ea0037gp.29.07 | Endocrine tumours and neoplasia – Adrenal Tumour | ECE2015
Eijkelenkamp Karin
, Osinga Thamara E
, de Jong Mirjam M
, Sluiter Wim J
, Dullaart Robin P F
, Links Thera P
, Kerstens Michiel N
, van der Horst-Schrivers Anouk N A
Context: Germline mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to head and neck paraganglioma (HNPGL), sympathetic PGL, phaeochromocytoma and renal cell carcinoma for which regular surveillance is required. SDHB-associated tumors harbor germline and somatic mutations, consistent with Knudsons two-hit hypothesis stating that the combination of an inactivating germline mutation as a first hit and somatic loss of funct...