Inherited medullary thyroid carcinoma: a final monoclonal mutation in one of multiple clones of susceptible cells.
Inherited medullary thyroid carcinomas contain one form of glucose-6-phosphate dehydrogenase (G6PD) in black female patients who are mosaic in normal tissues for G6PD types A and B. The same individual may have several tumors each containing either G6PD A or G6PD B. The data suggest that the inherited defect is an initial mutation producing multiple clones of defective cells; each tumor then arises as a final mutation in one clone of these cells.
D044383:Black People; D002277:Carcinoma / Q000201:enzymology / Q000235:genetics*; D002999:Clone Cells / Q000201:enzymology; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007527:Isoenzymes / Q000235:genetics* / Q000378:metabolism; D009030:Mosaicism; D009154:Mutation; D013964:Thyroid Neoplasms / Q000201:enzymology / Q000235:genetics*
D007527:Isoenzymes; D005954:Glucosephosphate Dehydrogenase