April - June 2019, Volume 15, Issue 2

Elenkova A, Robeva R, Gimenez-Roqueplo AP, Zacharieva S

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

Acta Endo (Buc) 2019, 15 (2): 254-260
doi: 10.4183/aeb.2019.254

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 SPECTCT 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.

Keywords: paraganglioma, succinate dehydrogenase, multicentricity.

Correspondence: Atanaska Elenkova MD, Medical University of Sofia, Department of Endocrinology, USHATE “Acad. Ivan Penchev” 2, Zdrave Str. Sofia, 1431, Bulgaria, E-mail: atanaskae@gmail.com