芳香化酶抑制剂在大细胞钙化性支持细胞肿瘤中的应用：对男性乳房发育、生长速度和骨龄的影响。
Use of aromatase inhibitors in large cell calcifying sertoli cell tumors: effects on gynecomastia, growth velocity, and bone age.
作者信息
Crocker Melissa K, Gourgari Evgenia, Lodish Maya, Stratakis Constantine A
机构信息
Section on Endocrinology and Genetics (M.K.C., E.G., M.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institutes of Child Health and Human Development, National Institute of Health, Bethesda, Maryland 20892; Division of Endocrinology (M.K.C.), Boston Children's Hospital, Boston, Massachusetts 02115; and Division of Pediatric Endocrinology (E.G.), Georgetown University, Washington, D.C. 20007.
出版信息
J Clin Endocrinol Metab. 2014 Dec;99(12):E2673-80. doi: 10.1210/jc.2014-2530.
CONTEXT
Large cell calcifying Sertoli cell tumors (LCCSCT) present in isolation or, especially in children, in association with Carney Complex (CNC) or Peutz-Jeghers Syndrome (PJS). These tumors overexpress aromatase (CYP19A1), which leads to increased conversion of delta-4-androstenedione to estrone and testosterone to estradiol. Prepubertal boys may present with growth acceleration, advanced bone age, and gynecomastia.
OBJECTIVE
To investigate the outcomes of aromatase inhibitor therapy (AIT) in prepubertal boys with LCCSCTs.
DESIGN
Case series of a very rare tumor and chart review of cases treated at other institutions.
SETTING
Tertiary care and referral center.
PATIENTS
Six boys, five with PJS and one with CNC, were referred to the National Institutes of Health for treatment of LCCSCT. All patients had gynecomastia, testicular enlargement, and advanced bone ages, and were being treated by their referring physicians with AIT.
INTERVENTIONS
Patients were treated for a total of 6-60 months on AIT.
MAIN OUTCOME MEASURES
Height, breast tissue mass, and testicular size were all followed; physical examination, scrotal ultrasounds, and bone ages were obtained, and hormonal concentrations and tumor markers were measured.
RESULTS
Tumor markers were negative. All patients had decreases in breast tissue while on therapy. Height percentiles declined, and predicted adult height moved closer to midparental height as bone age advancement slowed. Testicular enlargement stabilized until entry into central puberty. Only one patient required unilateral orchiectomy.
CONCLUSIONS
Patients with LCCSCT benefit from AIT with reduction and/or elimination of gynecomastia and slowing of linear growth and bone age advancement. Further study of long-term outcomes and safety monitoring are needed but these preliminary data suggest that mammoplasty and/or orchiectomy may be foregone in light of the availability of medical therapy.
背景
大细胞钙化性支持细胞瘤（LCCSCT）可单独出现，尤其是在儿童中，与卡尼综合征（CNC）或黑斑息肉综合征（PJS）相关。这些肿瘤过度表达芳香化酶（CYP19A1），导致δ-4-雄烯二酮向雌酮以及睾酮向雌二醇的转化增加。青春期前男孩可能出现生长加速、骨龄提前和乳腺增生。
目的
研究芳香化酶抑制剂治疗（AIT）青春期前患有LCCSCT的男孩的疗效。
设计
一种非常罕见肿瘤的病例系列以及对其他机构治疗病例的病历回顾。
地点
三级医疗和转诊中心。
患者
六名男孩，五名患有PJS，一名患有CNC，因LCCSCT被转诊至美国国立卫生研究院接受治疗。所有患者均有乳腺增生、睾丸肿大和骨龄提前，且其转诊医生正在用AIT对他们进行治疗。
干预措施
患者接受AIT治疗的总时长为6至60个月。
主要观察指标
对身高、乳腺组织量和睾丸大小进行全程监测；进行体格检查、阴囊超声检查并测定骨龄，同时检测激素浓度和肿瘤标志物。
结果
肿瘤标志物呈阴性。所有患者在治疗期间乳腺组织均减少。身高百分位数下降，随着骨龄进展放缓，预测成年身高更接近父母身高的中位数。睾丸肿大在进入中枢性青春期前保持稳定。只有一名患者需要进行单侧睾丸切除术。
结论
LCCSCT患者受益于AIT，乳腺增生减少和/或消除，线性生长和骨龄进展放缓。需要进一步研究长期疗效和安全性监测，但这些初步数据表明，鉴于有药物治疗可用，乳房成形术和/或睾丸切除术可能无需进行。
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