Pheochromocytoma-Paraganglioma: Translational Approach from Genetics to Clinical Neuroendocrinology

Lider, Sofia; Gheorghiu, Monica Livia

doi:10.4183/aeb.2018.570

Cited by 2 publications

(1 citation statement)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Extensive genetic research over the past decade revealed new pheochromocytoma susceptibility genes, so at present familial forms are estimated to be almost 40% (29). Uncommon clinical presentation or biochemical profile as well as unusual comorbidities in patients with PPGL may open a window to new discoveries in the field of genetics of this rare tumor (29,34,41).…”

Section: Discussionmentioning

confidence: 99%

40-Year Follow-Up of a Patient with Multiple Paragangliomas and a SDHD Mutation

et al. 2019

View full text Add to dashboard Cite

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 threedimensional 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.

show abstract