Incidental detection of familial medullary thyroid carcinoma by calcitonin screening for nodular thyroid disease.
Serum calcitonin screening has recently been found to be a useful supplement to fine-needle aspiration biopsy, ultrasound and radionuclide imaging in the evaluation of thyroid nodules. We describe a case where introduction of routine calcitonin screening in nodular thyroid disease led to the detection of a family with medullary thyroid carcinoma. The benefits and problems of basal and stimulated serum calcitonin testing and ret-proto-oncogene mutation studies are exemplified and we discuss the appropriate use and interpretation of these tests. We conclude that routine basal serum calcitonin measurement in nodular thyroid disease and thoughtful use of ret-mutation analysis is cost-effective in detecting medullary thyroid carcinoma and multiple endocrine neoplasia type II.
Mayr
B
B
Department of Clinical Endocrinology, Medizinische Hochschule Hannover, 30623 Hannover, Germany.
Brabant
G
G
von zur Mühlen
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A
D000328:Adult; D002116:Calcitonin / Q000097:blood*; D018276:Carcinoma, Medullary / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D004247:DNA / Q000737:chemistry; D003937:Diagnosis, Differential; D029721:Drosophila Proteins; D005260:Female; D006801:Humans; D015592:Immunoradiometric Assay; D010375:Pedigree; D010418:Pentagastrin; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000737:chemistry / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D011877:Radionuclide Imaging; D020794:Receptor Protein-Tyrosine Kinases / Q000737:chemistry / Q000235:genetics; D017422:Sequence Analysis, DNA; D013961:Thyroid Gland / Q000473:pathology*; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D016606:Thyroid Nodule / Q000175:diagnosis
D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D002116:Calcitonin; D004247:DNA; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila; D010418:Pentagastrin