title: Three endocrine neoplasms: an unusual combination of pheochromocytoma, pituitary adenoma, and papillary thyroid carcinoma.
abstract: BACKGROUND
  Three endocrine neoplasms-bilateral pheochromocytomas, somatotrophic pituitary adenoma inducing acromegaly, and papillary carcinoma of the thyroid-occurred concurrently in a patient. A genetic mutation was hypothesized. Possible previously described genetic mutations were explored.
  
  
  METHODS
  Clinical assessments, laboratory data, images of tumors, histopathology, and immunohistochemistry of excised tissues documented the three neoplasms. Clinical assessment of the patient, family history, and a review of the literature sought a familial basis for the disorders.
  
  
  RESULTS
  The methods confirmed the presence of three endocrine neoplasms. Each neoplasm was surgically excised and histologically verified. Surgical and (131)I treatments reduced the papillary carcinoma, but eventually this tumor progressed to a lethal degree. History, including that of nine siblings, uncovered no familial neoplasms. No similar case was found in the literature, but possible associations with germline mutations were considered.
  
  
  CONCLUSIONS
  The concurrent development of pheochromocytomas, pituitary somatotrophic adenoma, and papillary thyroid carcinoma appears to be unique. Nevertheless, such tumors, particularly bilateral pheochromocytomas, strongly suggest a de novo germline mutation in a gene not previously associated with multiple endocrine neoplasia syndromes.
authors.affiliation: Division of Nuclear Medicine, Department of Radiology, University of Michigan Health System, Ann Arbor, Michigan 48109, USA. jsisson@umich.edu
authors.forename: James C
authors.initials: JC
authors.lastname: Sisson
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Giordano
authors.forename: Anca M
authors.initials: AM
authors.lastname: Avram
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000473:pathology; D000317:Adrenergic alpha-Antagonists / Q000627:therapeutic use; D000328:Adult; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D044963:Biopsy, Fine-Needle; D002277:Carcinoma; D002291:Carcinoma, Papillary / Q000473:pathology* / Q000601:surgery; D003131:Combined Modality Therapy; D017809:Fatal Outcome; D020249:Hormone Replacement Therapy; D006728:Hormones / Q000097:blood / Q000652:urine; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D007150:Immunohistochemistry; D007457:Iodine Radioisotopes; D008279:Magnetic Resonance Imaging; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000473:pathology* / Q000601:surgery; D010643:Phenoxybenzamine / Q000627:therapeutic use; D010673:Pheochromocytoma / Q000473:pathology* / Q000601:surgery; D010911:Pituitary Neoplasms / Q000473:pathology* / Q000601:surgery; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000473:pathology*; D013965:Thyroidectomy; D013974:Thyroxine / Q000627:therapeutic use; D014057:Tomography, X-Ray Computed
chemical_list: D000317:Adrenergic alpha-Antagonists; D000893:Anti-Inflammatory Agents; D006728:Hormones; D007457:Iodine Radioisotopes; D010643:Phenoxybenzamine; D013974:Thyroxine; D006854:Hydrocortisone