Sporadic or familial head neck paragangliomas enrolled in a single center: Clinical presentation and genotype/phenotype correlations.

06:00 EST 1st February 2012 | BioPortfolio

Summary of "Sporadic or familial head neck paragangliomas enrolled in a single center: Clinical presentation and genotype/phenotype correlations."

The purpose of this study was to investigate clinical features and prevalence of germline mutations of patients with head/neck paragangliomas.
Genetic analysis on known susceptibility genes for paragangliomas (VHL, RET, SDHB, SDHC, SDHD, and SDHAF2) was performed in 17 consecutive patients with head/neck paraganglioma (age range, 14-82 years) and 17 relatives.
Head/neck paragangliomas were usually symptomatic with "mass effect" (88.2%), without family history (82.3%), often multifocal (41.2%), never functioning, and malignant. Germline mutations were detected in 7 of 17 patients (41%; 6 SDHD and 1 SDHB). Patients with mutations were younger, with head/neck paragangliomas usually multifocal and with higher biologic aggressiveness than wild-type subjects. To date, 4 families have been studied and the prevalence of carriers was elevated (58.8%). These mutated relatives (age range, 17-71 years) were disease-free, except 4 patients in whom multiple head/neck paragangliomas were detected.
Adequate morpho-functional screening and follow-up and, if possible, genetic testing is advisable in patients with head/neck paraganglioma. © 2012 Wiley Periodicals, Inc. Head Neck, 2012.


Department of Internal Medicine, University of Pisa, Ospedale Santa Chiara, Pisa, Italy.

Journal Details

This article was published in the following journal.

Name: Head & neck
ISSN: 1097-0347


DeepDyve research library

PubMed Articles [14761 Associated PubMed Articles listed on BioPortfolio]

Paragangliomas of the Head and Neck.

Paragangliomas of the head and neck are rare vascular skull-base tumors derived from the paraganglionic system with an estimated incidence of 1:30,000 accounting for 3% of all paragangliomas. The most...

Surgical management of carotid body tumors: a 15-year single institution experience employing an interdisciplinary approach.

Cervical paragangliomas are rare neoplasms that arise from extraadrenal paraganglia in close association with the cranial nerves and extracranial arterial system of the head and neck, and therefore su...

Quality assessment in head and neck oncologic surgery in a Brazilian cancer center compared with MD Anderson Cancer Center benchmarks.

Quality assessment is a major tool for evaluation of health care delivery. In head and neck surgery, the University of Texas MD Anderson Cancer Center (MD Anderson) has defined quality standards by pu...

Clinicopathologic characteristics of familial versus sporadic papillary thyroid carcinoma.

It is unclear whether familial non-medullary thyroid carcinoma (FNMTC) is more aggressive than sporadic carcinoma, and its prevalence is still under debate. In this study, we investigated the clinicop...

Head and neck cancer in South Asia: Macroeconomic consequences and the role of the head and neck surgeon.

Head and neck cancer constitutes a substantial portion of the burden of disease in South Asia, and there is an undersupply of surgical capacity in this region. The purpose of this study was to estimat...

Clinical Trials [5948 Associated Clinical Trials listed on BioPortfolio]

A Study of ARQ 501 in Patients With Squamous Cell Carcinoma of the Head and Neck

This is a Phase 2, multi-center, open label study of ARQ 501 in patients with locally advanced, recurrent or metastatic squamous cell cancer of the head and neck (SCCHN).

Pilot Study of AuroLase(tm) Therapy in Refractory and/or Recurrent Tumors of the Head and Neck

This is an open-label, multicenter, single-dose pilot study of AuroLase(TM) Therapy in the treatment of patients with refractory and/or recurrent tumors of the head and neck. Three (3) tr...

PRISM (Panitumumab Regimen In Second-line Monotherapy of Head and Neck Cancer)

This is an open-label, single-arm, phase 2, multi-center, clinical trial of panitumumab monotherapy for second-line treatment of metastatic or recurrent squamous cell carcinoma of head and...

Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma

This is an open-label phase II study of an investigational drug, sunitinib malate in patients with advanced malignant paraganglioma or phaeochromocytoma cancer. Paragangliomas (PGs) are tu...

Head and Neck Cancer Registry (LORHAN)

The primary objective of this study is to describe, in detail, patterns of care for head and neck carcinoma patient

Medical and Biotech [MESH] Definitions

Dissection in the neck to remove all disease tissues including cervical LYMPH NODES and to leave an adequate margin of normal tissue. This type of surgery is usually used in tumors or cervical metastases in the head and neck. The prototype of neck dissection is the radical neck dissection described by Crile in 1906.

The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XY karyotype (GONADAL DYSGENESIS, 46,XY).

Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)

A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)

Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. Sporadic and hereditary forms have been described. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial forms usually begin in childhood and lack inflammatory changes. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. (Adams et al., Principles of Neurology, 6th ed, pp1409-10)

Quick Search

DeepDyve research library

Searches Linking to this Article