SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes

Choat, Heather; Derrevere, Kerri; Knight, Lisa; Brown, Whitney; Mack, Elizabeth H.

doi:10.1155/2014/502734

Cited by 12 publications

(13 citation statements)

References 20 publications

(40 reference statements)

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“…PDM NM_003000: c.541-2A > G (chr1:17,350,571, rs786201161) is located in splice-site described in ClinVar as germline mutation with pathogenic or probably pathogenic clinical significance. It was found in different phenotypic conditions including hereditary cancer-predisposing syndrome, PGLs and PCC [ 25 , 26 ], leukoencephalopathy [ 27 ], as well as kidney cancer [ 28 ].…”

Section: Resultsmentioning

confidence: 99%

Exome analysis of carotid body tumor

et al. 2018

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BackgroundCarotid body tumor (CBT) is a form of head and neck paragangliomas (HNPGLs) arising at the bifurcation of carotid arteries. Paragangliomas are commonly associated with germline and somatic mutations involving at least one of more than thirty causative genes. However, the specific functionality of a number of these genes involved in the formation of paragangliomas has not yet been fully investigated.MethodsExome library preparation was carried out using Nextera® Rapid Capture Exome Kit (Illumina, USA). Sequencing was performed on NextSeq 500 System (Illumina).ResultsExome analysis of 52 CBTs revealed potential driver mutations (PDMs) in 21 genes: ARNT, BAP1, BRAF, BRCA1, BRCA2, CDKN2A, CSDE1, FGFR3, IDH1, KIF1B, KMT2D, MEN1, RET, SDHA, SDHB, SDHC, SDHD, SETD2, TP53BP1, TP53BP2, and TP53I13. In many samples, more than one PDM was identified. There are also 41% of samples in which we did not identify any PDM; in these cases, the formation of CBT was probably caused by the cumulative effect of several not highly pathogenic mutations. Estimation of average mutation load demonstrated 6–8 mutations per megabase (Mb). Genes with the highest mutation rate were identified.ConclusionsExome analysis of 52 CBTs for the first time revealed the average mutation load for these tumors and also identified potential driver mutations as well as their frequencies and co-occurrence with the other PDMs.Electronic supplementary materialThe online version of this article (10.1186/s12920-018-0327-0) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Exome analysis of carotid body tumor

et al. 2018

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“…Measurements of plasma and/or urinary metanephrines, normetanephrines are the most reliable tests for a biochemical diagnosis with almost 100% sensitivity. An elevation of these analyses 4-fold above the reference range is associated with high probability of tumor (2,(4)(5)(6). Our case had a diagnostic elevation of urinary metanephrines and normetanephrines.…”

Section: Discussionmentioning

confidence: 57%

Pediatric Bilateral Pheochromocytoma and Experience of Laparoscopic Cortical Sparing Adrenalectomy

Altıncık¹,

Özen²,

Çelik³

et al. 2018

jpr

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“…first reported the c.541-2A>G mutation in 2007 ( 26 ), five additional reports have documented the same mutation. Four probands showed a positive family history of PCC/PGLs, and three had affected relatives while one presented with metastases ( 1 , 26 , 31 , 32 , 33 ). Noticeably, an infant carrier was diagnosed with leukoencephalopathy without PCC/PGL ( 33 ); a 19-year-old female carrier was diagnosed with hereditary oncolytic renal cancer ( 31 ) and an 11-year-old boy was diagnosed with polycythemia and abdominal PGL ( 32 ).…”

Section: Discussionmentioning

confidence: 99%

Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients

Huang

Wang

Xie

et al. 2018

Endocrine Connections

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Pheochromocytoma and paragangliomas (PCC/PGL) are neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla and sympathetic/parasympathetic ganglia, respectively. Of clinical relevance regarding diagnosis is the highly variable presentation of symptoms in PCC/PGL patients. To date, the clear-cut correlations between the genotypes and phenotypes of PCC/PGL have not been entirely established. In this study, we reviewed the medical records of PCC/PGL patients with pertinent clinical, laboratory and genetic information. Next-generation sequencing (NGS) performed on patient samples revealed specific germline mutations in the SDHB (succinate dehydrogenase complex iron-sulfur subunit B) and SDHD (succinate dehydrogenase complex subunit D) genes and these mutations were validated by Sanger sequencing. Of the 119 patients, two were identified with SDHB mutation and one with SDHD mutation. Immunohistochemical (IHC) staining was used to analyze the expression of these mutated genes. The germline mutations identified in the SDH genes were c343C>T and c.541-542A>G in the SDHB gene and c.334-337delACTG in the SDHD gene. IHC staining of tumors from the c.343C>T and c.541-2A>G carriers showed positive expression of SDHB. Tumors from the c.334-337delACTG carrier showed no expression of SDHD and a weak diffused staining pattern for SDHB. We strongly recommend genetic testing for suspected PCC/PGL patients with a positive family history, early onset of age, erratic hypertension, recurrence or multiple tumor sites and loss of SDHB and/or SDHD expression. Tailored personal management should be conducted once a patient is confirmed as an SDHB and/or SDHD mutation carrier or diagnosed with PCC/PGL.

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SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes

Cited by 12 publications

References 20 publications

Exome analysis of carotid body tumor

Exome analysis of carotid body tumor

Pediatric Bilateral Pheochromocytoma and Experience of Laparoscopic Cortical Sparing Adrenalectomy

Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients

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