Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

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Abstract

Nowadays, 65-80% of pheochromocytoma and paraganglioma (PPGL) cases are explained by germline or somatic mutations in one of 22 genes. Several genetic testing algorithms have been proposed, but they usually exclude sporadic-PPGLs (S-PPGLs) and none include somatic testing. We aimed to genetically characterise S-PPGL cases and propose an evidence-based algorithm for genetic testing, prioritising DNA source.

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Journal

Journal ID (iso-abbrev): J. Med. Genet.

Title: Journal of medical genetics

ISSN (Electronic): 1468-6244

ISSN (Print): 0022-2593

Publication date (Electronic): Oct 2015

Volume: 52

Issue: 10

Affiliations

[1 ] Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain.

[2 ] Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

[3 ] Department of Endocrinology, Hospital General Universitario de Ciudad Real, Ciudad Real, Spain.

[4 ] Department of Endocrinology, Hospital Universitario Severo Ochoa, Madrid, Spain.

[5 ] Department of Endocrinology, Hospital Universitario Puerta de Hierro, Madrid, Spain.

[6 ] Department of Endocrinology, Hospital Universitario La Paz, Madrid, Spain.

[7 ] Department of Endocrinology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

[8 ] Department of Endocrinology, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain.

[9 ] Department of Endocrinology, Hospital Universitario 12 de Octubre, Madrid, Spain.

[10 ] Department of Endocrinology, Hospital Clínico San Carlos, Madrid, Spain.

[11 ] Department of Endocrinology, Hospital El Bierzo, León, Spain.

[12 ] Department of Endocrinology, Complejo Hospitalario Universitario de Albacete, Albacete, Spain.

[13 ] Department of Endocrinology, Hospital Universitario de La Princesa, Instituto Princesa, Madrid, Spain.

[14 ] Oncologic Pathology Group, Institut de Recerca Biomèdica de Lleida, Lleida, Spain.

[15 ] Department of Endocrinology, Hospital General Universitario Reina Sofía, Murcia, Spain.

[16 ] Department of Pediatrics and Clinical Genetics Unit, Clínica Universidad de Navarra, Navarra, Spain.

[17 ] Department of Genetics, Hospital Universitario Virgen de las Nieves, Granada, Spain.

[18 ] Department of Endocrinology, Hospital Universitario de Móstoles, Madrid, Spain.

[19 ] Department of Pediatric Oncology and Hematology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

[20 ] Department of Genetics, Hospital Universitario Donostia, Gipuzkoa, Spain.

[21 ] Department of Endocrinology, Complejo Hospitalario de Navarra, Navarra, Spain.

[22 ] Department of General Surgery and Digestive Tract, Complejo Asistencial de León, León, Spain.

[23 ] Department of Endocrinology, Hospital Virgen de la Salud-Complejo Hospitalario de Toledo, Toledo, Spain.

[24 ] Department of Otorhinolaryngology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

[25 ] Genetic Counselling Cancer Unit, Hospital Universitari i Politecnic La Fe, Valencia, Spain.

[26 ] Department of Endocrinology, Hospital General Universitario de Alicante, Alicante, Spain.

[27 ] Department of Endocrinology, Hospital Universitario de Fuenlabrada, Madrid, Spain.

[28 ] Erasmus Universitair Medisch Centrum Rotterdam, Rotterdam, The Netherlands.

Article

Publisher Item ID: jmedgenet-2015-103218

DOI: 10.1136/jmedgenet-2015-103218

PubMed ID: 26269449

SO-VID: fa1eb425-70dc-49a9-83c2-4c2bdc4b17c1

History

Keywords: Adrenal disorders,Cancer: endocrine,Endocrinology,Genetic screening/counselling,Paediatric oncology

Data availability:

Keywords: Adrenal disorders, Cancer: endocrine, Endocrinology, Genetic screening/counselling, Paediatric oncology

Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

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Karger: Endocrinology

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