ECE2021 Audio Eposter Presentations Endocrine-Related Cancer (25 abstracts)
Paraganglioma of the basis cranii due to somatic mutations ind SDHB and PTEN genes
Ailsa Maria Main 1 , Marianne Klose 1 , Krogh Rasmussen 1 , Anand Chainsukh Loya 2 , Caroline Maria Rossing 3 , Thomas Kistorp 4 , Kaare Fugleholm Buch 5 , Christine Soelling 6 , Lars Poulsgaard 5 , Goetz Benndorf 7 & Ulla Feldt-Rasmussen 1
1Rigshospitalet, Endocrinology, Copenhagen, Denmark; 2Rigshospitalet, Pathology, Copenhagen, Denmark; 3Rigshospitalet, Genomic Medicine, Copenhagen, Denmark; 4Rigshospitalet, Anesthesia, Copenhagen, Denmark; 5Rigshospitalet, Neurological Surgery, Copenhagen, Denmark; 6Rigshospitalet, Neurosurgical Anesthesia, Copenhagen, Denmark; 7Rigshospitalet, Radiology, Copenhagen, Denmark
Head and neck paragangliomas (HNPGLs) are a type of neuroendocrine tumour. They arise from the sympathetic ganglia and can be either sporadic or due to hereditary syndromes (up to 40%). Most HNPGLs do not produce significant amounts of catecholamines1. Often, HNPGLs are detected in late stages due to compression or infiltration of cranial structures1. We report a case of a paraganglioma of the basis cranii due to somatic variants of SDHB (succinate dehydrogenase gene B) and PTEN (phosphatase and tensin homolog) with both an unusually serious presentation and a surprisingly good outcome. 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. She spent a total of 72 days in the ICU and on the 31st day clinical assessment revealed foramen jugulare syndrome and paralysis of the right n. facialis. A CT cerebrum, MRI, PET-CT, MIBG-scintigraphy and a Ga-Dotatoc PET confirmed a right-sided tumour of the basis cranii of 6.5 × 4.5 cm. A urine test showed high amounts of norepinephrine (35.1–45.4 nmol/l, ref < 1.09 nmol/l) and a tumour biopsy confirmed the diagnosis of a paraganglioma. Phenoxybenzamine and Labetalol was used to stabilize blood pressure. She underwent two tumour embolization treatments before total tumour resection on day 243. Plasma norepinephrine normalised after surgery (0.77 nmol/l, ref: < 1.09 nmol/l) as did her blood pressure (approx. 130/80). The damage to the cranial nerves was permanent. The patient has made a remarkable recovery and will need rehabilitation to improve her physical performance. Next generation sequencing (NGS) of tumour tissue revealed somatic mutations of SDHB (c.565T > G, p.C189G) and PTEN (c.834C > G, p.F278L). The NGS genome panel showed no germline variants and whole genome sequencing was negative. An SNP-array of tumour DNA showed loss of heterozygosity of p.1 (including SDHB) and p.11. It is very rare that a patient with a somatic variant in the SDHB gene does not hold a germline variant. SDHB variants are often associated with malignancy and future follow-up with scans and clinical assessments will show whether this is a case of a benign or malignant paraganglioma.
Reference
1. Lenders et al. Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma (…). J Hypertens 2020;38(8):1443–56.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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