Sirbiladze Rowella Licup, Uyar Denise, Geurts Jennifer L, Shaker Joseph L
AACE Clin Case Rep. 2019 Apr 25;5(3):e222-e225. doi: 10.4158/ACCR-2018-0555. eCollection 2019 May-Jun.
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 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.
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 , , , and .
Genetic testing revealed a gene pathogenic variant (c.687_688dupAG) which creates a premature translational stop signal causing loss-of-function.
We report a case of ovarian GCT in a young patient with primary hyperparathyroidism and a gene mutation. Ovarian granulosa cell tumor may be another -related tumor.
报告1例甲状旁腺功能亢进-颌骨肿瘤综合征（HPT-JT）患者，该患者被发现患有罕见的卵巢肿瘤（颗粒细胞瘤[GCT]）。HPT-JT由该基因的致病变异引起，可导致原发性甲状旁腺功能亢进（PHPT）、良性纤维骨化性颌骨肿瘤、良性或恶性肾肿瘤及囊肿，以及良性或恶性子宫肿瘤。我们认为这是首例报道的HPT-JT合并GCT病例。
患者为一名31岁腹痛女性，被发现患有成人型GCT。她有显著病史，23岁时因PHPT接受了单腺甲状旁腺切除术。她的母亲也患有PHPT并接受了单腺切除，还有肾囊肿病史。由于有PHPT的个人和家族史，她接受了与PHPT相关基因的种系测序，包括、、、和。
基因检测发现一个基因致病变异（c.687_688dupAG），该变异产生一个过早的翻译终止信号，导致功能丧失。
我们报告1例患有原发性甲状旁腺功能亢进和基因突变的年轻患者发生卵巢GCT的病例。卵巢颗粒细胞瘤可能是另一种与相关的肿瘤。
