a wide range of symptoms. Intraoperative haemodynamic instability was frequent despite good preoperative preparation. Disease recurrences and metastasis occurred in up to one-fifth of the patients. Genetic screening should be offered to patients with PCC and PGL.
Topics: Humans; Male; Female; Young Adult; Adult; Middle Aged; Aged; Pheochromocytoma; Singapore; Neoplasm Recurrence, Local; Paraganglioma; Adrenal Gland Neoplasms
PubMed: 34602493
DOI: 10.11622/smedj.2021135 -
The Oncologist 2013Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare catecholamine-secreting tumors derived from chromaffin cells originating in the neural crest. These tumors... (Review)
Review
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare catecholamine-secreting tumors derived from chromaffin cells originating in the neural crest. These tumors represent a significant diagnostic and therapeutic challenge because the diagnosis of malignancy is frequently made in retrospect by the development of metastatic or recurrent disease. Complete surgical resection offers the only potential for cure; however, recurrence can occur even after apparently successful resection of the primary tumor. The prognosis for malignant disease is poor because traditional treatment modalities have been limited. The last decade has witnessed exciting discoveries in the study of PCCs and PGLs; advances in molecular genetics have uncovered hereditary and germline mutations of at least 10 genes that contribute to the development of these tumors, and increasing knowledge of genotype-phenotype interactions has facilitated more accurate determination of malignant potential. Elucidating the molecular mechanisms responsible for malignant transformation in these tumors has opened avenues of investigation into targeted therapeutics that show promising results. There have also been significant advances in functional and radiological imaging and in the surgical approach to adrenalectomy, which remains the mainstay of treatment for PCC. In this review, we discuss the currently available diagnostic and therapeutic options for patients with malignant PCCs and PGLs and detail the molecular rationale and clinical evidence for novel and emerging diagnostic and therapeutic strategies.
Topics: Adrenal Gland Neoplasms; Adrenalectomy; Diagnostic Imaging; Humans; MicroRNAs; Mutation; Neoplasm Recurrence, Local; Paraganglioma; Pheochromocytoma; Prognosis
PubMed: 23576482
DOI: 10.1634/theoncologist.2012-0410