OBJECTIVE: To report a patient with the hyperparathyroidism-jaw tumor syndrome (HPT-JT) who was found to have a rare ovarian tumor (granulosa cell tumor [GCT]). HPT-JT is caused by pathogenic variants in the CDC73 gene and results in primary hyperparathyroidism (PHPT), benign fibro-osseous jaw tumors, benign or malignant renal tumors and cysts, and benign or malignant uterine tumors. We believe this is the first reported case of HPT-JT and GCT. METHODS: The patient was a 31-year-old woman with abdominal pain who was found to have adult GCT. Her history was significant for a single gland parathyroidectomy at age 23 for PHPT. Her mother also had PHPT with 1-gland removal, as well as a history of renal cysts. Because of the personal and familial history of PHPT, she underwent germline sequencing of genes associated with PHPT including CASR, CDC73, CDKN1B, MEN1 and RET. RESULTS: Genetic testing revealed a CDC73 gene pathogenic variant (c.687_688dupAG) which creates a premature translational stop signal causing loss-of-function. CONCLUSION: We report a case of ovarian GCT in a young patient with primary hyperparathyroidism and a CDC73 gene mutation. Ovarian granulosa cell tumor may be another CDC73-related tumor.
OBJECTIVE: To report a patient with the hyperparathyroidism-jaw tumor syndrome (HPT-JT) who was found to have a rare ovarian tumor (granulosa cell tumor [GCT]). HPT-JT is caused by pathogenic variants in the CDC73 gene and results in primary hyperparathyroidism (PHPT), benign fibro-osseous jaw tumors, benign or malignant renal tumors and cysts, and benign or malignant uterine tumors. We believe this is the first reported case of HPT-JT and GCT. METHODS: The patient was a 31-year-old woman with abdominal pain who was found to have adult GCT. Her history was significant for a single gland parathyroidectomy at age 23 for PHPT. Her mother also had PHPT with 1-gland removal, as well as a history of renal cysts. Because of the personal and familial history of PHPT, she underwent germline sequencing of genes associated with PHPT including CASR, CDC73, CDKN1B, MEN1 and RET. RESULTS: Genetic testing revealed a CDC73 gene pathogenic variant (c.687_688dupAG) which creates a premature translational stop signal causing loss-of-function. CONCLUSION: We report a case of ovarian GCT in a young patient with primary hyperparathyroidism and a CDC73 gene mutation. Ovarian granulosa cell tumor may be another CDC73-related tumor.
Authors: Sohrab P Shah; Martin Köbel; Janine Senz; Ryan D Morin; Blaise A Clarke; Kimberly C Wiegand; Gillian Leung; Abdalnasser Zayed; Erika Mehl; Steve E Kalloger; Mark Sun; Ryan Giuliany; Erika Yorida; Steven Jones; Richard Varhol; Kenneth D Swenerton; Dianne Miller; Philip B Clement; Colleen Crane; Jason Madore; Diane Provencher; Peter Leung; Anna DeFazio; Jaswinder Khattra; Gulisa Turashvili; Yongjun Zhao; Thomas Zeng; J N Mark Glover; Barbara Vanderhyden; Chengquan Zhao; Christine A Parkinson; Mercedes Jimenez-Linan; David D L Bowtell; Anne-Marie Mes-Masson; James D Brenton; Samuel A Aparicio; Niki Boyd; Martin Hirst; C Blake Gilks; Marco Marra; David G Huntsman Journal: N Engl J Med Date: 2009-06-10 Impact factor: 91.245
Authors: J D Carpten; C M Robbins; A Villablanca; L Forsberg; S Presciuttini; J Bailey-Wilson; W F Simonds; E M Gillanders; A M Kennedy; J D Chen; S K Agarwal; R Sood; M P Jones; T Y Moses; C Haven; D Petillo; P D Leotlela; B Harding; D Cameron; A A Pannett; A Höög; H Heath; L A James-Newton; B Robinson; R J Zarbo; B M Cavaco; W Wassif; N D Perrier; I B Rosen; U Kristoffersson; P D Turnpenny; L-O Farnebo; G M Besser; C E Jackson; H Morreau; J M Trent; R V Thakker; S J Marx; B T Teh; C Larsson; M R Hobbs Journal: Nat Genet Date: 2002-11-18 Impact factor: 38.330
Authors: B T Teh; F Farnebo; U Kristoffersson; B Sundelin; J Cardinal; R Axelson; A Yap; M Epstein; H Heath; D Cameron; C Larsson Journal: J Clin Endocrinol Metab Date: 1996-12 Impact factor: 5.958