scholarly journals Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Alejandro Terrones-Lozano ◽  
Alan Hernández-Hernández ◽  
Edgar Nathal Vera ◽  
Gerardo Yoshiaki Guinto-Nishimura ◽  
Jorge Luis Balderrama-Bañares ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Head And Neck ◽  
Germline Mutation ◽  
Germline Mutations ◽  
Current Approach ◽  
Genetic Syndromes ◽  
Pet Ct ◽  
History Of ◽  
Head And Neck Paragangliomas

Introduction. 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. Clinical Case. 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. Discussion and Conclusion. 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 SDHB 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.

scholarly journals The phenotype of SDHB germline mutation carriers: a nationwide study

2017 ◽  
Vol 177 (2) ◽  
pp. 115-125 ◽  
Author(s):  
Nicolasine D Niemeijer ◽  
Johannes A Rijken ◽  
Karin Eijkelenkamp ◽  
Anouk N A van der Horst-Schrivers ◽  
Michiel N Kerstens ◽  
...  
Keyword(s):  
Head And Neck ◽  
Metastatic Disease ◽  
Germline Mutation ◽  
Descriptive Study ◽  
Germline Mutations ◽  
Nationwide Study ◽  
B Subunit ◽  
Mutation Carriers ◽  
Head And Neck Paragangliomas

Objective Succinate dehydrogenase B subunit (SDHB) gene germline mutations predispose to pheochromocytomas, sympathetic paragangliomas, head and neck paragangliomas and non-paraganglionic tumors (e.g. renal cell carcinoma, gastrointestinal stromal tumor and pituitary neoplasia). The aim of this study was to determine phenotypical characteristics of a large Dutch cohort of SDHB germline mutation carriers and assess differences in clinical phenotypes related to specific SDHB mutations. Design Retrospective descriptive study. Methods Retrospective descriptive study in seven academic centers. Results We included 194 SDHB mutation carriers consisting 65 (33.5%) index patients and 129 (66.5%) relatives. Mean age was 44.8 ± 16.0 years. Median duration of follow-up was 2.6 years (range: 0–36). Sixty persons (30.9%) carried the exon 3 deletion and 46 (23.7%) the c.423 + 1G > A mutation. Fifty-four mutation carriers (27.8%) had one or multiple head and neck paragangliomas, 4 (2.1%) had a pheochromocytoma and 26 (13.4%) had one or more sympathetic paragangliomas. Fifteen patients (7.7%) developed metastatic paraganglioma and 17 (8.8%) developed non-paraganglionic tumors. At study close, there were 111 (57.2%) unaffected mutation carriers. Statistical analyses showed no significant differences in the number and location of head and neck paragangliomas, sympathetic paragangliomas or pheochromocytomas, nor in the occurrence of metastatic disease or other tumors between carriers of the two founder SDHB mutations (exon 3 deletion vs c.423 + 1G > A). Conclusions In this nationwide study of disease-affected and unaffected SDHB mutation carriers, we observed a lower rate of metastatic disease and a relatively high number of head and neck paragangliomas compared with previously reported referral-based cohorts.

scholarly journals Tinnitus With Unexpected Spanish Roots: Head and Neck Paragangliomas Caused by SDHAF2 Mutation

2020 ◽  
Vol 4 (3) ◽  
Author(s):  
Laura Maria Roose ◽  
Niels J Rupp ◽  
Christof Röösli ◽  
Nadejda Valcheva ◽  
Achim Weber ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Head And Neck ◽  
Carotid Body ◽  
Loss Of Function ◽  
Negative Family History ◽  
Paraganglioma Syndrome ◽  
Plasma Free Metanephrines ◽  
The Right ◽  
Head And Neck Paragangliomas

Abstract It is estimated that up to 40% of all head and neck paragangliomas (HNPGL) have a hereditary background with the most common mutations being found in the succinate dehydrogenase (SDH) genes. SDHAF2 mutation leads to the rare paraganglioma syndrome 2. The authors present the case of a 15-year-old male patient with 2, non-secretory HNPGLs, presenting with left-sided, pulsatile tinnitus, and hearing loss. Imaging led to the suspicion of a jugulotympanic paraganglioma on the left, as well as a carotid body tumor on the right. After resection of the jugulotympanic tumor, histology confirmed the presence of a paraganglioma; immunohistochemistry furthermore suggested a loss of SDHB expression. Genetic testing revealed a rare germline, loss-of-function mutation in the SDHAF2 gene, previously described to cause hereditary paraganglioma syndrome 2. Twenty months after the first operation, the patient underwent a resection of the right carotid body paraganglioma. Plasma-free metanephrines/catecholamines always remained within the reference range; the patient is under regular follow-up, and his relatives will be screened. Our findings emphasize the relevance of genetic testing in patients with HNPGL, also with negative family history, especially when the patients present at a young age and with multiple lesions.

Additional value of integrated PET/CT over PET alone in the initial staging and follow up of head and neck malignancy

2010 ◽  
Vol 24 (2) ◽  
pp. 77-82 ◽  
Author(s):  
Tomohiro Ishikita ◽  
Noboru Oriuchi ◽  
Tetsuya Higuchi ◽  
Go Miyashita ◽  
Yukiko Arisaka ◽  
...  
Keyword(s):  
Head And Neck ◽  
Head And Neck Malignancy ◽  
Neck Malignancy ◽  
Pet Ct ◽  
Additional Value ◽  
Initial Staging

Radiology of the head and neck

2021 ◽  
pp. 973-976
Author(s):  
Ivan Zammit-Maempel
Keyword(s):  
Head And Neck ◽  
Imaging Techniques ◽  
Cone Beam Ct ◽  
Neck Mass ◽  
Positron Emission ◽  
Pet Ct ◽  
Magnetic Resonance Imaging Mri ◽  
Video Fluoroscopy

Various imaging techniques are used in the staging and follow-up of head and neck cancer and evaluating patients presenting with a neck mass. The workhorses in imaging the neck are ultrasonography, computed tomography (CT), and magnetic resonance imaging (MRI) with positron emission tomography CT (PET-CT) increasingly being requested. Plain radiographs, contrast studies, video fluoroscopy, angiography, and cone beam CT have limited but important roles. This chapter discusses the role of some of these modalities.

Germline mutations in Brazilian pancreatic carcinoma patients.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e16749-e16749
Author(s):  
Livia Munhoz Rodrigues ◽  
Simone Maistro ◽  
Maria Lucia Hirata Katayama ◽  
Luiz A.Senna Leite ◽  
Joao Glasberg ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Pancreatic Carcinoma ◽  
Germline Mutations ◽  
Family History Of Cancer ◽  
First Degree Relatives ◽  
Pathogenic Variants ◽  
History Of ◽  
History Of Cancer

e16749 Background: Pancreatic cancer has the prospect of becoming the second leading cause of cancer death by 2030. The NCCN Guidelines recommend genetic testing for all patients with pancreatic cancer, however, the spectrum of germline mutations has not been extensively evaluated because recent studies with genetic testing have explored only a limited number of genes and have focused predominantly on Caucasian populations. Therefore, our objective is to evaluate the frequency and spectrum of germline mutations in unselected patients with pancreatic cancer in a multiethnic population. Methods: Patients from Instituto do Câncer do Estado de São Paulo (Brazil) with histopathological diagnosis of non-endocrine pancreatic carcinoma were included, regardless of the family history of cancer. These patients answered a life habits and family history of cancer questionnaire and supplied blood for the Next Generation Sequencing (MiSeq platform) with the TruSight Hereditary Cancer panel (Illumina), which includes 115 cancer predisposing genes. Variant analysis was performed with the VarStation, a Brazilian tool that offers post-sequencing computational support and aid for clinical interpretation. Results: To the present moment, 77 patients were evaluated. The mean age of the patients was 62 years (27-83), among whom, 13% with young age (≤50 years) and 47 women (61%). Thirty-eight patients (49%) reported cases of cancer in first-degree relatives. Regarding risk factors, 41 patients (53%) reported smoking, 19 (25%) alcohol ingestion and 20 (26%) had obesity. Seven out of 77 patients presented pathogenic variants in ATM (n = 2) , CHEK2, FANCM (n = 2) or PALB2 (n = 2) genes. Two of these patients ( CHEK2 and FANCM) had early onset pancreatic cancer (≤45 years), both denied smoking habit and family history of cancer in 1st degree relatives. Two patients, who were ATM mutation carriers, reported 1st or 2nd degree relatives with cancer and are alive after 4 and 8 years of diagnosis. Conclusions: In this unselected group of pancreatic cancer patients, 15% were young, almost half reported first-degree relatives with cancer and 9% were carriers of pathogenic variants in genes related with the homologous recombination DNA repair.

scholarly journals 68Ga-DOTATATE PET/CT in the Localization of Head and Neck Paragangliomas Compared with Other Functional Imaging Modalities and CT/MRI

2015 ◽  
Vol 57 (2) ◽  
pp. 186-191 ◽  
Author(s):  
I. Janssen ◽  
C. C. Chen ◽  
D. Taieb ◽  
N. J. Patronas ◽  
C. M. Millo ◽  
...  
Keyword(s):  
Head And Neck ◽  
Functional Imaging ◽  
Imaging Modalities ◽  
Pet Ct ◽  
Head And Neck Paragangliomas

scholarly journals Management of radiation-related supraglottic stenosis with serial in-office steroid injections

2018 ◽  
Vol 5 (1) ◽  
pp. 184
Author(s):  
Christine M. Kim ◽  
Pratik B. Patel ◽  
Aaron J. Feinstein ◽  
Dinesh K. Chhetri
Keyword(s):  
Head And Neck ◽  
Paradigm Shift ◽  
Surgical Intervention ◽  
Outpatient Management ◽  
Clinical Protocol ◽  
Steroid Injections ◽  
Clinical Challenge ◽  
History Of ◽  
Head And Neck Radiation

<p class="abstract">Management of supraglottic stenosis in patients with history of head and neck radiation presents a clinical challenge for otolaryngologists. The cornerstone of treatment has historically been surgical intervention, both endoscopic and open. However, recently described techniques related to outpatient management of subglottic and tracheal stenosis with routine in-office steroid injections may provide a translatable model for supraglottic stenosis management.<strong> </strong>We describe a clinical protocol for in-office steroid injections to the laryngopharynx for patients with supraglottic stenosis secondary to radiation fibrosis.<strong> </strong>Two patient cases are reported, including endoscopic examinations over a follow-up period of 12 to 16 months. Both patients experienced significant improvement in their supraglottic airways. In-office steroid injections may be beneficial to prevent or slow stenosis recurrence in patients treated with radiation for head and neck cancer. With continued refinement of this technique, a paradigm shift may occur in the management of supraglottic stenosis.</p>

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