High prevalence of SDHB mutations in head and neck paraganglioma in Belgium

Persu, Alexandre; Hamoir, Marc; Grégoire, Vincent; Garin, Pierre; Duvivier, Etienne; Reychler, Hervé; Chantrain, Gilbert; Mortier, Geert; Mourad, Michel; Maiter, Dominique; Vikkula, Miikka

doi:10.1097/hjh.0b013e3282ffdc54

Cited by 15 publications

(16 citation statements)

References 34 publications

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“…For the purpose of this study, 95 papers were reviewed. All papers were dealing with SDH germline mutations (57 in SDHD , 54 in SDHB and 13 in SDHC ) in patients affected by tumours related with the ‘PGL/PHEO syndromes’ [23–25, 31, 33, 35, 44–134]. These included all published reports cited in the Leiden Open Variation Database (LOVD) SDH gene databases at July 2008 (SDHB 080626: June 26, 2008; SDHC 080520: May 20, 2008; SDHD 080703: July 03, 2008) [135] and 13 recent publications.…”

Section: Sdh Germline Mutations Associated With Inherited Predispositmentioning

confidence: 99%

SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma–paraganglioma syndromes

Pasini

Stratakis

2009

Journal of Internal Medicine

248

235

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A genetic predisposition has been recognized for paragangliomas and adrenal or extra-adrenal pheochromocytomas was recognized years ago. Well known syndromes associated with an increased risk of pheochromocytoma include Von Hippel Lindau disease, multiple endocrine neoplasia type 2, and neurofibromatosis type 1 and are discussed elsewhere. The study of inherited predisposition to head and neck paragangliomas led to the discovery of three genes encoding subunits of the succinate dehydrogenase (SDH) enzyme (SDHB, SDHC and SDHD) thus opening an unexpected connection between mitochondrial tumour suppressor genes and neural crest-derived cancers. In this review we summarize the most recent knowledge about the role of SDH in tumorigenesis, including spectrum and prevalence of mutations, related phenotypes, and the biological hypotheses attempting to explain tumorigenesis, as well as current questions and ongoing research.

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Section: Sdh Germline Mutations Associated With Inherited Predispositmentioning

confidence: 99%

SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma–paraganglioma syndromes

Pasini

Stratakis

2009

Journal of Internal Medicine

248

235

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“…[1,26,27] Head and neck paragangliomas have higher risk for SDHD mutation carriers (60%-79%), but SDHB mutated head and neck paragangliomas may also have potential for malignancy. [11] Although, previously SDHB negative tumors in this localization were considered as completely benign, [10] they may metastasize, be multiple (15%) or even have associations with pheochromocytomas (2%) and other non-paraganglionic tumors (3%) in some cases. [11,12] Of these reasons, SDHB mutated head and neck tumors do not have to be single out entirely from SDHB mutated tumors in other localizations, considering further surveillance.…”

Section: Discussionmentioning

confidence: 93%

“…Formerly, it was shown, that patients harboring SDHB mutations had unilateral lateonset head and neck paragangliomas without evidence of recurrence or malignancy. [10] In the latest literature SDHB negative head and neck paragangliomas not only metastasized, occurred for younger patients but also had variable manifestation of the SDHB-linked tumor syndrome, including catecholamine producing pheochromocytomas. [11,12] Of these reasons, SDHB mutated head and neck paragangliomas may require a long-term follow-up for patients and testing for their family members as well as SDHB mutated tumors in other localizations.…”

Section: Introductionmentioning

confidence: 99%

SDHB mutated paraganglioma imitating thyroid tumor: A case report and review of literature

Maskoliūnaitė

Makūnaitė

Garnelytė

et al. 2018

CRCP

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Paragangliomas of the head and neck are uncommon tumors arising from parasympathetic ganglia. Paragangliomas are mostly asymptomatic and may manifest as palpable mass of neck. The morphologic features are non-specific and comparable to the other neuroendocrine tumors. Most of hereditary cases are associated with alterations in genes of succinate dehydrogenase (SDH). SDHA and SDHB immunohistochemistry is considered as reliable screening method to detect tumors with genetical alterations. Of note, SDHB mutated paragangliomas have the highest risk of local recurrence, distant metastasis and the development of other tumor phenotypes, which are associated with mutation. Therefore, active surveillance of patients and early surgical treatment are essential. In contrast, SDHB mutated head and neck paragangliomas was considered as completely benign tumors, although, the latest literature describes more controversial cases, which may increase awareness. Here, we present a rare case of 21 years old female with asymptomatic neck paraganglioma, which was unexpectedly diagnosed after pathological and immunohistochemical testing of removed thyroid gland and showed unusual immunohistochemical variation for SDH mutation.

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“…4 A quarter of patients with head and neck paragangliomas harbour predisposing genetic mutations. 5 SDHD mutations were found in all patients with familial head and neck paraganglioma in a paper from Belgium. 5 In sporadic cases, the prevalence of SDHB mutations was twice that of SDHD mutations.…”

mentioning

confidence: 99%

“…5 SDHD mutations were found in all patients with familial head and neck paraganglioma in a paper from Belgium. 5 In sporadic cases, the prevalence of SDHB mutations was twice that of SDHD mutations. Patients harbouring SDHB mutations had unilateral late-onset head and neck tumours, without evidence of recurrence or malignancy.…”

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confidence: 99%

The two-hit hypothesis and paraganglioma of the head and neck

Hussain¹,

Fisher²,

Youngs³

et al. 2017

J. Laryngol. Otol.

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The two-hit hypothesis and paraganglioma of the head and neckThe article on management of head and neck paraganglioma 1 in this month's Journal of Laryngology & Otology is being published on the first anniversary (10 July 2017) of the passing away of Alfred G Knudson, the architect of the two-hit theory, 2 fundamental to our understanding of tumour genetic mutation. This theory explained, for the first time, among other matters, why some develop a tumour early in life and others late. As tumours are the result of accumulated mutations to a cell's DNA, 3 it follows that one born with a single mutation needs a second 'hit' for a tumour to occur, and another born without mutation requires two hits, reflecting a play betwixt germ line and somatic mutation. We honour Alfred G Knudson (born 1923), who worked at the Fox Chase Cancer Centre Philadelphia, for his work that led to the concept of tumour suppressor genes.As our understanding of head and neck paraganglioma increases, we realise that surgery, which has long been the mainstay of treatment, is no longer so. This is not to say that surgery is out, but management is tempered by advances in genetics, improvements in diagnostic imaging and the longitudinal behaviour of these tumours. 4 A quarter of patients with head and neck paragangliomas harbour predisposing genetic mutations. 5 SDHD mutations were found in all patients with familial head and neck paraganglioma in a paper from Belgium. 5 In sporadic cases, the prevalence of SDHB mutations was twice that of SDHD mutations. Patients harbouring SDHB mutations had unilateral late-onset head and neck tumours, without evidence of recurrence or malignancy.The work by Harrison and Corbridge, 1 on active surveillance of head and neck paragangliomas over a fiveyear period, demonstrates the favourable outcome of avoiding surgery. Although the numbers are small, the paper is a useful addition to existing literature and relevant to our circumstances.Chan and colleague's paper, 6 on the association of pre-operative oxygen saturation as a predictor of future need for paediatric intensive care in children who undergo supraglottoplasty for laryngomalacia, is a first such study from the UK. This has implications for a number of other procedures undertaken in children with potential airway issues.Lou and Lou 7 reviewed the application of moist agents to the edge of traumatic tympanic membrane perforations; they show that it shortens closure times and improves closure rates. This is not in keeping with traditional teaching to leave traumatic perforations of the eardrum alone. Jellinge et al. 8 had previously shown a 97 per cent closure rate through a policy of simple watchful waiting. MUSHEER HUSSAIN EDWARD FISHER ROBIN YOUNGS JONATHAN FISHMANSenior Editors

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High prevalence of SDHB mutations in head and neck paraganglioma in Belgium

Cited by 15 publications

References 34 publications

SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma–paraganglioma syndromes

SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma–paraganglioma syndromes

SDHB mutated paraganglioma imitating thyroid tumor: A case report and review of literature

The two-hit hypothesis and paraganglioma of the head and neck

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