PROS的诊断和治疗共识(pik3ca相关过度生长谱)。俄罗斯版

Q4 Medicine

Russian Journal of Pediatric Hematology and Oncology Pub Date : 2023-07-19 DOI:10.21682/2311-1267-2023-10-2-117-123

G. B. Sagoyan, N. Zhukov, V. Strelnikov, R. Khagurov, A. M. Suleymanova, Yu. M. Mareeva, R. V. Garbuzov, E. Imyanitov, Y. Dinikina, S. Kutsev, E. Donyush, K. Kirgizov, N. Semenova, Y. Polyaev, I. Kletskaya, A. Maschan, S. Varfolomeeva

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引用次数: 0

摘要

PROS (PIK3CA相关过度生长谱)包括由激活PIK3CA基因的体细胞突变引起的血管畸形、脂肪瘤病和其他多种先天性异常。PROS包括大趾畸形、半巨脑畸形、肌肉半肥厚、面部浸润性脂肪瘤病CLOVES、巨脑畸形、血管畸形(毛细血管、静脉、淋巴、动静脉和联合血管畸形)、皮肤疾病、表皮痣等。俄罗斯儿科外科医生协会和俄罗斯医学遗传学家协会制定了诊断和治疗PROS的共识声明。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Consensus on the diagnosis and treatment of PROS (PIK3CA-related overgrowth spectrum). Russian version

PROS (PIK3CA-Related Overgrowth Spectrum) encompasses vascular malformations, lipomatosis and other multiple congenital anomalies resulting from activating somatic mutations in the PIK3CA gene. PROS includes macrodactyly, hemimegalencephaly, muscle hemihypertrophy, facial infiltrating lipomatosis CLOVES, megalencephaly, vascular malformations (capillary, venous, lymphatic, arteriovenous and combined vascular malformations), skin disorders, epidermal nevi, etc.The experts of the Russian Society of Pediatric Oncologists and Hematologists, Russian Association of Pediatric Surgeons and Russian Society of Medical Geneticists developed this consensus statement of diagnostics and treatment of PROS.

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来源期刊

Russian Journal of Pediatric Hematology and Oncology Medicine-Pediatrics, Perinatology and Child Health

CiteScore

0.40

自引率

0.00%

发文量