Hereditary paraganglioma‐pheochromocytoma syndromes associated with SDHD and RET mutations

Choi, Joseph Do Woong; Tucker, Katherine; Lee, Tack Tsiew; Chong, Guan C.

doi:10.1002/hed.23598

Cited by 4 publications

(4 citation statements)

References 19 publications

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“…Among these articles, 20 (158 patients) included 5 or more patients (Table 1) 18–39 and were considered for the proportion MA. The remaining 112 studies (179 patients), represented by case reports or case series with <5 patients, are reported in Table S1 3,40–152 …”

Section: Resultsmentioning

confidence: 99%

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Malignant carotid body tumors: What we know, what we do, and what we need to achieve. A systematic review of the literature

Piazza,

Lancini,

Tomasoni

et al. 2024

Head & Neck

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Malignant carotid body tumors (MCBT) are rare and diagnosed after detection of nodal or distant metastases. This systematic review (SR) focuses on MCBT initially approached by surgery. Preferred Reporting Items for SR and Meta‐Analysis (MA) guided the articles search from 2000 to 2023 on PubMed, Scopus, and Web of Science. Among 3548 papers, 132 (337 patients) were considered for SR; of these, 20 (158 patients) for MA. Malignancy rate was 7.3%, succinate dehydrogenase (SDH) mutation 17%, age at diagnosis between 4th and 6th decades, with a higher prevalence of females. MCBTs were mostly Shamblin III, with nodal and distant metastasis in 79.7% and 44.7%, respectively. Malignancy should be suspected if CBT >4 cm, Shamblin III, painful or otherwise symptomatic, at the extremes of age, bilateral, with multifocal disease, and SDHx mutations. Levels II–III clearance should be performed to exclude nodal metastases and adjuvant treatments considered on a case‐by‐case basis.

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Section: Resultsmentioning

confidence: 99%

“…For proportion meta‐analysis (MA), only case series with at least five consecutive cases were considered (Table 1). 18–39 All the other case series describing less than five patients (including case reports) were considered only for the SR and detailed in Table S1 3,40–152 …”

Section: Methodsmentioning

confidence: 99%

Malignant carotid body tumors: What we know, what we do, and what we need to achieve. A systematic review of the literature

Piazza,

Lancini,

Tomasoni

et al. 2024

Head & Neck

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“…Several genes involved in energy metabolism were found to be critical for CPGL pathogenesis. Germline variants in the SDHB [9], SDHC [10], SDHD [11], RET [12], and VHL [13, 14] genes were associated with carotid paragangliomas. Somatic variants in these genes, as well as ones in SDHA , SDHAF2 , IDH1 , NF1, MEN1, and KIF1 have also been described in sporadic CPGLs [10, 15, 16].…”

Section: Introductionmentioning

confidence: 99%

Novel potential causative genes in carotid paragangliomas

et al. 2019

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Background Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from the paraganglion at the bifurcation of the carotid artery and are responsible for approximately 65% of all head and neck paragangliomas. CPGLs can occur sporadically or along with different hereditary tumor syndromes. Approximately 30 genes are known to be associated with CPGLs. However, the genetic basis behind the development of these tumors is not fully elucidated, and the molecular mechanisms underlying CPGL pathogenesis remain unclear. Methods Whole exome and transcriptome high-throughput sequencing of CPGLs was performed on an Illumina platform. Exome libraries were prepared using a Nextera Rapid Capture Exome Kit (Illumina) and were sequenced under 75 bp paired-end model. For cDNA library preparation, a TruSeq Stranded Total RNA Library Prep Kit with Ribo-Zero Gold (Illumina) was used; transcriptome sequencing was carried out with 100 bp paired-end read length. Obtained data were analyzed using xseq which estimates the influence of mutations on gene expression profiles allowing to identify potential causative genes. Results We identified a total of 16 candidate genes ( MYH15, CSP1, MYH3, PTGES3L, CSGALNACT2, NMD3, IFI44, GMCL1, LSP1, PPFIBP2, RBL2, MAGED1, CNIH3, STRA6, SLC6A13, and ATM ) whose variants potentially influence their expression ( cis -effect). The strongest cis -effect of loss-of-function variants was found in MYH15, CSP1, and MYH3 , and several likely pathogenic variants in these genes associated with CPGLs were predicted. Conclusions Using the xseq probabilistic model, three novel potential causative genes, namely MYH15, CSP1 , and MYH3 , were identified in carotid paragangliomas.

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“…A RET mutation was previously detected in a patient with multiple paragangliomas (Ding et al, 2019). Moreover, the likely pathogenic germline variant NM_020975: c.A2372T, p.Y791F (chr10: 43613908, rs77724903) in RET was identified in two out of four members of a family with multiple and malignant paragangliomas (Choi Jdo et al, 2014). All four members carried pathogenic SDHD mutations.…”

Section: Discussionmentioning

confidence: 92%

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Hereditary paraganglioma‐pheochromocytoma syndromes associated with SDHD and RET mutations

Cited by 4 publications

References 19 publications

Malignant carotid body tumors: What we know, what we do, and what we need to achieve. A systematic review of the literature

Malignant carotid body tumors: What we know, what we do, and what we need to achieve. A systematic review of the literature

Novel potential causative genes in carotid paragangliomas

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