CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
artículos
Título:
Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry
Autor/es:
BIRKE BAUSCH,MD; ULRICH WELLNER, MD,; MATHIEU PEYRE, MD,; CARSTEN C. BOEDEKER,MD; FREDERIK J. HES, MD; ,MARIAGIULIA ANGLANI, MD; JOSE M. DE CAMPOS, MD,; HIROSHI KANNO, MD, PHD; EAMONN R. MAHER, MD,; TOBIAS KRAUSS, MD,; SANSO GABRIELA, PHD; ,MARTA BARONTINI, MD,; P. H. NEUMANN, MD
Revista:
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK
Editorial:
JOHN WILEY & SONS INC
Referencias:
Lugar: New York; Año: 2015
ISSN:
1043-3074
Resumen:
Abstract   Background: Endolymphatic sac tumors (ELSTs) are a component of von Hippel-Lindau (VHL) disease resulting in audiovestibular defects. The prevalence has been reported to be as high as 16% in VHL patients in the USA. Comparable data from large international registries regarding heritable fraction and characteristics of such ELSTs, germline VHL mutation frequency and prevalence are lacking. Methods: Systematic registration of ELSTs from centers of otorhinolaryngology in Germany, France, Italy, Spain and the Netherlands was performed (step 1). We then (step 2) evaluated multidisciplinary VHL centers? registries, including those in Italy, the UK, Japan, Spain and Argentina for VHL patients with MRI of the head. Molecular genetic analyses of the VHL gene were offered to all patients. Results: Our population-based registry contained 93 ELST patients and 1789 VHL patients. Forty-one had apparently sporadic and 52 VHL-associated ELSTs. The prevalence of VHL germline mutations in sporadic ELSTs was 39%. The prevalence of ELSTs in VHL patients was 3.6%. ELST was the initial manifestation in 31% of VHL patients. All patients with sporadic and 94% of VHL-associated ELSTs initially presented with audiovestibular symptoms. Compared to those with sporadic tumors, VHL-associated ELST patients were younger (median 29 vs. 40 years, p=0.001) and often affected by bilateral tumors (0/25 vs 13/68, p=0.021). Conclusion: The prevalence of ELST in VHL disease in this international ELST registry is dramatically lower compared to the literature data. VHL-associated ELSTs can be the first presentation of the syndrome and mimic sporadic tumors, thus, emphasizing the role of molecular testing.