Fédération d'Endocrinologie du Pôle Est, Groupement Hospitalier Lyon Est, 69677, Bron, Cedex, France.
Orphanet J Rare Dis. 2011 Oct 24;6:67. doi: 10.1186/1750-1172-6-67.
Somatotropinoma, a pituitary adenoma characterised by excessive production of growth hormone (GH), is extremely rare in childhood. A genetic defect is evident in some cases; known genetic changes include: multiple endocrine neoplasia type 1 (MEN1); Carney complex; McCune-Albright syndrome; and, more recently identified, aryl hydrocarbon receptor-interacting protein (AIP). We describe seven children with somatotropinoma with a special focus on the differences between genetic and sporadic forms.
Seven children who presented in our regional network between 1992 and 2008 were included in this retrospective analysis. First-type therapy was somatostatin (SMS) analogues or transsphenoidal surgery. Control was defined as when insulin-like growth factor-1 (IGF-1) levels were within the normal range for the patient's age at 6 months after therapy, associated with decreasing tumour volume.
Patients were aged 5-17 years and the majority (n = 6) were male. Four patients had an identified genetic mutation (McCune-Albright syndrome: n = 1; MEN1: n = 1; AIP: n = 2); the remaining three cases were sporadic. Accelerated growth rate was reported as the first clinical sign in four patients. Five patients presented with macroadenoma; invasion was noted in four of them (sporadic: n = 1; genetic: n = 3). Six patients were treated with SMS analogues; normalisation of IGF-1 occurred in one patient who had a sporadic intrasellar macroadenoma. Multiple types of therapy were necessary in all patients with an identified genetic mutation (4 types: n = 1; 3 types: n = 2; 2 types: n = 1), whereas two of the three patients with sporadic somatotropinoma required only one type of therapy.
This is the first series that analyzes the therapeutic response of somatotropinoma in paediatric patients with identified genetic defects. We found that, in children, genetic somatotropinomas are more invasive than sporadic somatotropinomas. Furthermore, SMS analogues appear to be less effective for treating genetic somatotropinoma than sporadic somatotropinoma.
生长激素腺瘤是一种由生长激素（GH）过度分泌引起的垂体腺瘤，在儿童中极为罕见。在某些情况下存在遗传缺陷；已知的遗传变化包括：多发性内分泌肿瘤 1 型（MEN1）；卡尼复合征；McCune-Albright 综合征；以及最近发现的芳烃受体相互作用蛋白（AIP）。我们描述了 7 例生长激素腺瘤患儿，特别关注遗传和散发性肿瘤之间的差异。
对 1992 年至 2008 年期间在我们的区域网络中就诊的 7 名患儿进行了回顾性分析。一线治疗是生长抑素（SMS）类似物或经蝶窦手术。控制定义为治疗后 6 个月 IGF-1 水平恢复到患者年龄的正常范围，同时肿瘤体积减小。
患儿年龄 5-17 岁，多数为男性（n=6）。4 例患儿存在明确的基因突变（McCune-Albright 综合征：n=1；MEN1：n=1；AIP：n=2）；其余 3 例为散发性。4 例患儿报告生长速度加快为首发临床症状。5 例患儿为大腺瘤；其中 4 例（散发性：n=1；遗传：n=3）有侵袭性。6 例患儿接受 SMS 类似物治疗；1 例散发性鞍内大腺瘤患者 IGF-1 正常化。所有存在明确基因突变的患儿均需要多种类型的治疗（4 种：n=1；3 种：n=2；2 种：n=1），而 3 例散发性生长激素腺瘤患儿中有 2 例仅需一种类型的治疗。
这是首个分析儿童生长激素腺瘤伴明确遗传缺陷的患儿治疗反应的系列研究。我们发现，在儿童中，遗传型生长激素腺瘤比散发性生长激素腺瘤更具侵袭性。此外，SMS 类似物治疗遗传型生长激素腺瘤的效果似乎不如散发性生长激素腺瘤。
