Absence of RET proto-oncogene mutations in a father and son with pheochromocytoma and pancreatic islet cell tumor.
BACKGROUND
We describe a father and son with a combination of pheochromocytoma and pancreatic islet cell tumor. Although its familial occurrence is rare, this syndrome could be called overlapping-type multiple endocrine neoplasia (MEN), since it fulfills the criteria for both type 1 and type 2 MEN. Recently, germ line mutations of the RET proto-oncogene (RET) were found to be related to tumorigenesis and disease phenotypes in type 2 MEN.


METHODS
Using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis, we looked for germ line mutations of RET in 8 members of this family, including the 2 patients.


RESULTS
Analysis of RET exons 10, 11 and 16, which contain the hot-spot codons for MEN type 2, revealed no mutations in any individual examined.


CONCLUSIONS
These findings suggest that these 3 exons in RET are not related to tumorigenesis in overlapping-type MEN.
Kawasaki
T
T
Department of Urology, School of Medicine, Niigata, Japan.
Tomita
Y
Y
Takahashi
H
H
Takeda
M
M
Tanaka
H
H
Tamiya
Y
Y
Takahashi
K
K
D007516:Adenoma, Islet Cell / Q000235:genetics*; D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000328:Adult; D029721:Drosophila Proteins; D006801:Humans; D008297:Male; D009154:Mutation; D009378:Neoplasms, Multiple Primary; D010190:Pancreatic Neoplasms / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D011519:Proto-Oncogenes; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*
D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila