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病例报告:普拉德-威利综合征中的普卢默腺瘤。

Case Report: Plummer's adenoma in Prader-Willi syndrome.

作者信息

Corica Domenico, Toscano Fabio, Moleti Mariacarla, Pepe Giorgia, Campenni Alfredo, Fadda Guido, Dionigi Gianlorenzo, Romeo Carmelo, Aversa Tommaso, Wasniewska Malgorzata

机构信息

Pediatric Unit, Department of Human Pathology of Adulthood and Childhood "G. Barresi", University of Messina, Messina, Italy.

Endocrinology Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

出版信息

Front Pediatr. 2024 Aug 8;12:1388437. doi: 10.3389/fped.2024.1388437. eCollection 2024.

DOI:10.3389/fped.2024.1388437
PMID:39175805
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11338776/
Abstract

Thyroid nodules in children are less common than in adults but they are approximately two- to three-fold more likely to be malignant in children. Among thyroid nodular diseases, Plummer's adenoma occurs very rarely in pediatrics, and currently, there is no literature providing evidence of this diagnosis in patients with Prader-Willi syndrome (PWS). We report the case of a 9-year-old Caucasian boy affected by PWS presenting with a rapidly growing palpable mass in the thyroid lodge associated with subclinical hyperthyroidism. Laboratory and other examinations (thyroid ultrasound, fine-needle aspiration of the nodule, and scintigraphy) were strongly suggestive for Plummer's adenoma; therefore, the patient underwent left hemithyroidectomy surgery, and anatomo-pathological examination confirmed the diagnosis. Our case describes the first evidence of an isolated follicular adenoma in children with PWS. Surgery is the only therapeutic option in younger children. Further evidence is needed to assess the possible correlation between these two conditions and the existence of potential risk factors.

摘要

儿童甲状腺结节比成人少见,但儿童甲状腺结节恶变的可能性约为成人的两到三倍。在甲状腺结节性疾病中,普卢默腺瘤在儿科极为罕见,目前尚无文献能证实普拉德-威利综合征(PWS)患者有此诊断。我们报告了一例9岁患有PWS的白种男孩病例,其甲状腺部位出现一个可触及的快速生长肿块,并伴有亚临床甲状腺功能亢进。实验室检查及其他检查(甲状腺超声、结节细针穿刺及闪烁扫描)强烈提示为普卢默腺瘤;因此,该患者接受了左半甲状腺切除术,解剖病理学检查确诊。我们的病例描述了PWS患儿孤立性滤泡性腺瘤的首个证据。手术是年幼儿童唯一的治疗选择。需要更多证据来评估这两种情况之间可能的关联以及潜在危险因素的存在。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b4c/11338776/b2ed1945f89a/fped-12-1388437-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b4c/11338776/2b0bb1371baf/fped-12-1388437-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b4c/11338776/988cc7168644/fped-12-1388437-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b4c/11338776/b2ed1945f89a/fped-12-1388437-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b4c/11338776/2b0bb1371baf/fped-12-1388437-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b4c/11338776/988cc7168644/fped-12-1388437-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b4c/11338776/b2ed1945f89a/fped-12-1388437-g003.jpg

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1
Case Report: Plummer's adenoma in Prader-Willi syndrome.病例报告:普拉德-威利综合征中的普卢默腺瘤。
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本文引用的文献

1
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.普拉德-威利综合征的内分泌特征:一项侧重于基因型-表型相关性的叙述性综述。
Front Endocrinol (Lausanne). 2024 Apr 26;15:1382583. doi: 10.3389/fendo.2024.1382583. eCollection 2024.
2
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation.基于登记资料和基因的普拉德-威利综合征研究显示,性腺肿瘤的发生率很高,且存在一种通过印记放松导致肿瘤发生的可能机制。
Front Med (Lausanne). 2023 Jul 28;10:1172565. doi: 10.3389/fmed.2023.1172565. eCollection 2023.
3
The EANM guideline on radioiodine therapy of benign thyroid disease.
欧洲核医学学会关于放射性碘治疗良性甲状腺疾病的指南。
Eur J Nucl Med Mol Imaging. 2023 Sep;50(11):3324-3348. doi: 10.1007/s00259-023-06274-5. Epub 2023 Jul 3.
4
Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review.普拉德-威利综合征中的恶性肿瘤:来自大型国际队列研究和文献回顾的结果。
J Clin Endocrinol Metab. 2023 Nov 17;108(12):e1720-e1730. doi: 10.1210/clinem/dgad312.
5
The Italian registry for patients with Prader-Willi syndrome.意大利普拉德-威利综合征患者登记处。
Orphanet J Rare Dis. 2023 Feb 15;18(1):28. doi: 10.1186/s13023-023-02633-5.
6
Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader-Willi syndrome.早期重组人生长激素治疗可改善普拉德-威利综合征婴儿和幼儿的精神发育,并缓解运动功能的恶化。
World J Pediatr. 2023 May;19(5):438-449. doi: 10.1007/s12519-022-00653-y. Epub 2022 Dec 24.
7
Cardiac rhabdomyoma as a possible new prenatal sonographic feature of Prader-Willi syndrome.心脏横纹肌瘤可能成为普拉德-威利综合征的一种新的产前超声特征。
J Obstet Gynaecol Res. 2022 Jan;48(1):239-243. doi: 10.1111/jog.15073. Epub 2021 Oct 16.
8
Thyroid Function in Adults with Prader-Willi Syndrome; a Cohort Study and Literature Review.普拉德-威利综合征成人患者的甲状腺功能;一项队列研究及文献综述
J Clin Med. 2021 Aug 25;10(17):3804. doi: 10.3390/jcm10173804.
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Orphanet J Rare Dis. 2021 Aug 3;16(1):337. doi: 10.1186/s13023-021-01952-9.
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Twenty Years of GH Treatment in Adults with Prader-Willi Syndrome.成人普拉德-威利综合征患者生长激素治疗二十年
J Clin Med. 2021 Jun 17;10(12):2667. doi: 10.3390/jcm10122667.