TY - JOUR
T1 - Loss of heterozygosity on the short arm of chromosome 3 in sporadic, von hippel‐lindau disease‐associated, and familial pheochromocytoma
AU - Zeiger, Martha A.
AU - Zbar, Berton
AU - Keiser, Harry
AU - Linehan, W. Marston
AU - Gnarra, James R.
PY - 1995/7
Y1 - 1995/7
N2 - Pheochromocytomas occur sporadically and are associated with several dominantly inherited cancer syndromes, including von Hippel‐Lindau (VHL) disease. We examined 14 pheochromocytomas (four from VHL patients, nine from sporadic patients, and one from a patient with familial pheochromocytoma) for loss of heterozygosity on chromosome arm 3p by using the polymerase chain reaction and restriction fragment length polymorphisms at eight loci. Loss of heterozygosity was detected in 8 of 14 pheochromocytomas examined: in three of the four VHL‐associated tumors, in four of the nine sporadic tumors, and in the familial pheochromocytoma‐associated tumor. Deletion of the inherited wild‐type VHL allele was demonstrated in both informative VHL‐associated pheochromocytomas, demonstrating involvement of VHL in pheochromocytoma development. However, because VHL mutations have not been detected in sporadic pheochromocytomas, VHL and/or another chromosome arm 3p gene may be involved in the etiology of these tumors. © 1995 Wiley‐Liss, Inc.
AB - Pheochromocytomas occur sporadically and are associated with several dominantly inherited cancer syndromes, including von Hippel‐Lindau (VHL) disease. We examined 14 pheochromocytomas (four from VHL patients, nine from sporadic patients, and one from a patient with familial pheochromocytoma) for loss of heterozygosity on chromosome arm 3p by using the polymerase chain reaction and restriction fragment length polymorphisms at eight loci. Loss of heterozygosity was detected in 8 of 14 pheochromocytomas examined: in three of the four VHL‐associated tumors, in four of the nine sporadic tumors, and in the familial pheochromocytoma‐associated tumor. Deletion of the inherited wild‐type VHL allele was demonstrated in both informative VHL‐associated pheochromocytomas, demonstrating involvement of VHL in pheochromocytoma development. However, because VHL mutations have not been detected in sporadic pheochromocytomas, VHL and/or another chromosome arm 3p gene may be involved in the etiology of these tumors. © 1995 Wiley‐Liss, Inc.
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U2 - 10.1002/gcc.2870130303
DO - 10.1002/gcc.2870130303
M3 - Article
C2 - 7669733
AN - SCOPUS:0029057487
SN - 1045-2257
VL - 13
SP - 151
EP - 156
JO - Genes, Chromosomes and Cancer
JF - Genes, Chromosomes and Cancer
IS - 3
ER -