title: Hyperparathyroidism-jaw tumor syndrome: Results of operative management.
abstract: BACKGROUND
  Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor gene HRPT2/CDC73. The aim of the present study was to determine the optimal operative approach to parathyroid disease in patients with HPT-JT.
  
  
  METHODS
  A retrospective analysis of clinical and genetic features, parathyroid operative outcomes, and disease outcomes in 7 unrelated HPT-JT families.
  
  
  RESULTS
  Seven families had 5 distinct germline HRPT2/CDC73 mutations. Sixteen affected family members (median age, 30.7 years) were diagnosed with primary hyperparathyroidism (PHPT). Fifteen of the 16 patients underwent preoperative tumor localization studies and uncomplicated bilateral neck exploration at initial operation; all were in biochemical remission at most recent follow-up. Of these patients, 31% had multiglandular involvement; 37.5% of the patients developed parathyroid carcinoma (median overall survival, 8.9 years; median follow-up, 7.4 years). Long-term follow-up showed that 20% of patients had recurrent PHPT.
  
  
  CONCLUSIONS
  Given the high risk of malignancy and multiglandular involvement in our cohort, we recommend bilateral neck exploration and en bloc resection of parathyroid tumors suspicious for cancer and life-long postoperative follow-up.
authors.affiliation: Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; Geisel School of Medicine at Dartmouth, Hanover, NH.
authors.forename: Amit
authors.initials: A
authors.lastname: Mehta
authors.affiliation: Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Dhaval
authors.initials: D
authors.lastname: Patel
authors.affiliation: Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
authors.forename: Avi
authors.initials: A
authors.lastname: Rosenberg
authors.affiliation: Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Myriem
authors.initials: M
authors.lastname: Boufraqech
authors.affiliation: Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
authors.forename: Ryan J
authors.initials: RJ
authors.lastname: Ellis
authors.affiliation: Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Naris
authors.initials: N
authors.lastname: Nilubol
authors.affiliation: Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Martha M
authors.initials: MM
authors.lastname: Quezado
authors.affiliation: Metabolic Diseases Branch, National Institute of Digestive and Diabetes and Kidney Diseases, National Institutes of Health, Bethesda, MD.
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Marx
authors.affiliation: Metabolic Diseases Branch, National Institute of Digestive and Diabetes and Kidney Diseases, National Institutes of Health, Bethesda, MD.
authors.forename: William F
authors.initials: WF
authors.lastname: Simonds
authors.affiliation: Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD. Electronic address: kebebewe@mail.nih.gov.
authors.forename: Electron
authors.initials: E
authors.lastname: Kebebew
mesh_terms: D000236:Adenoma / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D000293:Adolescent; D000328:Adult; D002471:Cell Transformation, Neoplastic / Q000473:pathology; D015331:Cohort Studies; D005260:Female; D005350:Fibroma / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D007150:Immunohistochemistry; D007573:Jaw Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D008297:Male; D008875:Middle Aged; D008991:Monitoring, Physiologic; D010282:Parathyroid Neoplasms / Q000235:genetics* / Q000401:mortality / Q000473:pathology / Q000601:surgery*; D016105:Parathyroidectomy / Q000379:methods*; D010375:Pedigree; D011379:Prognosis; D035583:Rare Diseases; D012189:Retrospective Studies; D018709:Statistics, Nonparametric; D015996:Survival Rate; D016896:Treatment Outcome; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C454900:CDC73 protein, human; D025521:Tumor Suppressor Proteins