Absence of mutations in the MEN2A region of the ret proto-oncogene in non-MEN 2A phaeochromocytomas.
作者： S. L. Chew , P. Lavender , A. Jain , A. Weber , R. J. M. Ross
DOI: 10.1111/J.1365-2265.1995.TB02593.X
关键词:
摘要: Summary OBJECTIVE To determine the presence of abnormalities MENZA region ret proto-oncogene in phaeochromocytomas/paragangllomas (PHAEO) different aetiologies. DESIGN Total RNA was extracted from tumours and used as templates for reverse transcriptase polymerase chain reactions. A primer pair, which encompasses is mutated germ-line patients with MEN 2A, used. The resulting 262-bp product sequenced. PATIENTS Ten PHAEOs were examined. Four von Hippel-Lindau disease patients; five sporadic, Isolated tumours; one a patient multiple endocrine neoplasia type 2A (MEN 2A). medullary thyroid cancer single also examined. RESULTS heterozygous TGC to CGC mutation codon 634 (cysteine arginine) found In PHAEO patient. fragment not two (one malignant secretory paraganglloma), although Intra-cellular tyrosine kinaw domain detected these tumours. cysteine codons normal all other non-MEN PHAEOs. CONCLUSION Mutations key may be specific 2A.
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