SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas

Mhatre, Anand N.; Li, Y; Feng, Lei; Gasperin, Anaí Caroline Hamann; Ak, Lalwani

doi:10.1111/j.1399-0004.2004.00328.x

Cited by 25 publications

(28 citation statements)

References 19 publications

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“…A 30‐year‐old man who inherited this germline mutation from the father is still unaffected by NCD tumors. This mutation has been previously reported in several studies 2,7–11 . Whether this mutation is recurrent or due to a founder effect is still controversial.…”

Section: Resultsmentioning

confidence: 79%

SDH Mutations in Patients Affected by Paraganglioma Syndromes

Mannelli¹,

Simi²,

Ercolino³

et al. 2006

Annals of the New York Academy of Sciences

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Mutations in genes encoding mitochondrial succinate dehydrogenase (SDH) are frequently involved in the development of neural crest-derived (NCD) tumors, such as pheochromocytomas (PHEOs) or paragangliomas (PGLs). In this study we report the results of sequencing analysis in leukocyte DNA of patients affected by PHEO/PGL who turned out to be SDH mutation carriers. A nonsense germline heterozygous mutation (Q109X) was found in the exon 4 of the SDHD gene in the index cases of six unrelated families affected by PHEO/PGL. Haplotype analysis showed the presence of a founder effect. Affected patients showed high clinical variability, ranging from monolateral to bilateral glomus tumors, variably associated or not with PGLs or PHEOs. A novel missense SDHD variant, T112I, was also found in one of our families. A new missense G106D mutation, involving a highly conserved amino acid, was found in two sisters affected by bilateral glomus tumors. A P81L mutation associated with abdominal and head and neck PGL was detected in three families. A G12S variant of the SDHD gene was found in one patient affected by a PHEO. The finding of this variant in 3 of 100 control subjects suggests that it is a polymorphism and not a mutation. A novel IVS2-1G>T variant was found at intron 2 of SDHD gene in one patient affected by a glomus tumor. All the tumors associated with SDHD mutations were benign. Conversely, the only mutation we found in SDHB gene (IVS3+1G>A) was associated with a malignant PHEO.

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Section: Resultsmentioning

confidence: 79%

SDH Mutations in Patients Affected by Paraganglioma Syndromes

Mannelli¹,

Simi²,

Ercolino³

et al. 2006

Annals of the New York Academy of Sciences

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“…The activated microglia, i.e. microglia derivated macrophages, secrete a variety of proinflammatory and neurotoxic factors that apart from igniting the inflammatory cascade are believed to induce and/or exacerbate neurodegeneration (Stoll et al 1998;Liu and Hong 2003;Mhatre et al 2004;Chew et al 2006). Products of the reactive microglia derivated macrophages mediate both the activation of astrocytes, recruiting of lymphocytes and granulocytes and the neuronal injury (Giulian et al 1993).…”

mentioning

confidence: 98%

Effects of dissolucytotic gold ions on recovering brain lesions

Danscher

2010

Histochem Cell Biol

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“…Phaeochromocytomas and paragangliomas arise from chromaffin cells and may occur in sporadic or familial forms (associated with MEN2A or 2B, von HippelLindau syndrome, neurofibromatosis 1, Carney's triad or mutations of succinic dehydrogenase subunits C, D and particularly B; Goldstein et al 1999, Astuti et al 2003, 2004, Mhatre et al 2004, Neumayer et al 2007. Phaeochromocytomas originate in the adrenal medulla (Shapiro & Fig 1989), while paragangliomas derived from the paraganglia (either sympathetic, localised mainly in the retroperitoneum and thorax, or parasympathetic, occurring in the area of the aortic arch, neck and skull base).…”

Section: S Grozinsky-glasberg Et Al: Somatostatin Action In Netsmentioning

confidence: 99%

Somatostatin analogues in the control of neuroendocrine tumours: efficacy and mechanisms

Grozinsky‐Glasberg¹,

Shimon²,

Korbonits³

et al. 2008

Endocrine Related Cancer

156

119

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Neuroendocrine tumours (NETs) represent a heterogeneous family of neoplasms, which may develop from different endocrine glands (such as the pituitary, the parathyroid or the neuroendocrine adrenal glands), endocrine islets (within the thyroid or pancreas) as well as from endocrine cells dispersed between exocrine cells throughout the digestive and respiratory tracts. The development of somatostatin analogues (SSA) as important diagnostic and treatment tools has revolutionised the clinical management of patients with NETs. However, although symptomatic relief and stabilisation of tumour growth for various periods of time are observed in many patients treated with SSA, tumour regression is rare. Possible mechanisms when this does occur include antagonism of local growth factor release and effects, probably including activation of tyrosine and serine-threonine phosphatases, and indirect effects via anti-angiogenesis. The development of new SSA, new drug combination therapies and chimaeric molecules should further improve the clinical management of these patients, as should a more complete understanding of their mode of action.

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SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas

Cited by 25 publications

References 19 publications

SDH Mutations in Patients Affected by Paraganglioma Syndromes

SDH Mutations in Patients Affected by Paraganglioma Syndromes

Effects of dissolucytotic gold ions on recovering brain lesions

Somatostatin analogues in the control of neuroendocrine tumours: efficacy and mechanisms

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