TY - GEN
T1 - The occurrence of SDHB gene mutations in pheochromocytoma
AU - Van Nederveen, Francien H.
AU - Dinjens, Winand N.M.
AU - Korpershoek, Esther
AU - De Krijger, Ronald R.
PY - 2006/1/1
Y1 - 2006/1/1
N2 - Pheochromocytomas (PCCs) are rare tumors arising from neural crest-derived chromaffin cells. The majority of these tumors are located in the adrenals and gives rise to catecholamine overproduction. In at least 10% of the cases the tumors are located outside the adrenal gland, in extra-adrenal sites like the bladder and the organ of Zuckerkandl. Recent investigations have found mutations in succinate dehydrogenase subunit B (SDHB), the gene coding for subunit B of the respiratory chain complex II. Mutations in the SDHB gene, with additional loss of the wildtype allele, result in loss of function of respiratory complex II and appear to correlate with extra-adrenal location of PCCs. Also, a link has been established between malignant behavior and inactivating mutations of SDHB. In this article we review the published SDHB gene mutations, as well as the location and behavior of the resulting PCCs.
AB - Pheochromocytomas (PCCs) are rare tumors arising from neural crest-derived chromaffin cells. The majority of these tumors are located in the adrenals and gives rise to catecholamine overproduction. In at least 10% of the cases the tumors are located outside the adrenal gland, in extra-adrenal sites like the bladder and the organ of Zuckerkandl. Recent investigations have found mutations in succinate dehydrogenase subunit B (SDHB), the gene coding for subunit B of the respiratory chain complex II. Mutations in the SDHB gene, with additional loss of the wildtype allele, result in loss of function of respiratory complex II and appear to correlate with extra-adrenal location of PCCs. Also, a link has been established between malignant behavior and inactivating mutations of SDHB. In this article we review the published SDHB gene mutations, as well as the location and behavior of the resulting PCCs.
KW - Extra-adrenal
KW - Genetics
KW - Malignancy
KW - Pheochromocytoma (PCC)
KW - Succinate dehydrogenase subunit B (SDHB)
UR - http://www.scopus.com/inward/record.url?scp=33845499926&partnerID=8YFLogxK
U2 - 10.1196/annals.1353.018
DO - 10.1196/annals.1353.018
M3 - Conference contribution
C2 - 17102084
AN - SCOPUS:33845499926
SN - 1573315974
SN - 9781573315975
T3 - Annals of the New York Academy of Sciences
SP - 177
EP - 182
BT - Pheochromocytoma
PB - Blackwell Publishing Inc./Futura Division
ER -