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World Journal of Clinical Cases Sep 2022Kidney transplantation is associated with an increased risk of tumors in the urinary bladder. Among all the pathological types of tumors in the bladder, paraganglioma,...
BACKGROUND
Kidney transplantation is associated with an increased risk of tumors in the urinary bladder. Among all the pathological types of tumors in the bladder, paraganglioma, which arises from extra-adrenal paraganglia and consists of chromaffin cells, is rare. Paragangliomas might cause severe clinical symptoms due to catecholamine hypersecretion or mass compression. Bladder paragangliomas are rare, especially those appearing after kidney transplantation. Here, we report a case of bladder paraganglioma developing after kidney transplantation.
CASE SUMMARY
A 63-year-old woman received a kidney transplant 12 years ago and took oral immunosuppressants (cyclosporine, mizoribine, and methylprednisolone) for regular post-transplant treatment. The patient felt no discomfort and she came to the hospital for a routine checkup. A mass located in the bladder was incidentally discovered by computed tomography, and she underwent surgical treatment. A 2 cm × 2 cm invasive mass was found in the trigone of the bladder and the mass was removed. The diagnosis of paraganglioma was confirmed by morphology and immunophenotyping. The patient had a good prognosis and is still alive.
CONCLUSION
Paraganglioma can grow in the bladder, which might cause no clinical symptoms. The diagnosis mainly depends on morphology and immunophenotyping. Surgical resection is an important treatment option for such patients.
PubMed: 36157666
DOI: 10.12998/wjcc.v10.i25.9044 -
Cardiovascular Research Mar 2021The motivation for this review comes from the emerging complexity of the autonomic innervation of the carotid body (CB) and its putative role in regulating chemoreceptor... (Review)
Review
The motivation for this review comes from the emerging complexity of the autonomic innervation of the carotid body (CB) and its putative role in regulating chemoreceptor sensitivity. With the carotid bodies as a potential therapeutic target for numerous cardiorespiratory and metabolic diseases, an understanding of the neural control of its circulation is most relevant. Since nerve fibres track blood vessels and receive autonomic innervation, we initiate our review by describing the origins of arterial feed to the CB and its unique vascular architecture and blood flow. Arterial feed(s) vary amongst species and, unequivocally, the arterial blood supply is relatively high to this organ. The vasculature appears to form separate circuits inside the CB with one having arterial venous anastomoses. Both sympathetic and parasympathetic nerves are present with postganglionic neurons located within the CB or close to it in the form of paraganglia. Their role in arterial vascular resistance control is described as is how CB blood flow relates to carotid sinus afferent activity. We discuss non-vascular targets of autonomic nerves, their possible role in controlling glomus cell activity, and how certain transmitters may relate to function. We propose that the autonomic nerves sub-serving the CB provide a rapid mechanism to tune the gain of peripheral chemoreflex sensitivity based on alterations in blood flow and oxygen delivery, and might provide future therapeutic targets. However, there remain a number of unknowns regarding these mechanisms that require further research that is discussed.
Topics: Animals; Arteries; Autonomic Nervous System; Cardiovascular Diseases; Carotid Body; Hemodynamics; Humans; Oxygen; Reflex; Regional Blood Flow; Species Specificity
PubMed: 32832979
DOI: 10.1093/cvr/cvaa250 -
Ear, Nose, & Throat Journal Sep 2023Paragangliomas are rare, slow-growing, hypervascular, catecholamine-secreting neuroendocrine tumors arising from the paraganglia. Paragangliomas are rarely found in the...
Paragangliomas are rare, slow-growing, hypervascular, catecholamine-secreting neuroendocrine tumors arising from the paraganglia. Paragangliomas are rarely found in the head and neck and are typically benign, presenting as a painless, slow-growing mass. Surgical extirpation in combination with long-term surveillance has been long regarded as the standard of care; however, the advances in imaging, radiation therapy, and embolization techniques have improved diagnostic and therapeutic modalities. We present a case of an 87-year-old female who had previously undergone resection of a paraganglioma in 1998, with no evidence of disease in 2002. Eighteen years later, the patient presented to the clinic with otogenic complaints. Imaging showed an expansive mass from the jugular foramen with bone destruction and opacification within the ear canal. The patient opted for observation. The patient eventually presented to the emergency room with neurologic manifestations. Imaging showed a cerebellar abscess prompting emergency drainage. Intraoperative cultures grew and , and the patient was started on 6 weeks of IV antibiotic therapy. Debulking of the paraganglioma was performed followed several months by mastoid and ear canal obliteration; however, the patient experienced complications, including dehiscence of the external auditory canal and infection. The patient was eventually treated successfully, marked by a reduction in complaints, a return to baseline activities, and imaging showing no increase in tumor size.
Topics: Female; Humans; Aged, 80 and over; Paraganglioma; Diagnostic Imaging; Head and Neck Neoplasms; Neck; Mastoid
PubMed: 37551648
DOI: 10.1177/01455613231187762 -
Cureus Sep 2021Background Glomus jugulare tumors are rare slow-growing hypervascular tumors that arise from the paraganglia of the chemoreceptor system within the jugulare foramen of...
Background Glomus jugulare tumors are rare slow-growing hypervascular tumors that arise from the paraganglia of the chemoreceptor system within the jugulare foramen of the temporal lobe. The historical standard treatment has been surgical resection, but because of their high vascularity and involvement with cranial nerves (CNs), Gamma Knife radiosurgery (GKRS) has been advocated as an alternative. The goal of this study is to update and report long-term results of GKRS to achieve local control and symptomatic improvement and to reduce morbidity and mortality when treating glomus jugulare tumors. Materials and Methods This study retrospectively collected and reviewed clinical and radiographic data of 32 patients with glomus jugulare tumors treated with GKRS at the Miami Neuroscience Center, South Miami, FL, from 1995 to 2019. For the 32 patients, the mean volume treated was 13.9 cc (0.23 to 40.0 cc), with an average of 8.6 isocenters. The median prescription dose was 12.84 Gy ± 2.07 Gy (range: 10-20 Gy). Follow-up data were available for 29 out of 32 patients, with a median clinical follow-up time of 37.3 months (range: 4.3-169.1 months). At follow-up, patients were evaluated for neurological signs and symptoms and radiographic evidence of progression of disease. Results The median age of the cohort treated with GKRS was 60 years (range: 14-83 years). There were three males and 27 females. Presenting symptomatology was available for 30 out of 32 patients. The most common presenting symptom was hearing loss (21/30) and the most common CN deficit was in CN VIII (19/30). Out of 29 of the patients followed up, 28 patients had improvement (20/29) or resolution (8/29) of symptoms. At the most recent evaluation or contact, patients were without symptomatic progression of CN deficits. Radiographic tumor control was achieved in 28 out of 29 patients. One patient had a recurrence seven years after GKRS, which was treated with surgery. There were no complications, radionecrosis, or mortality reported from GKRS. Conclusion These data confirm that GKRS is a reasonable upfront treatment option for glomus jugulare tumors. GKRS should be considered more frequently given its excellent long-term local control with low morbidity and risk of complications.
PubMed: 34692309
DOI: 10.7759/cureus.18095 -
Cancers Jun 2022Hypoxia-inducible factors (HIF) 2α and 1α are the major oxygen-sensing molecules in eukaryotic cells. HIF2α has been pathogenically linked to paraganglioma and...
Hypoxia-inducible factors (HIF) 2α and 1α are the major oxygen-sensing molecules in eukaryotic cells. HIF2α has been pathogenically linked to paraganglioma and pheochromocytoma (PPGL) arising in sympathetic paraganglia or the adrenal medulla (AM), respectively. However, its involvement in the pathogenesis of paraganglioma arising in the carotid body (CB) or other parasympathetic ganglia in the head and neck (HNPGL) remains to be defined. Here, we retrospectively analyzed HIF2α by immunohistochemistry in 62 PPGL/HNPGL and human CB and AM, and comprehensively evaluated the HIF-related transcriptome of 202 published PPGL/HNPGL. We report that HIF2α is barely detected in the AM, but accumulates at high levels in PPGL, mostly (but not exclusively) in those with loss-of-function mutations in and genes encoding components of the succinate dehydrogenase (SDH) complex. This is associated with upregulation of and the HIF2α-regulated genes and . In contrast, HIF2α and HIF2α-regulated genes are highly expressed in CB and HNPGL, irrespective of VHL and SDH dysfunctions. We also found that HIF2α and HIF1α protein expressions are not correlated in PPGL nor HNPGL. In addition, HIF1α-target genes are almost exclusively overexpressed in -mutated HNPGL/PPGL. Collectively, the data suggest that involvement of HIF2α in the physiology and tumor pathology of human paraganglia is organ-of-origin-dependent and HIF1α-independent.
PubMed: 35740651
DOI: 10.3390/cancers14122986 -
International Journal of Surgery Case... Sep 2021Mediastinal paragangliomas are rare neuroendocrine tumors that originate from extra-adrenal paraganglia, occasionally secreting catecholamines. Nonfunctional mediastinal...
INTRODUCTION AND IMPORTANCE
Mediastinal paragangliomas are rare neuroendocrine tumors that originate from extra-adrenal paraganglia, occasionally secreting catecholamines. Nonfunctional mediastinal paragangliomas present nonspecific clinical and radiological features and represent a diagnostic challenge.
CASE PRESENTATION
A 53-year old woman presented with cough and dyspnea increasing over time. CT-scan and ultrasonography showed a large vascularized cervico-mediastinal mass, consistent with an intrathoracic ectopic goiter. Preoperative angiography showed a blood supply from neck vessels. The lesion was completely removed through a cervical approach. The diagnosis of paraganglioma was a histological surprise. The patient is alive without recurrence 30 months after surgery.
CLINICAL DISCUSSION
When preoperatively diagnosed, the treatment of choice of a mediastinal paraganglioma is surgical excision. However, a preoperative diagnosis of mediastinal paraganglioma is difficult to obtain, especially in cases of nonfunctional lesions. Distinction between an intrathoracic goiter and a nonfunctional paraganglioma can be extremely difficult and, given the rarity of the latter, an ectopic goiter is suspected in first instance. CT-scan and ultrasonography are of little use in the differential diagnosis. However, scintigraphy with I-metaiodobenzylguanidine can be an useful diagnostic tool when a paraganglioma is suspected. In case of vascularized cervico-mediastinal mass, such as paragangliomas or intrathoracic goiter, preoperative angiography should be performed to study the blood supply and orient the surgical approach.
CONCLUSION
Although uncommon, paragangliomas should be considered in the differential diagnosis of mediastinal masses, especially when an ectopic goiter is suspected.
PubMed: 34464842
DOI: 10.1016/j.ijscr.2021.106357 -
Ear, Nose, & Throat Journal Jan 2024Paragangliomas of the thyroid gland are rare and usually they originate from the inferior laryngeal paraganglia. In this case report, we describe the case of a... (Review)
Review
Paragangliomas of the thyroid gland are rare and usually they originate from the inferior laryngeal paraganglia. In this case report, we describe the case of a 78-year-old woman who presented with an incidental finding of thyroid nodule dislocating the trachea. After a systemic and radiological evaluation, right lobo-isthmectomy was performed, and the definitive diagnosis of paraganglioma was reached. Diagnosis of these thyroidal lesions could be difficult due to their rarity, to their specific radiological aspects and the need of employing specific histological staining techniques. Once the definitive diagnosis is reached, patients should undergo a systemic and genetic evaluation. Surgery is the gold standard treatment; radiotherapy should be considered when aggressive behavior is suspected. Regular long-lasting follow-up should be proposed to these patients considering the unpredictable behavior of these lesions.
Topics: Female; Humans; Aged; Thyroid Nodule; Paraganglioma; Thyroidectomy; Trachea
PubMed: 34384034
DOI: 10.1177/01455613211034595 -
International Journal of Molecular... Dec 2022Head and neck paragangliomas (HNPGLs) are rare neuroendocrine neoplasms derived from the parasympathetic paraganglia of the head and neck. At least 30% of HNPGLs are...
Head and neck paragangliomas (HNPGLs) are rare neuroendocrine neoplasms derived from the parasympathetic paraganglia of the head and neck. At least 30% of HNPGLs are linked to germline mutations, predominantly in genes. In this study, we analyzed an extended cohort of Russian patients with HNPGLs using whole-exome sequencing and found a highly frequent missense variant p.H102R in the gene. We determined this variant in 34% of the mutation carriers. This variant was associated with somatic loss of the gene wild-type allele. Data from the B allele frequency method and microsatellite and microdeletion analysis indicated evident LOH at the 11p15.5 region and potential loss of the whole of chromosome 11. We found hypermethylation of H19-DMR in all tumors, whereas differential methylation of KvDMR was mostly retained. These findings do not support the paternal transmission of :p.H102R but are in agreement with the Hensen model. Using targeted sequencing, we also studied the variant frequency in a control cohort; we found :p.H102R in 1.9% of cases, allowing us to classify this variant as pathogenic. The immunohistochemistry of SDHB showed that the :p.H102R mutation, even in combination with wild-type allele loss, does not always lead to SDH deficiency. The obtained results demonstrate the frequent variant associated with HNPGLs in a Russian population and support its pathogenicity. Our findings help with understanding the mechanism of tumorigenesis and are also important for the development of cost-effective genetic screening programs.
Topics: Humans; Succinate Dehydrogenase; Paraganglioma; Head and Neck Neoplasms; Genetic Testing; Alleles; Germ-Line Mutation
PubMed: 36614070
DOI: 10.3390/ijms24010628 -
Gene Jul 2023Pheochromocytoma and paraganglioma (PPGL), are rare neuroendocrine tumors arising from the adrenal medulla and extra-adrenal paraganglia, respectively. Up to about 60%...
Pheochromocytoma and paraganglioma (PPGL), are rare neuroendocrine tumors arising from the adrenal medulla and extra-adrenal paraganglia, respectively. Up to about 60% are explained by germline or somatic mutations in one of the major known susceptibility genes e.g., inNF1,RET,VHL, SDHx,MAXandHRAS. Targeted Next Generation Sequencing was performed in 14 sporadic tumors using a panel including 26 susceptibility genes to characterize the mutation profile. A total of 6 germline and 8 somatic variants were identified. The most frequent somatic mutations were found in NF1(36%), four have not been reported earlier in PCC or PGL. Gene expression profile analysis showed that NF1 mutated tumors are classified into RTK3 subtype, cluster 2, with a high expression of genes associated with chromaffin cell differentiation, and into a RTK2 subtype, cluster 2, as well with overexpression of genes associated with cortisol biosynthesis. On the other hand, by analyzing the entire probe set on the array and TCGA data, ALDOC was found as the most significantly down regulated gene in NF1-mutated tumors compared to NF1-wild-type. Differential gene expression analysis showed a significant difference between Nt - and Ct-NF1 domains in mutated tumors probably engaging different cellular pathways. Notably, we had a metastatic PCC with a Ct-NF1 frameshift mutation and when performing protein docking analysis, Ct-NF1 showed an interaction with Nt-FAK suggesting their involvement in cell adhesion and cell growth. These results show that depending on the location of the NF1-mutation different pathways are activated in PPGLs. Further studies are required to clarify their clinical significance.
Topics: Humans; Pheochromocytoma; Paraganglioma; Mutation; Adrenal Gland Neoplasms; Gene Expression Profiling
PubMed: 37062455
DOI: 10.1016/j.gene.2023.147432 -
The Annals of Thoracic Surgery Dec 2019Paragangliomas are rare neuroendocrine tumors derived from extraadrenal autonomic paraganglia, which may secrete catecholamines. They are potentially metastatic and...
Paragangliomas are rare neuroendocrine tumors derived from extraadrenal autonomic paraganglia, which may secrete catecholamines. They are potentially metastatic and require very long-term follow-up. Esophageal paragangliomas are extremely rare and present a diagnostic challenge. Lack of clinical suspicion and unrecognized catecholamine hypersecretion may lead to hemodynamic instabilities during surgery. Two patients with esophageal paragangliomas were previously reported. We report a 39-year-old man with a giant high-risk esophageal paraganglioma who underwent a hybrid minimally invasive 3-hole esophagectomy.
Topics: Adult; Deglutition Disorders; Endoscopy, Digestive System; Esophageal Neoplasms; Esophagectomy; Esophagoscopy; Follow-Up Studies; Humans; Israel; Male; Minimally Invasive Surgical Procedures; Neoplasm Invasiveness; Neoplasm Staging; Paraganglioma; Rare Diseases; Treatment Outcome
PubMed: 31077658
DOI: 10.1016/j.athoracsur.2019.03.106