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Asian Journal of Surgery May 2024
PubMed: 38724368
DOI: 10.1016/j.asjsur.2024.04.131 -
Frontiers in Endocrinology 2024Vagal paraganglioma (VPGL) is a rare neuroendocrine tumor that originates from the paraganglion associated with the vagus nerve. VPGLs present challenges in terms of...
Vagal paraganglioma (VPGL) is a rare neuroendocrine tumor that originates from the paraganglion associated with the vagus nerve. VPGLs present challenges in terms of diagnostics and treatment. VPGL can occur as a hereditary tumor and, like other head and neck paragangliomas, is most frequently associated with mutations in the genes. However, data regarding the genetics of VPGL are limited. Herein, we report a rare case of a 41-year-old woman with VPGL carrying a germline variant in the gene. Using whole-exome sequencing, a variant, p.S249R, was identified; no variants were found in other PPGL susceptibility and candidate genes. Loss of heterozygosity analysis revealed the loss of the wild-type allele of the gene in the tumor. The pathogenic effect of the p.S249R variant on FH activity was confirmed by immunohistochemistry for S-(2-succino)cysteine (2SC). Potentially deleterious somatic variants were found in three genes, , , and . The latter two encode transcriptional regulators that can impact gene expression deregulation and are involved in tumor development and progression. Moreover, -mutated VPGL was characterized by a molecular phenotype different from -mutated PPGLs. In conclusion, the association of genetic changes in the gene with the development of VPGL was demonstrated. The germline variant : p.S249R and somatic deletion of the second allele can lead to biallelic gene damage that promotes tumor initiation. These results expand the clinical and mutation spectra of -related disorders and improve our understanding of the molecular genetic mechanisms underlying the pathogenesis of VPGL.
Topics: Adult; Female; Humans; Acid Anhydride Hydrolases; Cranial Nerve Neoplasms; Exome Sequencing; Germ-Line Mutation; Paraganglioma; Vagus Nerve Diseases
PubMed: 38721148
DOI: 10.3389/fendo.2024.1381093 -
Case Reports in Otolaryngology 2024The carotid body paraganglioma is a rare benign neoplasm arising from the chemoreceptor cells of the carotid bulb. The carotid body has the largest collection of...
The carotid body paraganglioma is a rare benign neoplasm arising from the chemoreceptor cells of the carotid bulb. The carotid body has the largest collection of paraganglia in the head and neck with 60-70% of head and neck paraganglioma. Paraganglia are clusters of cells originating from the neural crest with histological and cytochemical characteristics of neuroendocrine cells. It is mostly asymptomatic in early presentation but become symptomatic and difficult to manage when the tumor is large. We present a case of a 26-year-old male who presented with a painless, pulsatile, progressively increasing left lateral neck swelling of 5 years duration with Shamblin IIIa. The diagnosis of the tumor was confirmed based on clinical features, histology, and radiological findings. We had difficult surgical dissection of the tumor with neurovascular damage.
PubMed: 38715736
DOI: 10.1155/2024/9963521 -
Kardiologia Polska 2024According to the latest guidelines of European and American medical societies, genetic testing (GT) is essential in cardiovascular diseases for establishing diagnosis,...
Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities.
According to the latest guidelines of European and American medical societies, genetic testing (GT) is essential in cardiovascular diseases for establishing diagnosis, predicting prognosis, enabling initiation of disease-modifying therapy, and preventing sudden cardiac death. The GT result may be relevant for cascade GT in the patient's relatives, for planning his/her profession and physical activity, and for procreative counseling. This position statement has been prepared due to the scarcity of GT in cardiovascular diseases in Poland and the need to expand its availability. We give a concise description of the genetic background of cardiomyopathies, channelopathies, aortopathies, familial hypercholesterolemia, pheochromocytomas, and paragangliomas. The article discusses various aspects of GT in specific populations, such as children or athletes, and also presents prenatal genetic diagnostics. We propose recommendations for GT and counselling, which take into account Polish needs and capabilities. We give an outline of legal regulations, good clinical practice in GT with respect for patient rights, the role of cardiologists and clinical geneticists in GT planning and post-test counseling, and the requirements for laboratories performing genetic tests. The Polish Cardiac Society and Polish Society of Human Genetics experts speak with one voice with cardiovascular patient communities to underline the need for a law on GT and increasing the availability of GT for cardiovascular patients.
Topics: Humans; Poland; Cardiovascular Diseases; Genetic Testing; Societies, Medical; Cardiology; Genetic Counseling; Female
PubMed: 38712785
DOI: 10.33963/v.phj.100490 -
Cureus Apr 2024Paragangliomas are abnormal growth cells of neuroectodermal origin that arise from the autonomic nervous system. Head and neck paragangliomas are rare, commonly...
Paragangliomas are abnormal growth cells of neuroectodermal origin that arise from the autonomic nervous system. Head and neck paragangliomas are rare, commonly benign and often have a hereditary origin. Head and neck paragangliomas most commonly arise in the carotid bodies, vagus and glossopharyngeal nerves, and the sympathetic chain. However, we present a case of a paraganglioma arising from the recurrent laryngeal nerve, a phenomenon that has been reported only three times before in the literature. The patient is a 49-year-old female with a past medical history of bilateral carotid body paragangliomas and Hashimoto's disease. She has a family history of paragangliomas in her father and distant relatives and carries a pathogenic variation in the succinate-dehydrogenate subunit D () gene, which was first identified through the original linkage studies involving her family. She presented with a mild swelling sensation in her neck. A thyroid ultrasound revealed a right lobe nodule measuring 3.3 x 2.2 x 2.1 cm. Fine needle aspiration of the nodule revealed an atypia of undetermined significance with a risk of malignancy judged as 50%. A total thyroidectomy was performed due to concern for malignancy. During the operation, the thyroid was nodular and hypervascular. At the right thyroid lobe, there was a pearlescent tubular structure approximately 4-5 mm in size. This was stimulated via intraoperative nerve monitoring and was consistent with being a part of the right recurrent laryngeal nerve. Pathology of the tubular structure revealed a 2.8 cm paraganglioma of the right recurrent laryngeal nerve. An incidental 0.1 cm papillary thyroid microcarcinoma within the left thyroid lobe was also noted. Our patient presented with a history of paragangliomas at a very young age and bilaterality, features that are highly characteristic of hereditary disease. Through the original linkage studies involving her family, her father was recognized as being an obligate carrier at risk of bearing occult paragangliomas. Imaging showed that he carried three paragangliomas. Identification of the familial syndrome as well as testing has now become widely available. Recognizing hereditary paraganglioma and other cancer susceptibility syndromes can help foster more knowledge on the subject and improve clinical outcomes. More attention should be put on the presentation of paragangliomas in an atypical location, such as in our case.
PubMed: 38707130
DOI: 10.7759/cureus.57609 -
Cureus Apr 2024Paragangliomas are neuroendocrine tumors that arise from the embryonic neural crest cells of the extra-adrenal chromaffin and non-chromaffin cellular system....
Paragangliomas are neuroendocrine tumors that arise from the embryonic neural crest cells of the extra-adrenal chromaffin and non-chromaffin cellular system. Paragangliomas arising from the laryngeal paraganglia, which occur in the thyroid and larynx, are a rare subset of paragangliomas compared to the more common locations of the carotid body, vagale, jugular, and tympanic paragangliomas. The preoperative diagnosis of both thyroid and laryngeal paragangliomas may pose a challenge due to cytological, pathological, and imaging non-specificity that overlaps with many other neoplasms. These lesions may be associated with significant intraoperative bleeding and complicated excision with adherence to nearby structures, including the recurrent laryngeal nerve. This article discusses the imaging appearance, pathological features, clinical and operative considerations and manifestations, and management of head and neck paragangliomas, as seen in two patients at our institution.
PubMed: 38707127
DOI: 10.7759/cureus.57613 -
Case Reports in Oncological Medicine 2024Paragangliomas are rare neuroendocrine tumors that arise from the paraganglia, which are clusters of neuroendocrine cells associated with the autonomic nervous system....
Paragangliomas are rare neuroendocrine tumors that arise from the paraganglia, which are clusters of neuroendocrine cells associated with the autonomic nervous system. These tumors are commonly found in the adrenal medulla but can also occur in other locations outside the adrenal gland. Here, we present a case report of a slow-growing paraganglioma in the left neck with spinal metastasis in a 60-year-old man. This case highlights the importance of considering paraganglion tumors in the differential diagnosis of neck masses and the need for early diagnosis and management to prevent potential complications. Importantly, both the clinical picture and anatomical location of these tumors is important when determining treatment plans.
PubMed: 38706789
DOI: 10.1155/2024/2025115 -
Frontiers in Endocrinology 2024For pheochromocytoma and paraganglioma (PPGL), the efficacy of percutaneous ablative therapies in achieving control of metastatic tumors measuring <3 cm had been...
For pheochromocytoma and paraganglioma (PPGL), the efficacy of percutaneous ablative therapies in achieving control of metastatic tumors measuring <3 cm had been demonstrated in only few reports, and intraoperative radiofrequency ablation (RFA) of locally invasive primary PPGLs has not been reported. We presented the case of a 31-year-old man who had a 9-cm functioning unresectable PPGL. He was treated with 13 cycles of cytotoxic chemotherapy without objective tumor response, according to the Response Evaluation Criteria in Solid Tumors (RECIST). Subsequently, magnetic resonance imaging revealed a 9.0 × 8.6 × 6.0-cm retroperitoneal mass that extended to the inferior portion of the inferior vena cava, the inferior mesenteric artery, and the infrarenal aorta. Biochemical evaluation demonstrated high level of plasma normetanephrine (20.2 nmol/L, normal range <0.9 nmol/L). Genetic investigation showed the germline pathogenic variant c.1591delC (p. Ser198Alafs*22) in the gene. I-metaiodobenzylguanidine scintigraphy was negative and Ga-dotatate PET-CT scan showed high tumor uptake without distant metastases. On open laparotomy, tumor debulking was not possible. Therefore, intraoperative RFA was performed by a highly experienced team of interventional radiologists. At 12 months after the RFA, the tumor volume decreased from 208 to 45 mL (78%), plasma normetanephrine decreased from 20.2 to 2.6 nmol/L (87%), and the doxazosin dose was reduced from 16 to 8 mg/day. To our best knowledge, this was the first report on intraoperative RFA that markedly reduced the size of a large primary unresectable PPGL, along with clinical and biochemical responses.
Topics: Humans; Male; Adult; Paraganglioma; Radiofrequency Ablation; Abdominal Neoplasms; Retroperitoneal Neoplasms
PubMed: 38686210
DOI: 10.3389/fendo.2024.1346052 -
Frontiers in Oncology 2024Paraganglioma (PGL) is rare, and PGL that arises from the urogenital system is even rarer. Here we report a case of PGL in spermatic cord and review the relevant...
Paraganglioma (PGL) is rare, and PGL that arises from the urogenital system is even rarer. Here we report a case of PGL in spermatic cord and review the relevant literatures. We encountered a 15-year-old boy with a history of hypertension for almost 2 years, accompanied with headache and palpitations. His serum and urine catecholamines were elevated, but no adrenal lesions were detected, suggesting the existence of PGL. Upon physical examination, a painless nodule adherent to the spermatic cord in the right scrotum was found. A systemic Ga DOTATATE PET-CT was then performed, and it revealed a mass with high DOTATATE uptake in the right scrotum. The CT, MRI, and ultrasound images showed the abundant blood supply to the tumor. Based on the above-mentioned imaging and biochemical information, a diagnosis of PGL was made prior to surgery. After 2 weeks of preparation with Cardura, an open surgery was performed to remove the tumor together with the right testis and right epididymis. The blood pressure increased to 180/100 mmHg when the tumor was touched intraoperatively and decreased to 90/55 mmHg after the tumor was removed. Post-operative pathology confirmed our diagnosis of PGL originating from the spermatic cord. Immunohistochemical (IHC) staining showed SDHB (+), CgA (+), synaptophysin (+), GATA3 (+), CD56 (+), sertoli cells S-100 (+), and Ki67 (5%). Genetic testing revealed a missense mutation in the SDHA gene. Only 16 cases of spermatic cord PGL have been reported to date. Although it is easy to diagnose by histology and IHC examinations, preoperative diagnosis is quite important as it can actually reduce intraoperative complications.
PubMed: 38680861
DOI: 10.3389/fonc.2024.1373727