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46,XX 女性伴 Nijmegen 断裂综合征和促性腺激素性性腺功能减退症的双侧卵巢生殖细胞肿瘤。

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism.

机构信息

Medical University of Gdansk, Department of Pediatrics, Hematology and Oncology, Gdansk, Poland

Medical University of Gdańsk, The English Division Pediatric Oncology Scientific Circle, Gdańsk, Poland

出版信息

J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):251-257. doi: 10.4274/jcrpe.galenos.2021.2021.0151. Epub 2021 Sep 21.

DOI:10.4274/jcrpe.galenos.2021.2021.0151
PMID:34544220
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9176082/
Abstract

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin. It is caused by a defect in the gene, resulting in defective nibrin protein formation. This leads to chromosomal instability, which predisposes to cancer, with lymphoid malignancies predominating. Nibrin is also involved in gonadal development and its disfunction in females with frequently results in a pure gonadal dysgenesis (PGD) causing hypergonadotropic hypogonadism. However, only a few ovarian tumors in NBS patients have been reported to date. We describe the first case of a girl with with PGD, who developed metachronous bilateral ovarian germ cell tumors (dysgerminoma and gonadoblastoma). Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed.

摘要

尼曼匹克破碎综合征（NBS）是一种罕见的常染色体隐性疾病，主要影响斯拉夫人种的患者。它是由基因缺陷引起的，导致 nibrin 蛋白形成缺陷。这导致染色体不稳定，易患癌症，以淋巴恶性肿瘤为主。Nibrin 还参与性腺发育，其在女性中的功能障碍经常导致纯性腺发育不全（PGD），引起促性腺激素性性腺功能减退症。然而，迄今为止，仅报道了少数 NBS 患者的卵巢肿瘤病例。我们描述了首例具有 PGD 的女孩病例，她患有同期发生的双侧卵巢生殖细胞肿瘤（无性细胞瘤和卵黄囊瘤）。本文讨论了 PGD 的发病机制、NBS 女性的肿瘤转化和治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/32d2/9176082/123c71e013fe/JCRPE-14-251-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/32d2/9176082/a9d161436582/JCRPE-14-251-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/32d2/9176082/123c71e013fe/JCRPE-14-251-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/32d2/9176082/a9d161436582/JCRPE-14-251-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/32d2/9176082/123c71e013fe/JCRPE-14-251-g2.jpg

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1
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2
Germ Cell Tumors in Dysgenetic Gonads.发育不良性腺中的生殖细胞肿瘤。
Clinics (Sao Paulo). 2019 Nov 11;74:e408. doi: 10.6061/clinics/2019/e408. eCollection 2019.
3
Chromosome instability syndromes.染色体不稳定综合征。
Nat Rev Dis Primers. 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0.
4
A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management.一例尼曼匹克破碎综合征患者的卵巢早衰病例及文献复习。从基因突变到临床管理。
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5
Classic and "Dissecting" Gonadoblastoma in a Phenotypic Girl With a 46, XX Peripheral Karyotype and No Evidence of a Disorder of Sex Development.表型女性外周核型 46,XX，无性别发育障碍证据，具有经典型和“解剖型”卵睾细胞瘤。
Int J Gynecol Pathol. 2019 Nov;38(6):581-587. doi: 10.1097/PGP.0000000000000551.
6
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Eur J Hum Genet. 2018 Sep;26(9):1319-1328. doi: 10.1038/s41431-018-0140-4. Epub 2018 Apr 30.
7
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8
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J Clin Immunol. 2017 Feb;37(2):133-142. doi: 10.1007/s10875-016-0363-5. Epub 2016 Dec 21.
9
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10
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