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International Journal of Surgery Case... 2020Paragangliomas are tumors arising from paraganglia of the autonomic nervous system. They are rare tumors and occurrence inside the gallbladder is exceptionally rare....
INTRODUCTION
Paragangliomas are tumors arising from paraganglia of the autonomic nervous system. They are rare tumors and occurrence inside the gallbladder is exceptionally rare. Biliary paragangliomas are thought to be associated with the parasymphathetic fibers and are therefore non-functioning and benign. There are less than 10 cases reported in literature and majority are found incidentally upon cholecystectomy. There is no specific treatment for these tumors and resection is considered sufficient.
CASE PRESENTATION
63 year old female presented with recurrent bliary colic exacerbated by fatty food. She underwent imaging work up that was consistent with biliary dyskinesia. She underwent uneventful elective laparoscopic cholecystectomy and was doing well post-operatively. Pathology report was significant for chronic cholecystitis, no calculi, and a small focus of paraganglioma.
DISCUSSION
Little is known about primary gallbladder paragangliomas. Due to the non-functioning nature of these tumors there are felt to be benign. We know the paraganglia of the gallbladder consists of both parasymphathetic and sympathetic fibers. The sympathetic paragangliomas tend to act similar to pheochromocytomas and thus have malignant potential.
CONCLUSION
We presented a case in which a primary gallbladder paraganglioma was identified incidentally in a patient who presented with symptomatic biliary dyskinesia. Due to the rarity of primary gallbladder paraganglioma and limited reported cases, optimal follow up remains unknown.
PubMed: 33076192
DOI: 10.1016/j.ijscr.2020.09.095 -
BMC Medical Genomics Sep 2020Carotid and vagal paragangliomas (CPGLs and VPGLs) are rare neoplasms that arise from the paraganglia located at the bifurcation of carotid arteries and vagal trunk,...
BACKGROUND
Carotid and vagal paragangliomas (CPGLs and VPGLs) are rare neoplasms that arise from the paraganglia located at the bifurcation of carotid arteries and vagal trunk, respectively. Both tumors can occur jointly as multiple paragangliomas accounting for approximately 10 to 20% of all head and neck paragangliomas. However, molecular and genetic mechanisms underlying the pathogenesis of multiple paragangliomas remain elusive.
CASE PRESENTATION
We report a case of multiple paragangliomas in a patient, manifesting as bilateral CPGL and unilateral VPGL. Tumors were revealed via computed tomography and ultrasound study and were resected in two subsequent surgeries. Both CPGLs and VPGL were subjected to immunostaining for succinate dehydrogenase (SDH) subunits and exome analysis. A likely pathogenic germline variant in the SDHD gene was indicated, while likely pathogenic somatic variants differed among the tumors.
CONCLUSIONS
The identified germline variant in the SDHD gene seems to be a driver in the development of multiple paragangliomas. However, different spectra of somatic variants identified in each tumor indicate individual molecular mechanisms underlying their pathogenesis.
Topics: Carotid Artery Diseases; Cranial Nerve Neoplasms; Female; Humans; Middle Aged; Neoplasms, Multiple Primary; Paraganglioma; Succinate Dehydrogenase; Vagus Nerve Diseases; Vascular Neoplasms
PubMed: 32948182
DOI: 10.1186/s12920-020-00789-8 -
Archives of Pathology & Laboratory... Apr 2021The identification of paraganglia (PG) in the gallbladder (GB) is infrequent, and easily overlooked as it is not something routinely reported. Occasionally they may be...
CONTEXT.—
The identification of paraganglia (PG) in the gallbladder (GB) is infrequent, and easily overlooked as it is not something routinely reported. Occasionally they may be misinterpreted as neoplastic cells, such as low-grade carcinomas, germ cell tumors, or because of their close resemblance to neuroendocrine cells, as low-grade neuroendocrine neoplasms.
OBJECTIVE.—
To evaluate the incidence and histological features of PG of the GB in patients that underwent cholecystectomy, and discuss the potential misinterpretation of these benign structures as clusters of neoplastic cells.
DESIGN.—
A retrospective study of cholecystectomy specimens performed during a 6-month period were reviewed for identification of PG. Immunohistochemical studies for chromogranin, synaptophysin, S100, and cytokeratin AE1/AE3 were performed in selected cases.
RESULTS.—
A total of 365 GBs were reviewed and in 16 cases (4.4%) PG was identified within the subserosal connective tissue of the GB wall or cystic duct adjacent to small capillaries, nerves, and ganglia. They consisted of well-demarcated, lobular structures ranging in size from 0.2 to 0.5 cm, which were predominantly composed of chief cells, with strong expression for chromogranin and synaptophysin and negative CKAE1/AE3, and a minor component of S100-positive sustentacular cells.
CONCLUSIONS.—
PG is an uncommon finding with a prevalence of 4.4% in our study. Awareness of their location, histologic features, and immunohistochemical profile may help practicing pathologists to confirm their benign nature, avoid a misdiagnosis of malignancy, and prevent unnecessary diagnostic work-up and treatment.
Topics: Adult; Aged; Biomarkers; Cholecystectomy; Diagnosis, Differential; Female; Gallbladder; Gallbladder Neoplasms; Humans; Immunohistochemistry; Incidental Findings; Male; Middle Aged; Paraganglia, Chromaffin; Predictive Value of Tests; Retrospective Studies
PubMed: 32886744
DOI: 10.5858/arpa.2020-0041-OA -
Frontiers in Veterinary Science 2020Over the last 20 years, substantial knowledge has been developed in Veterinary oncology, and tumors previously reported only in humans have been identified in animals....
Over the last 20 years, substantial knowledge has been developed in Veterinary oncology, and tumors previously reported only in humans have been identified in animals. Primary paragangliomas of the tongue are extremely rare tumors in human beings and have never been reported in animals. A Chow Chow dog showed an ulcerated nodule at the lingual body, deeply infiltrated, which extended to the base of the tongue. A full clinical and pathological investigation was conducted, and a post-surgical follow-up of 6 months did not detect recurrence. Cytological, histological, and immunohistochemical features are presented and support the diagnosis of lingual paraganglioma. The paraganglioma of the tongue reported in this Chow Chow dog shares many similarities with the human counterpart.
PubMed: 32851012
DOI: 10.3389/fvets.2020.00422 -
Vascular Apr 2021Pheochromocytomas are rare catecholamine-secreting neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla or extra-adrenal paraganglia. The most...
OBJECTIVES
Pheochromocytomas are rare catecholamine-secreting neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla or extra-adrenal paraganglia. The most common location of these tumors is within the adrenal medulla. Extra-adrenal pheochromocytomas (EAPs) may occur in any portion of the paraganglion system. The most common location of EAPs is at the organ of Zuckerkandl, which is a collection of chromaffin cells near the origin of the inferior mesenteric artery.
METHODS
We present a case of an EAP of the organ of Zuckerkandl incidentally discovered and resected during urgent open repair of a symptomatic 6.7-cm juxtarenal abdominal aortic aneurysm (AAA).
RESULTS
The patient underwent successful open surgical repair of a juxtarenal AAA and resection of the pheochromocytoma.
CONCLUSIONS
Concomitant pheochromocytomas and abdominal aortic aneurysms are rare, with a small number described in the literature. We describe the case of a simultaneous EAP of the organ of Zuckerkandl and AAA repair. This case demonstrates that these lesions can be safely resected in the same setting as AAA repair.
Topics: Adrenal Gland Neoplasms; Aged; Aortic Aneurysm, Abdominal; Blood Vessel Prosthesis Implantation; Humans; Incidental Findings; Male; Para-Aortic Bodies; Pheochromocytoma; Treatment Outcome
PubMed: 32838691
DOI: 10.1177/1708538120950868 -
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 -
The Canadian Journal of Cardiology May 2020The genetic architecture of blood pressure (BP) now includes more than 30 genes, with rare mutations resulting in inherited forms of hypertension or hypotension, and... (Review)
Review
The genetic architecture of blood pressure (BP) now includes more than 30 genes, with rare mutations resulting in inherited forms of hypertension or hypotension, and 1477 common single-nucleotide polymorphisms (SNPs). These signify the heterogeneity of the BP phenotype and support the mosaic theory of hypertension. The majority of monogenic syndromes involve the renin-angiotensin-aldosterone system and the adrenal glucocorticoid pathway, and a smaller fraction are due to rare neuroendocrine tumours of the adrenal glands and the sympathetic and parasympathetic paraganglia. Somatic mutations in genes coding for ion channels (KCNJ5 and CACNA1D) and adenosine triphosphatases (ATP1A1 and ATP2B3) highlight the central role of calcium signalling in autonomous aldosterone production by the adrenal gland. The per-SNP BP effect is small for SNPs according to genome-wide association studies (GWAS), and all of the GWAS-identified BP SNPs explain ∼ 27% of the 30%-50% estimated heritability of BP. Uromodulin is a novel pathway identified by GWAS, and it has now progressed to a genotype-directed clinical trial. The majority of the GWAS-identified BP SNPs show pleiotropic associations, and unravelling those signals and underpinning biological pathways offers potential opportunities for drug repurposing. The GWAS signals are predominantly from Europe-centric studies with other ancestries underrepresented, however, limiting the generalisability of the findings. In this review, we leverage the burgeoning list of polygenic and monogenic variants associated with BP regulation along with phenome-wide studies in the context of the mosaic theory of hypertension, and we explore potential translational aspects that underlie different hypertension subtypes.
Topics: Blood Pressure; Genetic Pleiotropy; Genetic Predisposition to Disease; Genome-Wide Association Study; Genomics; Humans; Hypertension; Microfilament Proteins; Multifactorial Inheritance; Pharmacogenetics; Polymorphism, Single Nucleotide; Uromodulin
PubMed: 32389342
DOI: 10.1016/j.cjca.2020.03.001 -
Pathology International Jul 2020
Topics: Adenocarcinoma; Aged; Colon, Sigmoid; Colonic Neoplasms; Diagnosis, Differential; Humans; Lymphatic Metastasis; Male; Mesocolon; Neuroendocrine Tumors; Paraganglioma
PubMed: 32342607
DOI: 10.1111/pin.12939 -
Case Reports in Endocrinology 2020Takotsubo syndrome is a rare but emerging form of acute reversible myocardial injury characterized by transient systolic LV dysfunction, often related to emotional or...
Takotsubo syndrome is a rare but emerging form of acute reversible myocardial injury characterized by transient systolic LV dysfunction, often related to emotional or physical stress. Pheochromocytoma is increasingly recognised as another possible trigger. Pheochromocytoma is a rare catecholamine-secreting tumour arising from chromaffin cells within the adrenal medulla or extra-adrenal paraganglia. The pathognomonic quartet of paroxysmal hypertension, palpitations, headache, and diaphoresis is rarely present, and diagnosis is often delayed. We describe a 43-year-old formerly healthy patient with an adrenal pheochromocytoma, presenting as an "inverted" takotsubo syndrome complicated with acute heart failure and pulmonary oedema.
PubMed: 32257461
DOI: 10.1155/2020/2521046 -
Case Reports in Endocrinology 2020. Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal...
. Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal autonomic paraganglia, respectively. Only 1-3% of head and neck PGL (HNPGL) show elevated catecholamines, and at least 30% of Pheo and PGL (PCPG) are associated with genetic syndromes caused by germline mutations in tumor suppressor genes and proto-oncogenes. . A 33-year-old man with a past medical history of resection of an abdominal PGL at the age of eleven underwent a CT scan after a mild traumatic brain injury revealing an incidental brain tumor. The diagnosis of a functioning PGL was made, and further testing was undertaken with a PET-CT with 68Ga-DOTATATE, SPECT-CT 131-MIBG, and genetic testing. . The usual clinical presentation of functioning PCPG includes paroxistic hypertension, headache, and diaphoresis, sometimes with a suggestive family history in 30-40% of cases. Only 20% of PGL are located in head and neck, of which only 1-3% will show elevated catecholamines. Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. Genetic testing is important in patients with PCPG since 31% will present a germline mutation. In this particular patient, an gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG. gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG.
PubMed: 32082649
DOI: 10.1155/2020/6827109