ArticleActa endocrinologica (Bucharest, Romania : 2005)
A 40-YEAR FOLLOW-UP OF A PATIENT WITH MULTIPLE PARAGANGLIOMAS AND A SDHD MUTATION.
Article in Acta endocrinologica (Bucharest, Romania : 2005). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Abstract
contextGermline mutations in Succinate Dehydrogenase Complex Subunit D gene (SDHD) predispose to predominantly benign head and neck and/or thoracic-abdominal pelvic paragangliomas (PGLs).
objectiveWe 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.
resultsComplex treatment led to a long clinical and biochemical remission and control of tumor growth.
conclusionsDespite 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.
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