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Medicina (Kaunas, Lithuania) Jan 2024: Paragangliomas of the head and neck are rare neuroendocrine tumors originating from the paraganglia, which might be sympathetic or parasympathetic. Laryngeal...
: Paragangliomas of the head and neck are rare neuroendocrine tumors originating from the paraganglia, which might be sympathetic or parasympathetic. Laryngeal paragangliomas are the rarest subtype of these tumors, with only 1.41% of all paragangliomas, arising from the supraglottic or subglottic paraganglia of the larynx. The vast majority of them are benign, but there are some cases in which they turn out to be malignant, and the only way to know with certainty the difference between them is when we identify distant metastases. The aim of this article is to share our experience with a rare case of laryngeal paraganglioma and review the clinical characteristics, methods of diagnostic, necessary investigation prior to the operation, and surgical management of this type of tumor. : We present the case of a 68-year-old female patient, a non-smoker, who accused dysphagia, dysphonia, foreign body sensation, chronic cough, and hoarseness for six months. We performed a tracheostomy prior to biopsy to secure the airways in case of bleeding and then took a few biopsy samples. The histopathological exam revealed the presence of a laryngeal paraganglioma. An enhanced CT scan was performed in order to describe the localization, size, and invasion of the tumor. We also measured the vanillylmandelic acid from the urine to determine if the tumor produced catecholamines alongside a full cardiology and endocrinology examinations. In order to prevent massive bleeding during the operation, chemoembolization was attempted before surgery, but it was unsuccessful due to an anatomical variation of the left superior thyroid artery. She underwent surgery, first through transoral endoscopic microsurgery; however, we decided to undertake an external approach because of poor bleeding control, even though we had ligated both the superior thyroid artery and the external carotid artery, with a thyrotomy and laryngofissure achieving the complete resection of the tumor. : The patient was discharged 10 postoperative days later, with the recommendation of introducing food step-by-step from liquids to solids. She was decannulated after 30 days, with no complications regarding breathing, phonation, or deglutition. Twelve months after the surgery, we did not identify any local relapses of distant metastases. : Laryngeal paragangliomas are rare neuroendocrine tumors that arise from the laryngeal paraganglia. Surgery is the best treatment option available, and it can be done by either an external approach or by transoral endoscopy. Enhanced CT or MRI, as well as full cardiological and endocrinological evaluation are mandatory prior to the operation. Measuring the catecholamines levels show the if the tumor is secretory. Controlling the bleeding poses the biggest challenge in performing the resection of the tumor, especially when a transoral endoscopic approach is chosen. Further standardized follow-up guidelines are required in the future.
Topics: Female; Humans; Aged; Neoplasm Recurrence, Local; Paraganglioma; Laryngeal Neoplasms; Neuroendocrine Tumors; Catecholamines
PubMed: 38399485
DOI: 10.3390/medicina60020198 -
Annals of the Royal College of Surgeons... May 2011The retroperitoneum can host a wide spectrum of pathologies, including a variety of rare benign tumours and malignant neoplasms that can be either primary or metastatic... (Review)
Review
INTRODUCTION
The retroperitoneum can host a wide spectrum of pathologies, including a variety of rare benign tumours and malignant neoplasms that can be either primary or metastatic lesions. Retroperitoneal tumours can cause a diagnostic dilemma and present several therapeutic challenges because of their rarity, relative late presentation and anatomical location, often in close relationship with several vital structures in the retroperitoneal space.
MATERIALS AND METHODS
A comprehensive literature search was conducted using PubMed. Relevant international articles published in the last ten years were assessed. The keywords for search purposes included: retroperitoneum, benign, sarcoma, neoplasm, diagnosis and surgery, radiotherapy, chemotherapy. The search was limited to articles published in English. All articles were read in full by the authors and selected for inclusion based on relevance to this article.
RESULTS
Tumours usually present late and cause symptoms or become palpable once they have reached a significant size. Retroperitoneal tumours are best evaluated with good quality cross-sectional imaging and preoperative histology by core needle biopsy is required when imaging is non-diagnostic. Sarcomas comprise a third of retroperitoneal tumours. Other retroperitoneal neoplasms include lymphomas and epithelial tumours or might represent metastatic disease from known or unknown primary sites. The most common benign pathologies encountered in the retroperitoneum include benign neurogenic tumours, paragangliomas, fibromatosis, renal angiomyolipomas and benign retroperitoneal lipomas.
CONCLUSIONS
Complete surgical resection is the only potential curative treatment modality for retroperitoneal sarcomas and is best performed in high-volume centres by a multidisciplinary sarcoma team. The ability completely to resect a retroperitoneal sarcoma and tumour grade remain the most important predictors of local recurrence and disease-specific survival.
Topics: Chemotherapy, Adjuvant; Humans; Neoplasm Recurrence, Local; Retroperitoneal Neoplasms; Sarcoma; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 21944791
DOI: 10.1308/003588411X571944 -
Hereditary Cancer in Clinical Practice Oct 2006Paragangliomas are rare tumours of the autonomic nervous system and occur in sporadic and hereditary forms. They are usually benign and have a low mortality. However,...
Paragangliomas are rare tumours of the autonomic nervous system and occur in sporadic and hereditary forms. They are usually benign and have a low mortality. However, they cause significant morbidity related to their mass effect. Genetic predisposition can occur within the familial tumour syndromes multiple endocrine neoplasia type 2 (MEN 2), von Hippel-Lindau (VHL) and neurofibromatosis type 1 (NF-1), or be due to mutations in genes specific to the development of paraganglioma only. Compared to sporadic forms, familial paragangliomas tend to present at a younger age and at multiple sites. Tumours should be diagnosed and resected as early as possible, as it has been shown that morbidity is related to tumour size. This article gives an overview of the current literature on the origin of the different forms of paragangliomas, DNA diagnosis, as well as biochemical and radiological screening guidelines.
PubMed: 20223020
DOI: 10.1186/1897-4287-4-4-169 -
Journal of Surgical Oncology Oct 2012The adrenal glands are complex structures from which a variety of benign and malignant tumors may arise and are a common site of metastatic disease. Several... (Review)
Review
The adrenal glands are complex structures from which a variety of benign and malignant tumors may arise and are a common site of metastatic disease. Several radiopharmaceuticals are used for imaging the adrenals, including I-123/I-131 metaiodobenzylguanidine (MIBG), norcholesterol derivatives, In-111 pentetreotide and Ga-68 somatostatin analogs, [F-18]fluorodeoxyglucose, [F-18]fluorodopa, [F-18]fluorodopamine, C-11 meta hydroxyephedrine, and C-11/F-18/I-123 Metomidate (MTO) or its analogs. In this review we focus on the role of these reagents in metastatic lesions, cortical neoplasms, pheochromocytoma/paraganglioma, and neuroblastoma (NB).
Topics: Adrenal Gland Neoplasms; Animals; Humans; Molecular Imaging
PubMed: 22628250
DOI: 10.1002/jso.23162 -
Sisli Etfal Hastanesi Tip Bulteni 2020Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. Pheochromocytomas arise from chromaffin cells in the adrenal medulla, and PGLs arise... (Review)
Review
Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. Pheochromocytomas arise from chromaffin cells in the adrenal medulla, and PGLs arise from chromaffin cells in the ganglia of the autonomic nervous system. Paragangliomas originate from sympathetic or parasympathetic ganglia in the abdomen, thorax, and pelvis. The majority of PCC and sympathetic PGL are endocrine active tumors causing clinical symptoms by secreting excess catecholamines (norepinephrine, epinephrine, dopamine) and their metabolites. The incidence of PCC and PGL ranges between 2 and 8 per million, with a prevalence between 1:2500 and 1:6500. It peaks between the 3rd and 5th decades of life, and approximately 20% of cases are pediatric patients. The prevalence among patients with hypertension in outpatient clinic ranges between 0.1-0.6% in adults and between 2-4.5% in the pediatric age group. 10-49% of these tumors is detected incidentally in imaging techniques performed for other reasons. However, 4-8% of adrenal incidentalomas are PCCs. Of these neuroendocrine tumors, 80-85% are PCCs and 15-20% are PGLs. Up to 40% of patients with PCC and PGL has disease-specific germline mutations and the situation is hereditary. Of 60% of the remaining sporadic patients, at least 1/3 has a somatic mutation in predisposing genes. 8% of the sporadic cases, 20-75% of the hereditary cases, 5% of the bilateral, adrenal cases, and 33% of the extra-adrenal cases at first presentation are metastatic. Although PCCs and PGLs have scoring systems for histological evaluation of the primary tumor, it is not possible to diagnose whether the tumor is malignant since there is no histological system approved for the biological aggressiveness of this tumor group. Metastasis is defined as the presence of chromaffin tissue in non-chromaffin organs, such as lymph nodes, liver, lungs and bone. Although most of the PCC and PGL are benign, the metastatic disease may develop in 15-17%. Metastatic disease is reported between 2-25% in PCCs and 2.4-60% in PGLs. The TNM staging system of the American Joint Committee on Cancer (AJCC) was developed to predict the prognosis, based on the specific anatomical features of the primary tumor and the occurrence of metastasis.
PubMed: 32617052
DOI: 10.14744/SEMB.2020.18794 -
The Israel Medical Association Journal... Jan 2020Primary retroperitoneal neoplasms (PRN) arise from diverse retroperitoneal tissues. Soft tissue sarcomas (STS) comprise the majority and are well studied. Other...
BACKGROUND
Primary retroperitoneal neoplasms (PRN) arise from diverse retroperitoneal tissues. Soft tissue sarcomas (STS) comprise the majority and are well studied. Other non-sarcomatous PRN are very rare and less familiar.
OBJECTIVES
To evaluate the clinicopathologic and radiologic features of non-sarcomatous PRN, as well as the outcome of complete tumor resection (TR).
METHODS
Retrospective data were collected on consecutive patients (June 2006 to January 2015) who underwent resection of retroperitoneal lesions at our department. Final pathology of non-sarcomatous PRN was included.
RESULTS
The study population included 36 patients (26% with PRN). PRN were neurogenic (17%), fat-containing (3%), and cystic (6%). The preoperative diagnosis was correct in only 28%. All patients underwent TR via laparotomy (72%) or laparoscopy (28%), for mean operative time of 120 ± 46 minutes. En bloc organ resection was performed in 11%. Complete TR was achieved in 97%. Intra-operative spillage occurred in 8%. Intra-operative, 90-day postoperative complications, and mortality rates were 11%, 36%, and 0%, respectively. The mean length of stay was 6.5 ± 5.5 days. The median overall survival was 53 ± 4.9 months.
CONCLUSIONS
Familiarity with radiologic characteristics of PRN is important for appropriate management. Counter to STS, other PRN are mostly benign and have an indolent course. Radical surgery is not required, as complete TR confers good prognosis. Expectant management is reserved for small, asymptomatic, benign neoplasms.
Topics: Aged; Female; Ganglioneuroma; Humans; Lipoma; Male; Middle Aged; Neurilemmoma; Neurofibroma; Paraganglioma; Retroperitoneal Neoplasms; Retrospective Studies; Tomography, X-Ray Computed
PubMed: 31927807
DOI: No ID Found -
Medicine Nov 1997von Hippel-Lindau disease is a hereditary cancer syndrome characterized by the development of vascular tumors of the central nervous system and retina, clear cell renal... (Review)
Review
von Hippel-Lindau disease is a hereditary cancer syndrome characterized by the development of vascular tumors of the central nervous system and retina, clear cell renal carcinomas, pheochromocytomas, pancreatic islet cell tumors, endolymphatic sac tumors, and benign cysts affecting a variety of organs. VHL disease is caused by germline mutations of the von Hippel-Lindau tumor suppressor gene located on chromosome 3p25. Tumor development in this setting is due to inactivation or loss of the remaining wild-type allele in a susceptible cell. The highly vascular nature of VHL-associated neoplasms can be understood in light of the recent finding that the VHL gene product (pVHL) inhibits the accumulation of hypoxia-inducible mRNAs, such as the mRNA encoding vascular endothelial growth factor (VEGF), under normoxic conditions. This property of pVHL appears to be linked to its ability to bind to complexes containing elongin B, elongin C, and cullin 2 (Cul2). Elongin C and Cul2, based on their homology with Skp1 and Cdc53, respectively, are suspected of targeting certain proteins for covalent modification with ubiquitin and hence for degradation. One model, which remains to be tested, is that the binding of pVHL to elongins B/C and Cul2 affects the ubiquitination of RNA-binding proteins that regulate the stability of hypoxia-inducible mRNAs.
Topics: Adolescent; Adult; Aged; Cerebellar Neoplasms; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 3; Ear Neoplasms; Endolymphatic Sac; Genes, Tumor Suppressor; Hemangioblastoma; Humans; Kidney Diseases, Cystic; Middle Aged; Neoplasm Proteins; Pancreatic Cyst; Pheochromocytoma; Point Mutation; von Hippel-Lindau Disease
PubMed: 9413424
DOI: 10.1097/00005792-199711000-00001 -
Acta Otorhinolaryngologica Italica :... Apr 2023
Review
Topics: Humans; Recurrence; Otorhinolaryngologic Diseases
PubMed: 37698104
DOI: 10.14639/0392-100X-suppl.1-43-2023-10 -
Cancer Control : Journal of the Moffitt... Jul 2016Commonly occurring in the head and neck, paragangliomas are typically benign, highly vascular neoplasms embryologically originating from the extra-adrenal paraganglia of... (Review)
Review
BACKGROUND
Commonly occurring in the head and neck, paragangliomas are typically benign, highly vascular neoplasms embryologically originating from the extra-adrenal paraganglia of the neural crest. Frequently, these tumors are associated with the vagus or tympanic plexus nerve or the carotid artery, or jugular bulb. Their clinical presentation can vary across a wide spectrum of signs and symptoms.
METHODS
We reviewed and compared standard treatment approaches for paragangliomas of the head and neck.
RESULTS
In general, surgery is the first-line choice of therapy for carotid body tumors, whereas radiotherapy is the first-line option for jugular and vagal paragangliomas.
CONCLUSIONS
Because of the complexity of clinical scenarios and treatment options for paragangliomas, a multidisciplinary algorithmic approach should be used for treating paragangliomas. The approach should emphasize single-modality treatment that yields excellent rates of tumor control, low rates of severe, iatrogenic morbidity, and the preservation of long-term function in this patient population.
Topics: Female; Head and Neck Neoplasms; Humans; Male; Paraganglioma
PubMed: 27556663
DOI: 10.1177/107327481602300306 -
International Journal of Molecular... Jan 2022Pheochromocytomas and paragangliomas are the most heritable endocrine tumors. In addition to the inherited mutation other driver mutations have also been identified in... (Review)
Review
Pheochromocytomas and paragangliomas are the most heritable endocrine tumors. In addition to the inherited mutation other driver mutations have also been identified in tumor tissues. All these genetic alterations are clustered in distinct groups which determine the pathomechanisms. Most of these tumors are benign and their surgical removal will resolve patient management. However, 5-15% of them are malignant and therapeutical possibilities for them are limited. This review provides a brief insight about the tumorigenesis associated with pheochromocytomas/paragangliomas in order to present them as potential therapeutical targets.
Topics: Adrenal Gland Neoplasms; Carcinogenesis; Genetic Predisposition to Disease; Humans; Mosaicism; Mutation; Paraganglioma; Pheochromocytoma
PubMed: 35163370
DOI: 10.3390/ijms23031450