title: Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites.
abstract: BACKGROUND
  Hereditary pheochromocytoma is associated with germline mutations of a set of susceptibility genes to which the TMEM127 gene has recently been added. Patients with TMEM127 mutations have been thus far exclusively identified with adrenal tumors.
  
  
  METHODS
  A population-based series of 48 consecutive individuals from the European-American Pheochromocytoma Paraganglioma Registry with multiple paraganglial tumors and, of these, one extraadrenal paraganglial tumor were selected for this study. They all had normal results when screened for germline mutations of the genes RET, VHL, SDHB, SDHC, and SDHD. Germline mutation analysis of the TMEM127 gene included a search for intragenic mutations and large rearrangements.
  
  
  RESULTS
  Of the 48 eligible patients with extraadrenal paraganglial tumors, two (4.2%) were found to have TMEM127 mutations. One patient had multiple head and neck paraganglioma and one retroperitoneal extraadrenal and adrenal tumor.
  
  
  CONCLUSIONS
  TMEM127 germline mutations confer risks of extraadrenal paraganglial tumors in addition to the documented adrenal pheochromocytoma. Thus, surveillance for extraadrenal and adrenal paraganglial tumors is likely warranted in TMEM127 mutation carriers, although the true prevalence should be evaluated in patients with extraadrenal paraganglial tumors.
authors: Department of Nephrology and General Medicine, University Medical Center, Albert-Ludwigs-University, Freiburg, Germany. hartmut.neumann@uniklinik-freiburg.de
authors: Hartmut P H
authors: HP
authors: Neumann
authors: Maren
authors: M
authors: Sullivan
authors: Aurelia
authors: A
authors: Winter
authors: Angelica
authors: A
authors: Malinoc
authors: Michael M
authors: MM
authors: Hoffmann
authors: Carsten C
authors: CC
authors: Boedeker
authors: Hartmut
authors: H
authors: Bertz
authors: Martin K
authors: MK
authors: Walz
authors: Lars C
authors: LC
authors: Moeller
authors: Kurt W
authors: KW
authors: Schmid
authors: Charis
authors: C
authors: Eng