A 40-YEAR FOLLOW-UP OF A PATIENT WITH MULTIPLE PARAGANGLIOMAS AND A SDHD MUTATION
| Autor: | Sabina Zacharieva, Atanaska Elenkova, Gimenez-Roqueplo Ap, Ralitsa Robeva |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
Endocrine and Autonomic Systems business.industry Endocrinology Diabetes and Metabolism medicine.medical_treatment Context (language use) Multimodal therapy Case Report Disease medicine.disease Pulmonary embolism Radiation therapy Endocrinology Germline mutation Paraganglioma medicine SDHD Radiology business |
| Popis: | CONTEXT: Germline mutations in Succinate Dehydrogenase Complex Subunit D gene (SDHD) predispose to predominantly benign head and neck and/or thoracic-abdominal pelvic paragangliomas (PGLs). OBJECTIVE: We present the case of a patient carrying a germline SDHD mutation responsible for multiple PGLs, who was followed for 40 years. He was initially diagnosed with a left cervical PGL at the age of 23 years, treated by surgery. Then, he recurred and developed a multifocal disease. The second-line therapeutic option was a three-dimensional conformal radiotherapy performed in 2008. In 2013 the patient had clinical, hormonal, PET- and SPECT-CT data revealing a disease progression. The treatment with the long-acting somatostatin analogue Octreotide Lar was carried out till the patient’s death caused by pulmonary embolism in December 2014. RESULTS: Complex treatment led to a long clinical and biochemical remission and control of tumor growth. CONCLUSIONS: Despite their usually benign behavior, multicentric SDHD-related PGLs can require a multimodal approach involving surgery, radiotherapy and medical treatment for providing a long-term control of the disease and maintaining a good quality of life. |
| Databáze: | OpenAIRE |
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