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卡波西样血管内皮瘤与毛细血管畸形并存:仅是巧合?两例病例报告。

Coexistence of kaposiform hemangioendothelioma and capillary malformation: More than a coincidence? Two case reports.

作者信息

Gong Xue, Zhou Jiangyuan, Chen Siyuan, Ji Yi

机构信息

Division of Oncology, Department of Pediatric Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

Pediatric Intensive Care Unit, Department of Critical Care Medicine, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

出版信息

Heliyon. 2024 Mar 29;10(7):e28802. doi: 10.1016/j.heliyon.2024.e28802. eCollection 2024 Apr 15.

DOI:10.1016/j.heliyon.2024.e28802
PMID:38576567
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10990900/
Abstract

The coexistence of kaposiform hemangioendothelioma (KHE) and capillary malformation (CM) is quite rare, and few relevant studies can be found to confirm whether this phenomenon is accidental. We diagnosed and treated two such patients, revealing interesting phenomena associated with the development of vascular diseases. These cases offer the possibility that the coexistence of KHE and CM is not accidental and open up a new field of research related to pediatric vascular tumors and vascular malformations. Personalization and precision are required in the diagnosis and treatment of such patients, and the present findings provide a reliable theoretical and practical basis for further research on the pathogenesis and therapy of patients with multiple vascular diseases.

摘要

卡波西样血管内皮瘤(KHE)与毛细血管畸形(CM)并存的情况相当罕见,很少有相关研究能证实这种现象是否偶然。我们诊断并治疗了两名此类患者,发现了与血管疾病发展相关的有趣现象。这些病例提示KHE与CM并存并非偶然,为小儿血管肿瘤和血管畸形相关的新研究领域开辟了道路。对此类患者的诊断和治疗需要个性化和精准化,目前的研究结果为进一步研究多种血管疾病患者的发病机制和治疗提供了可靠的理论和实践基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0fa/10990900/3e2c19e469d0/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0fa/10990900/d2d9bb4eab56/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0fa/10990900/ec584d47d1fd/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0fa/10990900/dfa1d5dedfac/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0fa/10990900/3e2c19e469d0/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0fa/10990900/d2d9bb4eab56/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0fa/10990900/ec584d47d1fd/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0fa/10990900/dfa1d5dedfac/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0fa/10990900/3e2c19e469d0/gr4.jpg

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本文引用的文献

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Long-term outcomes of sirolimus treatment for kaposiform hemangioendothelioma: Continuing successes and ongoing challenges.西罗莫司治疗卡波西样血管内皮瘤的长期疗效:持续成功与持续挑战。
Int J Cancer. 2023 Aug 1;153(3):600-608. doi: 10.1002/ijc.34509. Epub 2023 Mar 22.
2
Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.AKT3 中的镶嵌性致病变体导致毛细血管畸形和发育不良。
Am J Med Genet A. 2023 May;191(5):1442-1446. doi: 10.1002/ajmg.a.63121. Epub 2023 Jan 25.
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Pathogenesis of Port-Wine Stains: Directions for Future Therapies.
葡萄酒色斑的发病机制:未来治疗的方向。
Int J Mol Sci. 2022 Oct 12;23(20):12139. doi: 10.3390/ijms232012139.
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Infantile hepatic hemangiomas: looking backwards and forwards.婴儿肝血管瘤:回顾与展望
Precis Clin Med. 2022 Feb 11;5(1):pbac006. doi: 10.1093/pcmedi/pbac006. eCollection 2022 Mar.
5
A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.GNAQ 基因中的一种新的体细胞突变可深入了解毛细血管畸形的分子发病机制。
Angiogenesis. 2022 Nov;25(4):493-502. doi: 10.1007/s10456-022-09841-w. Epub 2022 May 30.
6
Sirolimus plus prednisolone vs sirolimus monotherapy for kaposiform hemangioendothelioma: a randomized clinical trial.西罗莫司联合泼尼松龙与西罗莫司单药治疗卡波西样血管内皮瘤的随机临床试验
Blood. 2022 Mar 17;139(11):1619-1630. doi: 10.1182/blood.2021014027.
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Infantile hemangioma. Part 1: Epidemiology, pathogenesis, clinical presentation and assessment.婴儿血管瘤。第 1 部分:流行病学、发病机制、临床表现和评估。
J Am Acad Dermatol. 2021 Dec;85(6):1379-1392. doi: 10.1016/j.jaad.2021.08.019. Epub 2021 Aug 19.
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Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum.卡波西样血管内皮细胞瘤进一步拓宽了 PIK3CA 相关过度生长谱的表型。
Clin Genet. 2021 Nov;100(5):624-627. doi: 10.1111/cge.14047. Epub 2021 Aug 23.
9
Genetic Basis and Therapies for Vascular Anomalies.血管异常的遗传基础与治疗。
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J Vasc Surg. 2021 Nov;74(5):1673-1681.e3. doi: 10.1016/j.jvs.2021.04.071. Epub 2021 May 31.