scholarly journals Genetic Variants in Patients with Multiple Head and Neck Paragangliomas: Dilemma in Management

Biomedicines ◽  
2021 ◽  
Vol 9 (6) ◽  
pp. 626
Author(s):  
Anasuya Guha ◽  
Ales Vicha ◽  
Tomas Zelinka ◽  
Zdenek Musil ◽  
Martin Chovanec
Keyword(s):  
Head And Neck ◽  
Malignant Tumors ◽  
Positive Family History ◽  
Germline Mutations ◽  
Tumor Surveillance ◽  
Preventative Measures ◽  
Genetic Patterns ◽  
Therapeutic Measures ◽  
Benign Nature ◽  
Head And Neck Paragangliomas

Multiple head and neck paragangliomas (HNPGLs) are neuroendocrine tumors of a mostly benign nature that can be associated with a syndrome, precipitated by the presence of a germline mutation. Familial forms of the disease are usually seen with mutations of SDHx genes, especially the SDHD gene. SDHB mutations are predisposed to malignant tumors. We found 6 patients with multiple tumors amongst 30 patients with HNPGLs during the period of 2016 to 2021. We discuss the phenotypic and genetic patterns in our patients with multiple HNPGLs and explore the management possibilities related to the disease. Fifty percent of our patients had incidental findings of HNPGLs. Twenty-one biochemically silent tumors were found. Four patients had germline mutations, and only one had a positive family history. Three out of five underwent surgery without permanent complications. Preventative measures (genetic counselling and tumor surveillance) represent the gold standard in effectively controlling the disease in index patients and their relatives. In terms of treatment, apart from surgical and radiotherapeutic interventions, new therapeutic measures such as gene targeted therapy have contributed very sparsely. With the lack of standardized protocols, management of patients with multiple HNPGLs still remains very challenging, especially in those with sporadic or malignant forms of the disease.

scholarly journals Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations

BJS Open ◽  
2018 ◽  
Vol 2 (2) ◽  
pp. 62-69 ◽  
Author(s):  
J. A. Rijken ◽  
N. D. Niemeijer ◽  
C. R. Leemans ◽  
K. Eijkelenkamp ◽  
A. N. A. van der Horst-Schrivers ◽  
...  
Keyword(s):  
Head And Neck ◽  
Germline Mutations ◽  
Nationwide Study ◽  
Head And Neck Paragangliomas

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 Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas

2005 ◽  
Vol 152 (1) ◽  
pp. 87-94 ◽  
Author(s):  
W H van Houtum ◽  
E P M Corssmit ◽  
P B Douwes Dekker ◽  
J C Jansen ◽  
A G L van der Mey ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Head And Neck ◽  
Histopathological Examination ◽  
Positive Family History ◽  
Mibg Scintigraphy ◽  
Resonance Imaging ◽  
Catecholamine Excess ◽  
Head And Neck Paragangliomas

Objective: The aim of this study was to identify the prevalence of catecholamine excess and phaeochromocytomas in a well-defined population of people with hereditary head and neck paragangliomas. Methods: We studied in a prospective follow-up protocol all consecutive patients referred to the Department of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands with documented head and neck paragangliomas and either a positive family history for paragangliomas or a proven SDHD gene mutation. Initial analysis included medical history, physical examination and the measurement of excretion of catecholamines in two 24-h urine collections. In the case of documented catecholamine excess iodinated meta-iodobenzylguanidine (123I-MIBG) scintigraphy and magnetic resonance imaging were done. Results: Between 1988 and 2003, 40 consecutive patients (20 male and 20 female) with documented head and neck paragangliomas were screened. Biochemical screening revealed urinary catechol-amine excess in 15 patients (37.5%). In nine of these 15 patients a lesion was found by 123I-MIBG scintigraphy. Exact localization by magnetic resonance imaging revealed phaeochromocytomas in seven of the 15 patients. One of the nine patients had an extra-adrenal paraganglioma. Histopathological examination in a subset of tumors displayed loss of heterozygosity of the wild-type SDHD allele in all cases. Conclusions: The prevalence of catecholamine excess (37.5%) and phaeochromocytomas (20.0%) is high in patients with familial head and neck paragangliomas. Therefore, patients with hereditary head and neck paragangliomas require lifelong follow up by biochemical testing for catecholamine excess.

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.

Head and Neck Paragangliomas Radiosurgery: Long-Term, Single-Institution Experience

2016 ◽  
Vol 77 (S 02) ◽  
Author(s):  
Marcello Marchetti ◽  
Valentina Pinzi ◽  
Francesco Prada ◽  
Elena De Martin ◽  
Valeria Cuccarini ◽  
...  
Keyword(s):  
Head And Neck ◽  
Single Institution ◽  
Head And Neck Paragangliomas

SDHB, SDHC, and SDHD Mutations in Head and Neck Paragangliomas

Skull Base ◽  
2007 ◽  
Vol 17 (S 1) ◽  
Author(s):  
Franco Trabalzini ◽  
Francesca Schiavi ◽  
Giuseppe Opocher ◽  
Pietro Amistà
Keyword(s):  
Head And Neck ◽  
Head And Neck Paragangliomas

Malignant Head and Neck Paragangliomas in Patients with Paraganglioma Syndromes

Skull Base ◽  
2009 ◽  
Vol 19 (01) ◽  
Author(s):  
Carsten Boedeker ◽  
Zoran Erlic ◽  
Roland Laszig ◽  
Wolfgang Maier ◽  
Jörg Schipper ◽  
...  
Keyword(s):  
Head And Neck ◽  
Head And Neck Paragangliomas

Head and neck paragangliomas: genetic mutation and location of the tumors

2018 ◽  
Author(s):  
Jose-Maria Recio-Cordova ◽  
Cecilia Higueruela ◽  
Rocio Caceres ◽  
Maria Garcia-Duque ◽  
Rogelio Gonzalez-Sarmiento ◽  
...  
Keyword(s):  
Head And Neck ◽  
Genetic Mutation ◽  
Head And Neck Paragangliomas

Systemic Therapy for Head and Neck Skin Cancers

FACE ◽  
2021 ◽  
pp. 273250162110138
Author(s):  
Rebecca Knackstedt ◽  
Peter Taub ◽  
Gary Rogers ◽  
Brian Gastman
Keyword(s):  
Radiation Therapy ◽  
High Risk ◽  
Head And Neck ◽  
Systemic Therapy ◽  
Malignant Tumors ◽  
Curative Therapy ◽  
Recurrent Tumors ◽  
Skin Cancers ◽  
Systemic Therapies ◽  
Melanoma Skin

The mainstay of curative therapy for head and neck skin cancers relies upon surgery and/or radiation therapy. However, for some aggressive, non-resectable or recurrent tumors, systemic therapy is necessary. Recent emerging classes of drugs have shown to improve survival for high-risk, recurrent, and unresectable variants of these tumors. The goal of this paper is to review options for systemic therapies for head and neck skin cancers including melanoma, non-melanoma skin cancers and other rare and non-malignant tumors.

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