PDF(Pubmed)
Abstract：
UNASSIGNED: Our objective was to describe the clinical course and treatment challenges in a very young patient with a pituitary adenoma due to a novel aryl hydrocarbon receptor-interacting protein (AIP) gene mutation, highlighting the limitations of somatostatin receptor immunohistochemistry to predict clinical responses to somatostatin analogs in acromegaly.
UNASSIGNED: We report the case of a 7-year-old boy presenting with headache, visual field defects, and accelerated growth following failure to thrive. The laboratory results showed high insulin-like growth factor I (IGF-I) (standardised deviation scores ( +3.49) and prolactin levels (0.5 nmol/L), and magnetic resonance imaging identified a pituitary macroadenoma. Tumoral/hormonal control could not be achieved despite 3 neurosurgical procedures, each time with apparent total resection or with lanreotide or pasireotide. IGF-I levels decreased with the GH receptor antagonist pegvisomant. The loss of somatostatin receptor 5 was observed between the second and third tumor resection. In vitro, no effect on tumoral GH release by pasireotide (with/without cabergoline) was observed. Genetic analysis revealed a novel germline AIP mutation: p.Tyr202∗ (pathogenic; class 4).
UNASSIGNED: In vitro response of tumor tissue to somatostatin may better predict tumoral in vivo responses of somatostatin analogs than somatostatin receptor immunohistochemistry.
UNASSIGNED: We identified a novel pathologic AIP mutation that was associated with incipient acrogigantism in an extremely young patient who had a complicated course of disease. Growth acceleration can be masked due to failure to thrive. Tumoral growth hormone release in vivo may be predicted with in vitro exposure to somatostatin receptor analogs, as it cannot be assumed that all AIP-mutated somatotropinomas respond well to pasireotide.
UNASSIGNED: We report the case of a 7-year-old boy presenting with headache, visual field defects, and accelerated growth following failure to thrive. The laboratory results showed high insulin-like growth factor I (IGF-I) (standardised deviation scores ( +3.49) and prolactin levels (0.5 nmol/L), and magnetic resonance imaging identified a pituitary macroadenoma. Tumoral/hormonal control could not be achieved despite 3 neurosurgical procedures, each time with apparent total resection or with lanreotide or pasireotide. IGF-I levels decreased with the GH receptor antagonist pegvisomant. The loss of somatostatin receptor 5 was observed between the second and third tumor resection. In vitro, no effect on tumoral GH release by pasireotide (with/without cabergoline) was observed. Genetic analysis revealed a novel germline AIP mutation: p.Tyr202∗ (pathogenic; class 4).
UNASSIGNED: In vitro response of tumor tissue to somatostatin may better predict tumoral in vivo responses of somatostatin analogs than somatostatin receptor immunohistochemistry.
UNASSIGNED: We identified a novel pathologic AIP mutation that was associated with incipient acrogigantism in an extremely young patient who had a complicated course of disease. Growth acceleration can be masked due to failure to thrive. Tumoral growth hormone release in vivo may be predicted with in vitro exposure to somatostatin receptor analogs, as it cannot be assumed that all AIP-mutated somatotropinomas respond well to pasireotide.
摘要：
UNASSIGNED：我们的目标是描述一个非常年轻的垂体腺瘤患者的临床过程和治疗挑战，因为一个新的芳基烃受体相互作用蛋白（AIP）基因突变，强调生长抑素受体免疫组织化学预测肢端肥大症对生长抑素类似物的临床反应的局限性。
未经授权：我们报告了一个7岁男孩头痛的病例，视野缺陷,在未能茁壮成长之后加速增长。实验室结果显示高胰岛素样生长因子I（IGF-I）（标准化偏差评分（3.49）和催乳素水平（0.5nmol/L），磁共振成像确定了垂体大腺瘤。尽管进行了3次神经外科手术，但仍无法实现肿瘤/激素控制。每次明显全切除或兰瑞肽或帕瑞肽。GH受体拮抗剂pegvisomant降低IGF-I水平。在第二次和第三次肿瘤切除之间观察到生长抑素受体5的丢失。体外，没有观察到帕瑞肽（有/没有卡麦角林）对肿瘤GH释放的影响。遗传分析揭示了一种新的种系AIP突变：p.Tyr202*（致病性；4类）。
UNASSIGNED：肿瘤组织对生长抑素的体外反应可能比生长抑素受体免疫组织化学更好地预测生长抑素类似物的肿瘤体内反应。
UNASSIGNED：我们发现了一种新的病理性AIP突变，该突变与一名患有复杂病程的极年轻患者的早期肢端畸形有关。由于未能茁壮成长，增长加速可能会被掩盖。通过体外暴露于生长抑素受体类似物，可以预测体内肿瘤生长激素的释放。因为不能假设所有AIP突变的生长激素瘤对帕瑞肽反应良好。
未经授权：我们报告了一个7岁男孩头痛的病例，视野缺陷,在未能茁壮成长之后加速增长。实验室结果显示高胰岛素样生长因子I（IGF-I）（标准化偏差评分（3.49）和催乳素水平（0.5nmol/L），磁共振成像确定了垂体大腺瘤。尽管进行了3次神经外科手术，但仍无法实现肿瘤/激素控制。每次明显全切除或兰瑞肽或帕瑞肽。GH受体拮抗剂pegvisomant降低IGF-I水平。在第二次和第三次肿瘤切除之间观察到生长抑素受体5的丢失。体外，没有观察到帕瑞肽（有/没有卡麦角林）对肿瘤GH释放的影响。遗传分析揭示了一种新的种系AIP突变：p.Tyr202*（致病性；4类）。
UNASSIGNED：肿瘤组织对生长抑素的体外反应可能比生长抑素受体免疫组织化学更好地预测生长抑素类似物的肿瘤体内反应。
UNASSIGNED：我们发现了一种新的病理性AIP突变，该突变与一名患有复杂病程的极年轻患者的早期肢端畸形有关。由于未能茁壮成长，增长加速可能会被掩盖。通过体外暴露于生长抑素受体类似物，可以预测体内肿瘤生长激素的释放。因为不能假设所有AIP突变的生长激素瘤对帕瑞肽反应良好。
