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儿童生长激素腺瘤的临床特征和治疗:一例新 AIP 突变致侵袭性肿瘤的病例研究及广泛文献复习。

Clinical features and treatment of pediatric somatotropinoma: case study of an aggressive tumor due to a new AIP mutation and extensive literature review.

机构信息

Paediatric Endocrinology and Gynaecology Unit, Hôpital Necker-Enfants Malades, Paris, France.

出版信息

Horm Res Paediatr. 2011;75(6):392-402. doi: 10.1159/000327831. Epub 2011 May 6.

Abstract

CONTEXT

Pediatric somatotropinoma is uncommon but usually more aggressive than in adults, creating therapeutic challenges. No treatment guidelines are available.

OBJECTIVES

To describe the features of pediatric somatotropinomas and to assess therapeutic strategies based on an extensive literature review.

DESIGN

We describe a pediatric case of aggressive somatotropinoma with an AIP mutation. We identified 137 pediatric somatotropinoma cases published between 1981 and 2010, and found 41 cases with AIP mutations in the main review.

RESULTS

We found a slight male preponderance (59%). Median age was 9 years at symptom onset and 14 years at diagnosis. Macroadenomas accounted for 90% of the tumors; 2/3 of the children had hyperprolactinemia at diagnosis. The first-line treatment was pharmacotherapy in one third and surgery in 2/3 of the patients. Pegvisomant was used in 7 patients and produced significant improvement in 4. The male preponderance was higher in the subgroup with AIP mutations. Mutations leading to severe protein abnormalities were more common than reported in adults.

CONCLUSION

Higher invasiveness and tumor volume in pediatric somatotropinomas require complex treatment combinations, which produce variable results. Pegvisomant is an effective drug whose usefulness in children remains to be determined. Genetic screening, particularly for AIP mutations, should be performed routinely.

摘要

背景

儿童生长激素腺瘤不常见,但通常比成人更具侵袭性,这给治疗带来了挑战。目前尚无治疗指南。

目的

描述儿童生长激素腺瘤的特征,并基于广泛的文献回顾评估治疗策略。

设计

我们描述了一例具有 AIP 突变的侵袭性儿童生长激素腺瘤病例。我们在 1981 年至 2010 年间共确定了 137 例儿童生长激素腺瘤病例,并在主要综述中发现了 41 例 AIP 突变病例。

结果

我们发现轻微的男性优势(59%)。症状发作时的中位年龄为 9 岁,诊断时为 14 岁。大腺瘤占肿瘤的 90%;2/3 的患儿在诊断时存在高泌乳素血症。三分之一的患儿采用药物治疗作为一线治疗,三分之二的患儿采用手术治疗。7 例患儿使用了培维索孟,其中 4 例有显著改善。在有 AIP 突变的亚组中,男性优势更高。导致严重蛋白异常的突变比在成人中报道的更常见。

结论

儿童生长激素腺瘤的侵袭性和肿瘤体积更高,需要复杂的治疗组合,治疗结果也各不相同。培维索孟是一种有效的药物,但其在儿童中的应用效果仍有待确定。应常规进行遗传筛查,特别是 AIP 突变筛查。

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