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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 -
Life (Basel, Switzerland) Dec 2022Diabetes mellitus (DM) is a metabolic disorder whose prevalence has continuously increased worldwide and is associated with dysfunction of the autonomic nervous system...
Diabetes mellitus (DM) is a metabolic disorder whose prevalence has continuously increased worldwide and is associated with dysfunction of the autonomic nervous system and, in particular, that of the sympathetic nervous system (SNS). The objective of this study was to analyze the interaction of DM and the SNS, building a model of sympathectomized diabetic rats to determine alterations in the content of CA (catecholamines) in different intra-abdominal organs. Sympathectomy was conducted with guanethidine (GNT). Additionally, DM was induced with STZ (Streptozotocin). Treatment with GNT decreased norepinephrine (NE) content in all analyzed tissues, with significant differences found in the paraganglia, liver, pancreas, duodenum, and heart compared to the control group. With respect to epinephrine (E), which was only found in the liver, pancreas, and heart, presenting significant differences (p < 0.05) in the heart, a decrease in its concentration was observed for all of the experimental groups with respect to the control. The decrease in dopamine (DA) content due to the GNT−STZ treatment was 30.1% in the heart with respect to the diabetic (STZ) group. The amount of CA in the adrenal medulla indicates the effect of sympathectomy on the GNT group where there was a significant reduction (p < 0.05) of DA. These findings suggest that the elimination of the sympathetic nervous system in diabetic organisms contributed to a decrease in blood glucose; likewise, an alteration in the levels of CA was observed in the different selected organs, possibly attributed to the severity, duration, and pathogenesis of the complications of acute and chronic DM.
PubMed: 36556512
DOI: 10.3390/life12122147 -
Journal of Clinical Medicine Dec 2022Paragangliomas are highly vascularised and often heritable tumors derived from the paraganglia. They are typically discovered in the retroperitoneal space as well as the...
Paragangliomas are highly vascularised and often heritable tumors derived from the paraganglia. They are typically discovered in the retroperitoneal space as well as the head and neck region but are rarely encountered in the liver parenchyma. We report a case of a primary functioning hepatic paraganglioma and provide an up-to-date literature review of patients with such tumors. We present a case of functioning paraganglioma in a 34-year-old female patient who suffered a solitary lesion in her left lateral lobe with symptoms of hypertension since pregnancy. She did not have any family history and her pre-pregnancy examination was negative. An abdominal CT imaging revealed a 6.5 × 5.7 cm liver lesion in segments II and III. Laboratory investigations identified elevation in plasma-free catecholamines. With sufficient preoperative preparation, the patient underwent laparoscopic left hemihepatectomy. Immunohistochemical staining revealed Syn (+) tumor cell nests surrounded by S-100 sustentacular cells (+), providing a definitive diagnosis of paraganglioma. The patient recovered uneventfully without signs of recurrence during a 1-year follow-up period. Our case demonstrates that primary refractory hypertension in pregnancy should be screened for paraganglioma through abdominal ultrasound and plasma free catecholamines. On the other hand, laparoscopic surgery is technically safe and feasible for the treatment of patients with hepatic paragangliomas in favorable locations.
PubMed: 36555899
DOI: 10.3390/jcm11247282 -
Iranian Journal of Otorhinolaryngology Nov 2022Generally, glomus tumors are considered tumors of the autonomic system arising from chromaffin cells of the parasympathetic paraganglia of the skull base and neck....
INTRODUCTION
Generally, glomus tumors are considered tumors of the autonomic system arising from chromaffin cells of the parasympathetic paraganglia of the skull base and neck. Glomus tympanicum is the most common primary tumor of the middle ear cavity and it arises from the paraganglia of the middle ear.
CASE REPORT
We present a case of glomus tympanicum presented in a 70-year-old woman, complicated with facial nerve palsy which at first sight was misdiagnosed as cholesteatoma. Patient presented in our clinic because of otorrhea, pulsatile tinnitus and hearing loss in the right ear. However, facial nerve function was good in the first examination (40 days before the surgery). Eventually, she treated successfully with a canal wall down mastoidectomy. Technique had been chosen because of the mass size and the involvement of external auditory canal, after a discussion with the patient.
CONCLUSIONS
Although histologically benign, glomus tympanicum is slow growing and destructs adjacent tissues potentially. The two most common complaints are hearing loss (conductive) and pulsatile tinnitus. These neoplasms are more common in women and they can be diagnosed by CT or MRI scan. It is of high importance physicians suspect a glomus tumor when patient 's clinical findings are hearing loss and pulsatile tinnitus and use an intravascular agent in imaging so that the differential diagnosis will be supported.
PubMed: 36474487
DOI: 10.22038/IJORL.2022.64737.3217 -
Frontiers in Oncology 2022Paraganglioma (PGL) is a neuroendocrine tumor that arises from the sympathetic or parasympathetic paraganglia. Primary thyroid PGL is extremely rare. PGL may be...
Paraganglioma (PGL) is a neuroendocrine tumor that arises from the sympathetic or parasympathetic paraganglia. Primary thyroid PGL is extremely rare. PGL may be difficult to diagnose on frozen sections because its histopathological features, such as polygonal tumor cells with eosinophilic cytoplasm arranged irregularly, overlap with those of thyroid follicular adenoma. We present a case of thyroid PGL in a female patient and provide a detailed description of the patient's clinicopathologic characteristics. Cervical computed tomography showed a left thyroid mass with uneven density. Intraoperative frozen section analysis showed an uneven fibrous septa and rich networks of delicate vessels surrounding tumor cell nests. The tumor cells were polygonal or epithelioid with eosinophilic cytoplasm, arranged in a nest, trabecular, or organoid pattern were and diagnosed as thyroid follicular adenoma. However, in postoperative immunohistochemistry, these were diagnosed as thyroid PGL. The postoperative recovery was uneventful. The patient showed no signs of tumor recurrence or metastasis until 16 months of follow-up. Herein, we summarize the characteristic features of thyroid PGL based on frozen section analysis. In the appropriate clinical context, its proper use as diagnostic and differential diagnostic management strategies is recommended.
PubMed: 36387140
DOI: 10.3389/fonc.2022.1038076 -
Endocrine-related Cancer Jan 2023Mitochondrial DNA (mtDNA) alterations have been reported in different types of cancers and are suggested to play important roles in cancer development and metastasis.... (Review)
Review
Mitochondrial DNA (mtDNA) alterations have been reported in different types of cancers and are suggested to play important roles in cancer development and metastasis. However, there is little information about its involvement in pheochromocytomas and paragangliomas (PCCs/PGLs) formation. PCCs and PGLs are rare endocrine tumors of the chromaffin cells in the adrenal medulla and extra-adrenal paraganglia that can synthesize and secrete catecholamines. Over the last 3 decades, the genetic background of about 60% of PCCs/PGLs involving nuclear DNA alterations has been determined. Recently, a study showed that mitochondrial alterations can be found in around 17% of the remaining PCCs/PGLs. In this review, we summarize recent knowledge regarding both nuclear and mitochondrial alterations and their involvement in PCCs/PGLs. We also provide brief insights into the genetics and the molecular pathways associated with PCCs/PGLs and potential therapeutical targets.
Topics: Humans; DNA, Mitochondrial
PubMed: 36219865
DOI: 10.1530/ERC-22-0217 -
Cureus Aug 2022Head and neck paragangliomas (PGLs) most commonly derive from the carotid body, jugulotympanic, vagal, and laryngeal paraganglia. Thyroid PGLs originate in the inferior...
Thyroid Paraganglioma With Medullary Carcinoma: A Unique Combination in a Patient in Association With Multiple Endocrine Neoplasia Type 2B Syndrome With Prolonged Survival.
Head and neck paragangliomas (PGLs) most commonly derive from the carotid body, jugulotympanic, vagal, and laryngeal paraganglia. Thyroid PGLs originate in the inferior laryngeal paraganglion, which may lie inside the thyroid parenchyma. Intrathyroid PGLs are rare with approximately 75 cases reported to date, mostly as solitary lesions. The coexistence of thyroid PGL with medullary thyroid carcinoma (MTC) has not been reported. Here, we report a unique case of intrathyroid PGL concomitant with MTC in the context of multiple endocrine neoplasia type 2B syndrome. Interestingly, the patient showed a prolonged survival with good clinical response to tyrosine kinase inhibitors, despite her advanced metastatic MTC. We discuss the challenges in pathology, differential diagnosis, and genetic background for the development of these thyroid lesions.
PubMed: 36176816
DOI: 10.7759/cureus.28423 -
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 -
Frontiers in Surgery 2022Paraganglioma is a kind of neuroendocrine tumor that originates from paraganglia outside the adrenal gland. Gastrointestinal tract paraganglioma is very rare and only...
BACKGROUND
Paraganglioma is a kind of neuroendocrine tumor that originates from paraganglia outside the adrenal gland. Gastrointestinal tract paraganglioma is very rare and only four cases of paraganglioma originating in the colon have been reported.
CASE PRESENTATION
We report a case of metastatic paraganglioma originating in the colon, in which the differential diagnosis was established by comprehensively considering clinical information, histology, immunohistochemistry, and findings of fluorescence hybridization and next generation sequencing analyses. The patient has remained well for over 14 months after the treatment.
CONCLUSION
Since all paraganglioma have metastatic potential, we believe that radical surgical resection and regular follow-up are necessary. Genetic testing may be indicative of metastatic potential and prognosis. Because colonic paraganglioma is very rare, differential diagnosis is very important. Our report provides experience for the diagnosis and study of paraganglioma in rare sites.
PubMed: 36017518
DOI: 10.3389/fsurg.2022.961514 -
Diagnostics (Basel, Switzerland) Jul 2022Paragangliomas are rare, non-epithelial neuroendocrine neoplasms originating in paraganglia, for instance the adrenal medulla, or at extra-adrenal locations. The aim of... (Review)
Review
Paragangliomas are rare, non-epithelial neuroendocrine neoplasms originating in paraganglia, for instance the adrenal medulla, or at extra-adrenal locations. The aim of this study was to review the literature regarding abdominal extra-adrenal paragangliomas diagnosed pre-operatively with fine-needle biopsy (FNA and/or FNB). The PubMed database was searched to identify such cases, using a specific algorithm and inclusion/exclusion criteria. An unpublished case from our practice was also added to the rest of the data, resulting in a total of 36 cases for analysis. Overall, 24 (67%) lesions were found in females, whereas 12 (33%) in males. Most (21/36; 58.33%) were identified around and/or within the pancreatic parenchyma. FNA and/or FNB reached or suggested a paraganglioma diagnosis in 17/36 cases (47.22%). Of the preoperative misdiagnoses, the most common was an epithelial neuroendocrine tumor (NET). Regarding follow-up, most patients were alive with no reported recurrence; however, 5/36 patients exhibited a recurrence or a widespread disease, whereas one patient died 48 months following her diagnosis. In two patients, transient hypertension was reported during the EUS-FNA procedure. In conclusion, this study showed that the preoperative diagnosis of these lesions is feasible and, while diagnostic pitfalls exist, they could significantly be avoided with the application of immunochemistry.
PubMed: 36010170
DOI: 10.3390/diagnostics12081819