Identification of novel missense mutation in a patient with an asymptomatic para-aortic paraganglioma
Autor: | Salah Daghlas, Rajani Gundluru, Uzma Khan, Ayman Nada |
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Rok vydání: | 2023 |
Předmět: |
Adult
medicine.medical_specialty Adolescent Cousin Adrenal Gland Neoplasms Mutation Missense Pheochromocytoma Asymptomatic Gastroenterology Paraganglioma Internal medicine medicine Missense mutation Humans Genetic Testing Family history Kidney business.industry General Medicine medicine.disease medicine.anatomical_structure Mutation (genetic algorithm) Female medicine.symptom business |
Zdroj: | BMJ case reports. 14(10) |
ISSN: | 1757-790X |
Popis: | A 31-year-old Caucasian woman underwent a standard workup as a potential kidney transplant donor. Kidney donor protocol CT showed a left para-aortic hypervascular mass suspicious for a paraganglioma. Biochemical workup revealed elevated urinary catecholamines, supporting this suspicion. The patient underwent surgical resection with histopathological evaluation that confirmed the diagnosis. Endocrine evaluation 2 years later revealed a family history of a cousin with a history of pheochromocytoma as a teenager. A genetic panel identified a missense mutation in succinate dehydrogenase C (c.202T>C; p.Ser68Pro), which was described as a variant of unknown significance. In silico analysis suggested that it may be a deleterious mutation. We concluded that this mutation may be pathogenic, considering these supporting pieces of evidence and her early-onset paraganglioma. This report highlights the importance of genetic screening in patients with paragangliomas/pheochromocytomas, since many cases are familial. Additionally, it underscores the importance of evaluating and documenting cases of variants of unknown significance. |
Databáze: | OpenAIRE |
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