title: Primary hyperparathyroidism, C-cell hyperplasia and papillary thyroid carcinoma in a patient with RET germline polymorphism S836S.
abstract: BACKGROUND
  In most examined populations the RET germline polymorphism S836S is found in about 3.6% of the normal population but in about 9% of patients suffering from sporadic C-cell hyperplasia or medullary thyroid carcinoma. The polymorphism S836S is thought to be involved in the development of sporadic medullary thyroid carcinoma.
  
  
  METHODS
  We report a 48-year-old woman suffering from primary hyperparathyroidism (parathormone 121-166 pg/ml, normal <72), bilateral diffuse and nodular C-cell hyperplasia (calcitonin after pentagastrin administration 156 pg/ml, normal <4.6), and papillary thyroid carcinoma. Two commercial analyses of RET did not reveal any germline mutation within the known hot spots. However, sequencing revealed the presence of the RET polymorphism S836S. Following total thyroidectomy and removal of two hyperplastic parathyroid glands parathormone decreased to 51 pg/ml and calcitonin was no longer detected.
  
  
  CONCLUSIONS
  The pathogenetic importance of the RET polymorphism S836S is still obscure. However, according to the published overrepresentation of the RET polymorphism S836S in patients suffering from apparent sporadic medullary thyroid carcinoma, it is conceivable that it also plays a role in multiglandular endocrine disease.
authors.affiliation: Department for General, Visceral, and Vascular Surgery, Martin Luther University Halle/Wittenberg, Ernst-Grube-Strasse 40, 06097 Halle/Saale, Germany. michael.brauckhoff@medizin.uni-halle.de
authors.forename: Michael
authors.initials: M
authors.lastname: Brauckhoff
authors.forename: Oliver
authors.initials: O
authors.lastname: Gimm
authors.forename: Udo
authors.initials: U
authors.lastname: Bilkenroth
authors.forename: Raoul
authors.initials: R
authors.lastname: Hinze
authors.forename: Henning
authors.initials: H
authors.lastname: Dralle
mesh_terms: D002291:Carcinoma, Papillary / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D029721:Drosophila Proteins; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics*; D006965:Hyperplasia; D008875:Middle Aged; D010280:Parathyroid Glands / Q000473:pathology; D011110:Polymorphism, Genetic; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery
chemical_list: D029721:Drosophila Proteins; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila