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胎儿颈部淋巴管瘤伴PIK3CA相关过度生长谱系（PROS）：一例报告

Lymphangioma of the fetal neck within the PIK3CA-related-overgrowth spectrum (PROS): A case report.

作者信息

Scharf Jann Lennard, Gembicki Michael, Dracopoulos Christoph, Hellenbroich Yorck, Offermann Anne, Stichtenoth Guido, Tafazzoli-Lari Kianusch, Tharun Lars, Weichert Jan

机构信息

Department of Gynecology and Obstetrics University Hospital Schleswig-Holstein, Campus Lübeck Lübeck Germany.

Department of Prenatal Medicine and Gynecological Ultrasound University Hospital Schleswig-Holstein, Campus Lübeck Lübeck Germany.

出版信息

Clin Case Rep. 2021 Jul 21;9(7):e04527. doi: 10.1002/ccr3.4527. eCollection 2021 Jul.

DOI:10.1002/ccr3.4527
PMID:34306701
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8294145/
Abstract

The delineation of the prenatal diagnostic key features of PIK3CA-related overgrowth spectrum disorders will assume a crucial part in future and a prenatal diagnosis of the causing mutations would provide physicians with a simplified interdisciplinary perinatal management.

摘要

PIK3CA相关过度生长谱系障碍产前诊断关键特征的界定在未来将发挥关键作用，对致病突变进行产前诊断将为医生提供简化的跨学科围产期管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7889/8294145/b7bda6545b1d/CCR3-9-e04527-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7889/8294145/63a958aad3c3/CCR3-9-e04527-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7889/8294145/d075978bfedd/CCR3-9-e04527-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7889/8294145/b7bda6545b1d/CCR3-9-e04527-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7889/8294145/63a958aad3c3/CCR3-9-e04527-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7889/8294145/d075978bfedd/CCR3-9-e04527-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7889/8294145/b7bda6545b1d/CCR3-9-e04527-g002.jpg

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Angiogenesis. 2020 Aug;23(3):425-442. doi: 10.1007/s10456-020-09722-0. Epub 2020 Apr 30.
2
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.下一代测序技术在体细胞核型嵌合体障碍诊断中的应用：一项为期五年的累积队列研究。
Am J Hum Genet. 2019 Oct 3;105(4):734-746. doi: 10.1016/j.ajhg.2019.09.002.
3
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
PIK3CA相关过度生长谱系的新特征：来自一例新发胚系PIK3CA突变流产胎儿的经验教训
Eur J Med Genet. 2020 Apr;63(4):103775. doi: 10.1016/j.ejmg.2019.103775. Epub 2019 Sep 27.
4
Somatic activating mutations in cause generalized lymphatic anomaly.在 中发现的体激活突变导致全身淋巴异常。
J Exp Med. 2019 Feb 4;216(2):407-418. doi: 10.1084/jem.20181353. Epub 2018 Dec 27.
5
Cancer-Associated PIK3CA Mutations in Overgrowth Disorders.肿瘤相关 PIK3CA 突变与过度生长疾病。
Trends Mol Med. 2018 Oct;24(10):856-870. doi: 10.1016/j.molmed.2018.08.003. Epub 2018 Sep 6.
6
The use of sirolimus in the treatment of giant cystic lymphangioma: Four case reports and update of medical therapy.西罗莫司在巨大囊性淋巴管瘤治疗中的应用：4例病例报告及药物治疗进展
Medicine (Baltimore). 2017 Dec;96(51):e8871. doi: 10.1097/MD.0000000000008871.
7
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Otolaryngol Clin North Am. 2018 Feb;51(1):1-39. doi: 10.1016/j.otc.2017.09.020.
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J Pediatr. 2015 Apr;166(4):1048-54.e1-5. doi: 10.1016/j.jpeds.2014.12.069. Epub 2015 Feb 11.
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