A Elenkova1, R Robeva1, A P Gimenez-Roqueplo2,3, S Zacharieva1. 1. Medical University of Sofia Faculty of Medicine - Department of Endocrinology, USHATE "Acad. Ivan Penchev", Sofia, Bulgaria. 2. Paris University, PARCC, INSERM, F-75015, Paris, France. 3. Hôpital Européen Georges Pompidou, F-75015 Paris, France - Genetics Department, Paris, France.
Abstract
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.
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.
Authors: B E Baysal; R E Ferrell; J E Willett-Brozick; E C Lawrence; D Myssiorek; A Bosch; A van der Mey; P E Taschner; W S Rubinstein; E N Myers; C W Richard; C J Cornelisse; P Devilee; B Devlin Journal: Science Date: 2000-02-04 Impact factor: 47.728
Authors: D Astuti; F Latif; A Dallol; P L Dahia; F Douglas; E George; F Sköldberg; E S Husebye; C Eng; E R Maher Journal: Am J Hum Genet Date: 2001-06-12 Impact factor: 11.025
Authors: Soili Kytölä; Brita Nord; Elisabeth Edström Elder; Tobias Carling; Magnus Kjellman; Björn Cedermark; Claes Juhlin; Anders Höög; Jorma Isola; Catharina Larsson Journal: Genes Chromosomes Cancer Date: 2002-07 Impact factor: 5.006
Authors: Mark S Persky; Avi Setton; Yasunari Niimi; Jonathan Hartman; Douglas Frank; Alex Berenstein Journal: Head Neck Date: 2002-05 Impact factor: 3.147
Authors: S H Kreisman; N Ah Mew; M Arsenault; S J Nessim; J B Halter; M Vranic; E B Marliss Journal: Am J Physiol Endocrinol Metab Date: 2000-05 Impact factor: 4.310
Authors: Peter Patetsios; Dennis R Gable; Wilson V Garrett; Jeffrey P Lamont; Joseph A Kuhn; William P Shutze; Harry Kourlis; Bradley Grimsley; Gregory J Pearl; Bertram L Smith; C M Talkington; Jesse E Thompson Journal: Ann Vasc Surg Date: 2002-04-18 Impact factor: 1.466