تقرير
Case Report: Giant Paraganglioma of the Skull Base With Two Somatic Mutations in SDHB and PTEN Genes.
العنوان: | Case Report: Giant Paraganglioma of the Skull Base With Two Somatic Mutations in SDHB and PTEN Genes. |
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المؤلفون: | Main AM; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Benndorf G; Department of Radiology, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Radiology, Baylor College of Medicine, Houston, TX, United States., Feldt-Rasmussen U; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Fugleholm K; Department of Neurosurgery, Copenhagen University Hospital, Copenhagen, Denmark., Kistorp T; Department of Anaesthesiology, Copenhagen University, Copenhagen, Denmark., Loya AC; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Pathology, Copenhagen University Hospital, Copenhagen, Denmark., Poulsgaard L; Department of Neurosurgery, Copenhagen University Hospital, Copenhagen, Denmark., Rasmussen ÅK; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen, Denmark., Sølling C; Department of Neuroanaesthesiology, Copenhagen University Hospital, Copenhagen, Denmark., Klose MC; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. |
المصدر: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Apr 13; Vol. 13, pp. 857504. Date of Electronic Publication: 2022 Apr 13 (Print Publication: 2022). |
نوع المنشور: | Case Reports |
اللغة: | English |
بيانات الدورية: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: [Lausanne : Frontiers Research Foundation] |
مواضيع طبية MeSH: | Labetalol* , Paraganglioma*/genetics , Paraganglioma*/surgery, Adult ; Female ; Humans ; Mutation ; Normetanephrine ; PTEN Phosphohydrolase ; Skull Base ; Succinate Dehydrogenase |
مستخلص: | Head and neck paragangliomas (HNPGLs) are neuroendocrine tumors. They arise from the parasympathetic ganglia and can be either sporadic or due to hereditary syndromes (up to 40%). Most HNPGLs do not produce significant amounts of catecholamines. We report a case of a giant paraganglioma of the skull base with an unusually severe presentation secondary to excessive release of norepinephrine, with a good outcome considering the severity of disease. A 39-year-old Caucasian woman with no prior medical history was found unconscious and emaciated in her home. In the intensive care unit (ICU) the patient was treated for multi-organ failure with multiple complications and difficulties in stabilizing her blood pressure with values up to 246/146 mmHg. She was hospitalized in the ICU for 72 days and on the 31 st day clinical assessment revealed jugular foramen syndrome and paralysis of the right n. facialis. A brain MRI confirmed a right-sided tumor of the skull base of 93.553 cm 3 . Blood tests showed high amounts of normetanephrine (35.1-45.4 nmol/L, ref <1.09 nmol/L) and a tumor biopsy confirmed the diagnosis of a paraganglioma. Phenoxybenzamine and Labetalol were used in high doses ((Dibenyline ® , 90 mg x 3 daily) and labetalol (Trandate ® , 200 + 300 + 300 mg daily) to stabilize blood pressure. The patient underwent two tumor embolization procedures before total tumor resection on day 243. Normetanephrine and blood pressure normalized after surgery (0.77 nmol/L, ref: < 1.09 nmol/L). The damage to the cranial nerve was permanent. Our patient was comprehensively examined for germline predisposition to PPGLs, however we did not identify any causal aberrations. A somatic deletion and loss of heterozygosity (LOH) of the short arm (p) of chromosome 1 (including SDHB ) and p of chromosome 11 was found. Analysis showed an SDHB (c.565T>G, p.C189G) and PTEN (c.834C>G, p.F278L) missense mutation in tumor DNA. The patient made a remarkable recovery except for neurological deficits after intensive multidisciplinary treatment and rehabilitation. This case demonstrates the necessity for an early tertiary center approach with a multidisciplinary expert team and highlights the efficacy of the correct treatment with alpha-blockade. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2022 Main, Benndorf, Feldt-Rasmussen, Fugleholm, Kistorp, Loya, Poulsgaard, Rasmussen, Rossing, Sølling and Klose.) |
References: | World Neurosurg. 2019 Sep;129:503-513.e2. (PMID: 31154101) J Hypertens. 2020 Aug;38(8):1443-1456. (PMID: 32412940) J Hypertens. 2011 Nov;29(11):2049-60. (PMID: 21826022) N Engl J Med. 2007 Jul 19;357(3):306-8. (PMID: 17634472) Eur J Endocrinol. 2016 May;174(5):G1-G10. (PMID: 27048283) Endocr Connect. 2018 Jan;7(1):186-192. (PMID: 29217652) Endocr Pract. 2017 Aug;23(8):999-1005. (PMID: 28613940) J Clin Endocrinol Metab. 2014 Jun;99(6):1915-42. (PMID: 24893135) Acta Neurochir (Wien). 2011 Jan;153(1):85-9; discussion 89. (PMID: 20931241) Int J Obes (Lond). 2019 Feb;43(2):263-275. (PMID: 29717268) Cold Spring Harb Perspect Med. 2020 Apr 1;10(4):. (PMID: 31570378) Eur J Endocrinol. 2014 Feb 04;170(3):R109-19. (PMID: 24347425) Cancer Res. 2003 Sep 1;63(17):5615-21. (PMID: 14500403) J Clin Med. 2020 Jul 30;9(8):. (PMID: 32751501) J Clin Endocrinol Metab. 2019 Nov 1;104(11):5091-5099. (PMID: 30977831) Eur J Endocrinol. 2015 Dec;173(6):757-64. (PMID: 26346138) BMJ Case Rep. 2018 Oct 14;2018:. (PMID: 30323106) J Clin Endocrinol Metab. 2021 Sep 27;106(10):e4028-e4038. (PMID: 34089611) Exp Cell Res. 2001 Mar 10;264(1):29-41. (PMID: 11237521) Am J Hypertens. 1996 Aug;9(8):760-9. (PMID: 8862222) Cancers (Basel). 2021 Jul 01;13(13):. (PMID: 34282751) J Mol Diagn. 2017 Jan;19(1):4-23. (PMID: 27993330) Cancer Genet. 2012 Jan-Feb;205(1-2):1-11. (PMID: 22429592) Nat Rev Cancer. 2011 Apr;11(4):289-301. (PMID: 21430697) Front Endocrinol (Lausanne). 2020 Oct 27;11:587769. (PMID: 33193100) Am J Surg Pathol. 2021 Sep 1;45(9):1264-1273. (PMID: 33826547) Brain Res. 1986 Oct 29;386(1-2):69-77. (PMID: 3779422) Neth J Med. 2013 Dec;71(10):512-7. (PMID: 24394736) Cancers (Basel). 2019 Jul 29;11(8):. (PMID: 31362359) |
فهرسة مساهمة: | Keywords: Head and neck paraganglioma (HNPGL); SDHB gene; alpha blockade; catecholamine; multidisciplinary approach; neuroendochrine tumor; paraganglioglioma; rehabilitation |
المشرفين على المادة: | 0J45DE6B88 (Normetanephrine) EC 1.3.5.1 (SDHB protein, human) EC 1.3.99.1 (Succinate Dehydrogenase) EC 3.1.3.67 (PTEN Phosphohydrolase) EC 3.1.3.67 (PTEN protein, human) R5H8897N95 (Labetalol) |
تواريخ الأحداث: | Date Created: 20220502 Date Completed: 20220503 Latest Revision: 20220716 |
رمز التحديث: | 20221213 |
مُعرف محوري في PubMed: | PMC9044027 |
DOI: | 10.3389/fendo.2022.857504 |
PMID: | 35498434 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1664-2392 |
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DOI: | 10.3389/fendo.2022.857504 |