Presence of the 918 mutation in the RET proto-oncogene in a Mexican patient with multiple endocrine neoplasia type 2B.
The dominantly inherited Multiple Endocrine Neoplasia cancer syndrome type 2B (MEN2B) is characterized by the presence of medullary thyroid carcinoma (MTC), phaechromocytoma (PHAEO), mucosal neuromas, ganglioneuromas of the intestinal tract, skeletal and ophthalmic abnormalities. MEN2B has been associated with a specific point mutation in the tyrosine kinase domain of the RET proto-oncogene (918RET mutation). We investigated a Mexican patient MEN2B for the presence of the 918RET mutation using the polymerase chain reaction followed by restriction endonuclease digestion. We have detected this mutation in DNA from the patient's MTC, PHAEO, and peripheral blood cells, but not in DNA from the patient's mother, suggesting that this mutation arose de novo. Our results are in agreement with the suggestion that the 918RET mutation is present in a vast majority of MEN2B cases around the world.
Hidalgo
A
A
Oncological Research Unit, Oncology Hospital, National Medical Center Siglo XXI-IMSS, Mexico City.
Medrano
M E
ME
Rodrìguez
S
S
Franco
C
C
Martinez
I
I
Benítez
L
L
Salcedo
M
M
D000328:Adult; D004247:DNA / Q000235:genetics / Q000378:metabolism; D004262:DNA Restriction Enzymes / Q000378:metabolism; D029721:Drosophila Proteins; D004586:Electrophoresis; D005260:Female; D006801:Humans; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*
D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D004247:DNA; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila; D004262:DNA Restriction Enzymes