Marks Brynn E, Sugrue Ronan, Bourgeois Wallace, Frazier A Lindsay, Voss Stephan D, Laufer Marc R, Gordon Catherine M, Cohen Laurie E
Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.
Division of Endocrinology, Children's National Hospital, Washington, DC, USA.
J Endocr Soc. 2021 Jul 8;5(9):bvab098. doi: 10.1210/jendso/bvab098. eCollection 2021 Sep 1.
mutations have been reported in both McCune-Albright syndrome (MAS) and juvenile granulosa cell tumors (JGCT) but have never been reported simultaneously in the same patient.
A 15-year-old girl developed secondary oligomenorrhea. Laboratory studies revealed suppressed gonadotropin levels with markedly elevated estradiol and inhibin B levels. Pelvic ultrasound showed a 12-cm heterogeneous right adnexal mass; pelvic magnetic resonance imaging to further characterize the mass displayed heterogeneous bilateral femoral bone lesions initially concerning for metastatic disease. Positron emission tomography/computed tomography showed minimal F-fluorodeoxyglucose (FDG) uptake in the pelvic mass but unexpectedly revealed FDG uptake throughout the skeleton, concerning for polyostotic fibrous dysplasia in the context of MAS. The adnexal mass was excised and pathology confirmed a JGCT. The patient's affected bone and JGCT tissue revealed the same pathogenic p.R201C mutation, while her peripheral blood contained wild-type arginine at codon 201.
This mutation has been previously reported in cases of MAS and JGCT but never simultaneously in the same patient. This demonstration of a mutation underlying both JGCT and MAS in the same patient raises questions about appropriate surveillance for patients with these conditions.
已有报道称在McCune-Albright综合征（MAS）和青少年颗粒细胞瘤（JGCT）中均存在突变，但从未有过在同一患者中同时出现这两种突变的报道。
一名15岁女孩出现继发性月经过少。实验室检查显示促性腺激素水平受到抑制，而雌二醇和抑制素B水平显著升高。盆腔超声显示右侧附件有一个12厘米的不均匀肿块；盆腔磁共振成像进一步对该肿块进行特征描述，显示双侧股骨有不均匀病变，最初怀疑为转移性疾病。正电子发射断层扫描/计算机断层扫描显示盆腔肿块中氟脱氧葡萄糖（FDG）摄取极少，但意外发现整个骨骼均有FDG摄取，考虑为MAS背景下的多骨纤维发育不良。切除附件肿块，病理证实为JGCT。患者受影响的骨骼和JGCT组织显示相同的致病p.R201C突变，而其外周血在第201密码子处含有野生型精氨酸。
此前已在MAS和JGCT病例中报道过这种突变，但从未在同一患者中同时出现。同一患者中JGCT和MAS均存在这种突变的情况引发了对于这些疾病患者适当监测的疑问。
