PMID- 18045948
OWN - NLM
STAT- MEDLINE
DCOM- 20080225
LR  - 20071129
IS  - 1351-0088 (Print)
IS  - 1351-0088 (Linking)
VI  - 14
IP  - 4
DP  - 2007 Dec
TI  - Pheochromocytoma: an update on genetics and management.
PG  - 935-56
AB  - Pheochromocytomas (PHEOs) are rare neoplasms that produce catecholamines and 
      usually arise from the adrenal medulla and are considered to be an adrenal 
      paraganglioma (PGL). Closely related tumors of extraadrenal sympathetic and 
      parasympathetic paraganglia are classified as extraadrenal PGLs. Most PHEOs are 
      sporadic, but a significant percentage (approximately 25%) may be found in 
      patients with germline mutations of genes predisposing to the development of von 
      Hippel-Lindau disease, neurofibromatosis 1, multiple endocrine neoplasia type 1 
      (MEN1) and 2 (MEN2), and the PGL/PHEOs syndrome, based on the described mutations 
      of the genes for succinate dehydrogenase subunit D (SDHD), B (SDHB), and C 
      (SDHC). As one out of four PHEOs turns out to be a hereditary clinical entity, 
      screening for genetic alterations is important, as it provides useful information 
      for a rational diagnostic approach and management. This review discusses the 
      genetics, the pathophysiology of hypertension, the clinical picture, the 
      biochemical and imaging diagnosis, and the preferred therapeutic approach for 
      PGLs/PHEOs. Furthermore, it emphasizes the need for genetic testing in cases with 
      apparently sporadic PHEOs.
FAU - Karagiannis, Asterios
AU  - Karagiannis A
AD  - Division of Endocrinology, Second Propedeutic Department of Internal Medicine, 
      Medical School, Hippokration Hospital, Aristotle University of Thessaloniki, 
      Thessaloniki 54642, Greece.
FAU - Mikhailidis, Dimitri P
AU  - Mikhailidis DP
FAU - Athyros, Vasilios G
AU  - Athyros VG
FAU - Harsoulis, Faidon
AU  - Harsoulis F
LA  - eng
PT  - Journal Article
PT  - Review
PL  - England
TA  - Endocr Relat Cancer
JT  - Endocrine-related cancer
JID - 9436481
RN  - 0 (Chromogranin A)
SB  - IM
MH  - Adrenal Gland Neoplasms/epidemiology/*genetics/*therapy
MH  - Adrenal Medulla/pathology
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Child
MH  - Chromogranin A/blood/genetics
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 2a/genetics
MH  - Paraganglioma/genetics
MH  - Pheochromocytoma/epidemiology/*genetics/*therapy
MH  - Prevalence
RF  - 194
EDAT- 2007/11/30 09:00
MHDA- 2008/02/26 09:00
CRDT- 2007/11/30 09:00
PHST- 2007/11/30 09:00 [pubmed]
PHST- 2008/02/26 09:00 [medline]
PHST- 2007/11/30 09:00 [entrez]
AID - 14/4/935 [pii]
AID - 10.1677/ERC-07-0142 [doi]
PST - ppublish
SO  - Endocr Relat Cancer. 2007 Dec;14(4):935-56. doi: 10.1677/ERC-07-0142.