Unresolved issues in the genesis and management of multiple endocrine neoplasia type 2.
It has been slightly less than 3 years since mutations of the RET proto-oncogene were identified in multiple endocrine neoplasia type 2. The period since the initial report has been one of intense activity with a wide spectrum of mutations identified in exons 10, 11, 13, 14, 15 and 16 of this gene. Recent studies have provided experimental evidence for an activating effect of the exon 11 and 16 mutations. Two questions are addressed in this report: the high rate of false positive tests in prospective screening studies and the implications for future interpretation of this test: and the mechanism of transformation in MEN 2.
Gagel
R F
RF
Section of Endocrinology, University of Texas M.D. Anderson Cancer Center, Houston, USA.
D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D029721:Drosophila Proteins; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics* / Q000628:therapy*; D009154:Mutation; D010418:Pentagastrin; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
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; D010418:Pentagastrin