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Case Report Open Access

Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report

  • Authors:
    • Ahmad Esmaeel Abdullah
    • Carole Guerin
    • Alessio Imperiale
    • Anne Barlier
    • Stéphanie Battini
    • Morgane Pertuit
    • Philippe Roche
    • Wassim Essamet
    • Bernard Vaisse
    • Karel Pacak
    • Fréderic Sebag
    • David Taïeb
  • View Affiliations / Copyright

    Affiliations: Department of Nuclear Medicine, La Timone University Hospital, European Center for Research in Medical Imaging, Aix‑Marseille University, 13385 Marseille Cedex 5, France, Department of Endocrine Surgery, Conception Hospital, Aix‑Marseille University, 13005 Marseille, France, Department of Biophysics and Nuclear Medicine, Hautepierre Hospital, University Hospitals of Strasbourg, 67200 Strasbourg, France, Laboratory of Biochemistry and Molecular Biology, Conception Hospital, Aix‑Marseille University, 13005 Marseille, France, Integrative Structural and Chemical Biology and Interaction Dynamics and Drug Design Platform, Cancer Research Centre of Marseille, Institut Paoli Calmettes, 13273 Marseille, France, Department of Neuropathology, La Timone University Hospital, Aix‑Marseille University, 13385 Marseille Cedex 5, France, Department of Hypertension, La Timone University Hospital, Aix‑Marseille University, 13385 Marseille Cedex 5, France, Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Copyright: © Abdullah et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1083-1086
    |
    Published online on: January 12, 2017
       https://doi.org/10.3892/ol.2017.5599
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Abstract

Paragangliomas of the organ of Zuckerkandl (OZ‑PGL) are rare tumors that, in >70% of cases, occur in association with succinate dehydrogenase complex iron sulfur subunit B (SDHB) or SDHD gene mutations. The aim of the current study was to determine whether a somatic genetic defect in the hypoxia‑inducible factor 2α (HIF2α) gene was present in a case of sporadic OZ‑PGL. A 32‑year‑old African female presented with uncontrolled hypertension during the first trimester of pregnancy. A diagnostic hysteroscopy was performed 3 months after delivery, precipitating a hypertensive crisis. Thereafter, the patient was diagnosed with noradrenaline‑secreting OZ‑PGL. A complete blood count identified mild normocytic anemia of an inflammatory origin. Surgical removal of the tumor resulted in normalization of plasma and urinary normetanephrine levels. Genetic testing for germline mutations (including large deletions) in the von Hippel‑Lindau tumor suppressor, SDHB, SDHC and SDHD genes was normal. However, a heterozygous missense mutation (c.1589Cys>Tyr) was detected in exon 12 of HIF2α, which results in a substitution of alanine 530 with valine (Ala530Val) in the HIF2α protein. A germline mutation was excluded based on the negative results of blood DNA testing. A three‑dimensional homology model of Ala530Val was constructed, which showed impaired HIF2α/VHL interaction and decreased HIF2α ubiquitination. 1H‑high‑resolution magic‑angle‑spinning nuclear magnetic resonance spectroscopy detected low succinate levels and high α and β glucose levels. To the best of our knowledge, the present case represents the first of its kind to associate a somatic HIF2α gain‑of‑function mutation with OZ‑PGL. It is therefore recommended that patients without germline SDHx mutations should be tested for HIF2α mutations.
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Copy and paste a formatted citation
Spandidos Publications style
Abdullah AE, Guerin C, Imperiale A, Barlier A, Battini S, Pertuit M, Roche P, Essamet W, Vaisse B, Pacak K, Pacak K, et al: Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report. Oncol Lett 13: 1083-1086, 2017.
APA
Abdullah, A.E., Guerin, C., Imperiale, A., Barlier, A., Battini, S., Pertuit, M. ... Taïeb, D. (2017). Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report. Oncology Letters, 13, 1083-1086. https://doi.org/10.3892/ol.2017.5599
MLA
Abdullah, A. E., Guerin, C., Imperiale, A., Barlier, A., Battini, S., Pertuit, M., Roche, P., Essamet, W., Vaisse, B., Pacak, K., Sebag, F., Taïeb, D."Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report". Oncology Letters 13.3 (2017): 1083-1086.
Chicago
Abdullah, A. E., Guerin, C., Imperiale, A., Barlier, A., Battini, S., Pertuit, M., Roche, P., Essamet, W., Vaisse, B., Pacak, K., Sebag, F., Taïeb, D."Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report". Oncology Letters 13, no. 3 (2017): 1083-1086. https://doi.org/10.3892/ol.2017.5599
Copy and paste a formatted citation
x
Spandidos Publications style
Abdullah AE, Guerin C, Imperiale A, Barlier A, Battini S, Pertuit M, Roche P, Essamet W, Vaisse B, Pacak K, Pacak K, et al: Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report. Oncol Lett 13: 1083-1086, 2017.
APA
Abdullah, A.E., Guerin, C., Imperiale, A., Barlier, A., Battini, S., Pertuit, M. ... Taïeb, D. (2017). Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report. Oncology Letters, 13, 1083-1086. https://doi.org/10.3892/ol.2017.5599
MLA
Abdullah, A. E., Guerin, C., Imperiale, A., Barlier, A., Battini, S., Pertuit, M., Roche, P., Essamet, W., Vaisse, B., Pacak, K., Sebag, F., Taïeb, D."Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report". Oncology Letters 13.3 (2017): 1083-1086.
Chicago
Abdullah, A. E., Guerin, C., Imperiale, A., Barlier, A., Battini, S., Pertuit, M., Roche, P., Essamet, W., Vaisse, B., Pacak, K., Sebag, F., Taïeb, D."Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report". Oncology Letters 13, no. 3 (2017): 1083-1086. https://doi.org/10.3892/ol.2017.5599
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