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Medicina (Kaunas, Lithuania) Jun 2020Pheochromocytomas are rare neuroendocrine tumors that can affect people of all ages and are commonly diagnosed in the 4th and 5th decades of life. Familial...
Pheochromocytomas are rare neuroendocrine tumors that can affect people of all ages and are commonly diagnosed in the 4th and 5th decades of life. Familial pheochromocytomas are diagnosed mostly between the 2nd and 3rd decades of life. They can be benign or metastatic and often present as isolated tumors or along with other neuroendocrine syndromes. We present a case of an elderly man who underwent laparoscopic adrenalectomy for pheochromocytoma at the age of 60 years but developed recurrence of metastatic pheochromocytoma after ten years. We also conducted a literature review to understand the epidemiology and presentation of the tumor and to emphasize that there should be a low threshold of suspicion for timely diagnosis and management of recurrent pheochromocytoma.
Topics: Aged; Humans; Intensive Care Units; Male; Pancreatic Neoplasms; Pheochromocytoma; Stroke
PubMed: 32604789
DOI: 10.3390/medicina56060316 -
Endokrynologia Polska 2022Pheochromocytoma is a hormonally active tumour originating from neuroendocrine cells of the adrenal medulla. Chromogranin A (CgA) and peptide proSAAS belong to the...
INTRODUCTION
Pheochromocytoma is a hormonally active tumour originating from neuroendocrine cells of the adrenal medulla. Chromogranin A (CgA) and peptide proSAAS belong to the family of granins and are present in neuroendocrine cells of adrenal medulla, from where they are released to circulation, along with catecholamines. The aim of this study was to assess the usability of proSAAS peptide assay in patients with adrenal pheochromocytoma.
MATERIAL AND METHODS
23 patients (13 females and 10 males) with adrenal pheochromocytoma (benign in 18 patients and malignant in 5) confirmed by histopathology examination, and 35 blood donors as a control group. Plasma free metanephrines, CgA, and proSAAS peptide levels were measured in all participants.
RESULTS
CgA and proSAAS levels in the group of pheochromocytoma patients vs. the control were: 209 ng/mL and 0.8 ng/mL vs. 59 ng/mL and 0.3 ng/mL (p < 0.001), respectively. The following sensitivity and specificity indexes were obtained from ROC curves for CgA: 83% and 92%, respectively, and for the proSAAS peptide: 39% and 88%, respectively. The combination of 2 parameters: normetanephrine and proSAAS (96% and 100%) had a high diagnostic value, and the value of all determined parameters together (metanephrine, normetanephrine, CgA, and proSAAS) was 100%.
CONCLUSION
A single determination of the proSAAS peptide level is associated with a rather low diagnostic value. But collective determination of CgA and proSAAS may be an additional, valuable tool in biochemical diagnostics of pheochromocytoma.
Topics: Adrenal Gland Neoplasms; Chromogranin A; Chromogranins; Female; Humans; Male; Metanephrine; Normetanephrine; Peptides; Pheochromocytoma; Sensitivity and Specificity
PubMed: 35381093
DOI: 10.5603/EP.a2022.0017 -
Cureus Feb 2023Gallbladder paragangliomas are extremely rare with only a handful of cases reported so far. There are no definitive guidelines for the management of gallbladder...
Gallbladder paragangliomas are extremely rare with only a handful of cases reported so far. There are no definitive guidelines for the management of gallbladder paragangliomas due to their rarity. We present a case of a 53-year-old male who was found to have gallbladder paraganglioma post-laparoscopic cholecystectomy, performed for right upper abdominal pain. On review of the literature, all previously reported cases had been nonsecretory and benign. For patients who have no symptoms of secretory paragangliomas and no family history of endocrine syndromes, cholecystectomy and clinical follow-up may be a sufficient initial management following an incidental finding of gallbladder paraganglioma.
PubMed: 36994263
DOI: 10.7759/cureus.35327 -
World Journal of Clinical Cases Apr 2023Paragangliomas are rare neuroendocrine tumors. We hereby report a case of a localized paraganglioma found in the abdominal cavity, and review the relevant literature to...
BACKGROUND
Paragangliomas are rare neuroendocrine tumors. We hereby report a case of a localized paraganglioma found in the abdominal cavity, and review the relevant literature to improve the understanding of this disease.
CASE SUMMARY
A 29-year-old Chinese female patient was referred to our hospital due to an abdominal mass found on physical examination. Imaging revealed a mass in the left upper abdomen, suggestive of either a benign stromal tumor or an ectopic accessory spleen. Laparoscopic radical resection was subsequently performed, and histopathological analysis confirmed the diagnosis of a paraganglioma. The patient was followed up 3 months post-operation, and reported good recovery with no metastasis.
CONCLUSION
Radical resection can effectively treat intra-abdominal paragangliomas, with few side effects and low recurrence risk. In addition, early and accurate diagnosis and timely intervention are essential for the prognosis of this disease.
PubMed: 37122508
DOI: 10.12998/wjcc.v11.i10.2276 -
Interactive Cardiovascular and Thoracic... May 2021Mediastinal neurogenic tumours are uncommon and often benign neoplasms mostly located in the posterior mediastinum and usually diagnosed incidentally. We reviewed our...
OBJECTIVES
Mediastinal neurogenic tumours are uncommon and often benign neoplasms mostly located in the posterior mediastinum and usually diagnosed incidentally. We reviewed our results after surgical resection. We compared patient characteristics and tumour nature between children and adults. Differences between thoracoscopic and open approach were analysed.
METHODS
Departmental thoracic surgical database was queried for primary mediastinal neurogenic tumours resected between 1992 and 2017. Data included demographics, pathology, tumour nature, symptoms, surgical approach and postoperative morbidity/mortality.
RESULTS
Fifty-one patients (8 children and 43 adults) underwent tumour resection. Pathology revealed nerve sheath tumour in 1 child (12.5%) versus 36 adults (83.7%; P < 0.001) and ganglion cell tumour in 7 (87.5%) versus 5 (11.6%; P < 0.001). Two adults had a paraganglioma. Malignancy was present in 2 children (25%) versus 2 adults (4.6%; P = 0.049). All malignant tumours caused symptoms while most patients with benign tumours (38/47) were asymptomatic (P < 0.001). Surgical approach included thoracotomy, thoracoscopy and cervicotomy (n = 19/31/1) of which 2 were combined neurosurgical approach. All malignant tumours were approached via thoracotomy while the majority of patients with benign tumours (31/47) underwent thoracoscopy (P = 0.007). No significant difference was noted in overall morbidity between thoracoscopic versus open approach (45.2% vs 42.1%; P = 0.83). Hospital stay was significantly shorter following thoracoscopy (7.4 ± 3.3 vs 13.1 ± 9.8 days; P = 0.001).
CONCLUSIONS
Children carry a higher incidence to present with a malignant tumour originating from ganglion cells while most tumours in adults are benign, originating from the nerve sheath. The majority of patients with mediastinal neurogenic tumours are asymptomatic. Most tumours are amenable for thoracoscopic resection.
Topics: Humans; Length of Stay; Mediastinal Neoplasms; Retrospective Studies; Thoracoscopy; Thoracotomy
PubMed: 33517410
DOI: 10.1093/icvts/ivab002 -
Journal of Cerebrovascular and... Dec 2020Jugular foramen paragangliomas (JFP) are benign tumors of neural crest origin that are located along the temporal bone in the region of the jugular bulb and middle ear....
Jugular foramen paragangliomas (JFP) are benign tumors of neural crest origin that are located along the temporal bone in the region of the jugular bulb and middle ear. The optimal management of these lesions includes surgical excision with or without preoperative embolization as well as stereotactic radiotherapy. The use of preoperative embolization in the treatment of JFP has shown great promise to bridge patients to surgery by diminishing complication rates and decreasing intraoperative bleeding. We present three successful polyvinyl alcohol (PVA) particle embolizations of patients presenting with symptomatic JFPs. All patients recovered completely in the short term with no bleeding during or after resection of paragangliomas and they were discharged free of their presenting symptoms. Early clinical and imaging diagnosis followed by adequate treatment including preoperative transcatheter particle embolization and surgical or radiosurgical interventions can lead to excellent outcomes.
PubMed: 33334087
DOI: 10.7461/jcen.2020.E2019.09.033 -
Journal of Otology Mar 2020Tympanomastoid paragangliomas are usually benign, slowly growing, painless tumors. The common presenting symptoms of this tumor are pulsatile tinnitus and conductive...
BACKGROUND
Tympanomastoid paragangliomas are usually benign, slowly growing, painless tumors. The common presenting symptoms of this tumor are pulsatile tinnitus and conductive hearing loss. Vertigo as the cardinal or initial symptom is extremely are, especially in the early stages of the disease.
CASE PRESENTATION
A 53-year-old female patient presented only with intermittent recurrent vertigo and was later found to have a tympanomastoid paraganglioma. Her symptoms disappeared completely after resection of the tumor. This is the first report in literature of a case of tympanomastoid paraganglioma with vertigo as the single symptom.
CONCLUSION
The tympanomastoid paraganglioma is rare and its clinical symptoms are nonspecific, so it is easy to be misdiagnosed or missed. It is worth noting that although clinically uncommon, vertigo can also be the first or sole symptom of tympanomastoid paraganglioma. Detailed physical examination and imaging examination of the ear are necessary and should be carried out meticulously.
PubMed: 32110238
DOI: 10.1016/j.joto.2019.09.002 -
Annals of Medicine and Surgery (2012) May 2023Carotid body tumors (CBT) are neoplasms that originate from chemoreceptors of the carotid body. They are neuroendocrine tumors that are usually benign but may have...
UNLABELLED
Carotid body tumors (CBT) are neoplasms that originate from chemoreceptors of the carotid body. They are neuroendocrine tumors that are usually benign but may have malignant potential. Malignancy is diagnosed with evidence of lymph node metastasis, distant metastasis, or disease recurrence. Multiple imaging modalities are used to diagnose CBTs and the treatment of choice is surgical excision. Radiotherapy is used for unresectable tumors. In this case, series we describe two cases of malignant paragangliomas that were diagnosed and operated on at a tertiary hospital in Kuwait, by the vascular team. Malignant CBTs are rare, documentation of the cases encountered and the subsequent management and outcome is important to give us a better understanding of the disease.
CASE PRESENTATION
- A 23-year-old woman presented with a right-sided neck mass. History, physical examination, and appropriate imaging suggested malignant paraganglioma with evidence of lymph node, vertebral, and lung metastases. Surgical excision of the tumor and regional lymph nodes was done. Histopathological assessment of the retrieved specimens confirmed the diagnosis. A 29-year-old woman presented with a left submandibular swelling. She was appropriately investigated, and the diagnosis of a malignant carotid body tumor was made with evidence of lymph node metastasis. Surgical resection of the tumor with clear margins was done and histopathological analysis of the resected specimen confirmed the diagnosis.
CLINICAL DISCUSSION
CBT's are the most common tumors of the head and neck. Most are nonfunctioning, slow growing, and benign. They typically present in the fifth decade of life but can occur at a younger age in individuals who carry certain genetic mutations. Both cases of malignant CBT's that we encountered occurred in young women. Furthermore, the 4-year and 7-year history in case number one and two, respectively, supports the fact that CBTs are slow growing tumors. In our case series, the tumors were surgically resected. Both cases were discussed in multidisciplinary meetings and were referred for hereditary testing and radiation oncology for further management.
CONCLUSION
Malignant carotid body tumors are rare. Prompt diagnosis and treatment is important to improve patient outcomes.
PubMed: 37229046
DOI: 10.1097/MS9.0000000000000402 -
International Journal of Molecular... May 2023Malignant middle ear paraganglioma (MEPGL) is an exceedingly rare tumor of the neuroendocrine system. In general, MEPGLs represent as slow growing and hypervascularized...
Malignant middle ear paraganglioma (MEPGL) is an exceedingly rare tumor of the neuroendocrine system. In general, MEPGLs represent as slow growing and hypervascularized benign neoplasms. The genetic basis of MEPGL tumorigenesis has been poorly investigated. We report a case of malignant MEPGL accompanied by the comprehensive genetic analysis of the primary tumor and metastasis. Based on whole-exome sequencing data, the germline pathogenic mutation p.R230H in the gene, encoding for subunit B of mitochondrial complex II, was found in a patient. Analysis of somatic mutation spectra revealed five novel variants in different genes, including a potentially deleterious variant in that was common for the tumor and metastasis. Identified somatic variants clustered into SBS1 and SBS5 mutational signatures. Of note, the primary tumor was characterized by Ki-67 4% and had an elevated mutational load (1.4/Mb); the metastasis' mutational load was about 4.5 times higher (6.4/Mb). In addition, we revealed somatic loss of the wild-type allele, as well as loss of heterozygosity (LOH) at the 11p locus. Thus, germline mutation in combined with somatic LOH seem to be drivers that lead to the tumor's initiation and progression. Other somatic changes identified can be additional disease-causing factors. Obtained results expand our understanding of molecular genetic mechanisms associated with the development of this rare tumor.
Topics: Humans; Paraganglioma; Mutation; Germ-Line Mutation; Loss of Heterozygosity
PubMed: 37175927
DOI: 10.3390/ijms24098220 -
Neurosurgical Review Feb 2022Cauda equina paragangliomas are rare benign extra-adrenal neuroendocrine tumours arising from the neural crest cells associated with autonomic ganglia. These tumours are... (Review)
Review
Cauda equina paragangliomas are rare benign extra-adrenal neuroendocrine tumours arising from the neural crest cells associated with autonomic ganglia. These tumours are often mistaken preoperatively for ependymomas or schwannomas. Patients present with axial or radicular pain with or without neurological deficits. Recurrence, secretory features and length of follow-up are controversial. We conducted a retrospective cohort study of paraganglioma through searching a prospectively maintained histopathology database. Patient demographics, presentation, surgery, complications, recurrence, follow-up and outcome between 2004 and 2016 were studied. The primary aim was to collate and describe the current evidence base for recurrence and secretory features of the tumour. The secondary objective was to report outcome and follow-up strategy. A scoping review was performed in accordance with the PRISMA-ScR Checklist. Ten patients were diagnosed (M:F 7:3) with a mean age of 53.6 ± 5.1 (range 34-71 years). MRI scans revealed intradural lumbar enhancing lesions. All patients had complete microsurgical excisions without adjuvant therapy with no recurrence with a mean follow-up of 5.1 ± 1.4 years. Tumours were attached to the filum terminale. Electron microscopic images demonstrated abundant neurosecretory granules with no evidence of catecholamine production. A total of 620 articles were screened and 65 papers (including ours) combining 121 patients (mean age 48.8 and M:F 71:50) were included. The mean follow-up was 3.48 ± 0.46 (range 0.15-23 years). Back pain was the most common symptom (94%). Cure following surgery was achieved in 93% of the patients whilst 7% had recurrence. Total resection likely results in cure without the need for adjuvant therapy or prolonged follow-up. However, in certain situations, the length of follow-up should be determined by the treating surgeon.
Topics: Adult; Aged; Cauda Equina; Ependymoma; Humans; Magnetic Resonance Imaging; Middle Aged; Paraganglioma; Peripheral Nervous System Neoplasms; Retrospective Studies
PubMed: 34021421
DOI: 10.1007/s10143-021-01565-7