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Comment
. 2017 Aug;24(8):L69-L71.
doi: 10.1530/ERC-17-0206.

A case of a metastatic SDHA mutated paraganglioma re-presenting twenty-three years after initial surgery

Ruth T Casey  1   2 , Benjamin G Challis  2 , Alison Marker  3 , Deborah Pitfield  2 , Heok K Cheow  4 , Ashley Shaw  4 , Soo-Mi Park  5 , Helen L Simpson  6 , Eamonn R Maher  5
Affiliations
Comment

A case of a metastatic SDHA mutated paraganglioma re-presenting twenty-three years after initial surgery

Ruth T Casey et al. Endocr Relat Cancer. 2017 Aug.
No abstract available

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Figures

Figure 1
Figure 1
(A) Demonstrates the metastatic deposit in the left 8th rib on CT as indicated by the arrow. (B) Shows the avid rib metastasis on 18F FDG PET CT and (C) shows no tumour avidity on I131 MIBG imaging. (D) Demonstrates loss of SDHB protein expression in the metastatic tumour deposit on SDHB immunostaining indicating SDH deficiency due to the detected germline mutation in SDHA (c.91C > T, p.Arg31).
See this image and copyright information in PMC

Comment on

  • SDHA mutated paragangliomas may be at high risk of metastasis.
    Tufton N, Ghelani R, Srirangalingam U, Kumar AV, Drake WM, Iacovazzo D, Skordilis K, Berney D, Al-Mrayat M, Khoo B, Akker SA. Tufton N, et al. Endocr Relat Cancer. 2017 Jul;24(7):L43-L49. doi: 10.1530/ERC-17-0030. Epub 2017 May 12. Endocr Relat Cancer. 2017. PMID: 28500238 No abstract available.

References

    1. Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, Wellner U, Malinoc A, Taschin E, Barbon G, et al. 2017. Clinical characterization of the pheochromocytoma and paraganglioma susceptibility genes SDHA, TMEM127, MAX, and SDHAF2 for gene-informed prevention. JAMA Oncology [in press]. (10.1001/jamaoncol.2017.0223) - DOI - PMC - PubMed
    1. Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, et al. 2006. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. Journal of Clinical Endocrinology and Metabolism 91 827–836. (10.1210/jc.2005-1862) - DOI - PubMed
    1. Boikos SA, Pappo AS, Killian JK, LaQuaglia MP, Weldon FC, Georger S, Trent JC, von Mehren M, Wright JA, Schiffman JD, et al. 2016. Molecular subtypes of KIT/PDGFRA Wild-type gastrointestinal stromal tumors: a report from the National Institutes Of Health Gastrointestinal Stromal Tumor Clinic. JAMA Oncology 2 922–928. (10.1001/jamaoncol.2016.0256) - DOI - PMC - PubMed
    1. Burnichon N, Brière JJ, Libé R, Vescovo L, Rivière J, Tissier F, Jouanno E, Jeunemaitre X, Bénit P, Tzagoloff A, et al. 2010. SDHA is a tumor suppressor gene causing paraganglioma. Human Molecular Genetics 19 3011–3020. (10.1093/hmg/ddq206) - DOI - PMC - PubMed
    1. Casey RT, Ascher DB, Rattenberry E, Izatt L, Andrews KA, Simpson HL, Challis B, Park S-M, Bulusu VR, Lalloo F, et al. 2017. SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. Molecular Genetics and Genomic Medicine 5 237–250. (10.1002/mgg3.279) - DOI - PMC - PubMed

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