广泛囊性淋巴畸形伴pik3ca相关过度生长谱:3例胎儿的产前诊断和尸检结果

IF 0.7 4区 医学 Q4 PATHOLOGY
M Sarreau, F Pelluard, S Martin Berenguer, F Sauvestre, F Coatleven, F Cardinaud, L Guibaud, S Collardeau Frachon
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引用次数: 0

摘要

目的:描述并探讨与PIK3CA突变相关的广泛囊性淋巴畸形(CLM)的产前影像学和终止后病理特征。方法:我们回顾了3例在妊娠中期诊断的涉及下肢延伸到身体的广泛CLM的产前影像学和病理特征,并根据该血管畸形的解剖延伸进行了终止。结果:3例患者均有严重不对称肢体软组织肥厚伴四肢异常,并有囊性软组织浸润向全身延伸,未见脑异常。TOP后进行的胎儿病理检查证实了产前特征,提示pro。受影响组织的分子分析显示,在所有病例中,PIK3CA基因的激活体细胞突变。结论:这样的产前诊断对产前咨询至关重要,有希望进行针对性治疗,引导夫妇定向。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Extensive Cystic lymphatic malformation with PIK3CA-Related Overgrowth Spectrum: Prenatal Diagnosis and Autopsy Findings in 3 Fetal Cases.

Objective: To describe and discuss prenatal imaging and post-termination pathological features of extensive cystic lymphatic malformation (CLM) associated with PIK3CA mutation of PROS.

Methods: We reviewed prenatal imaging and pathological features of three cases of extensive CLM involving the inferior limb extending on the body diagnosed in the second trimester, which were terminated based on the anatomical extension of this vascular malformation.

Results: Major asymmetrical soft tissue limb hypertrophy associated with extremities anomalies as well as cystic soft tissue infiltration extending to the body were present in the three cases without any cerebral anomalies. Foetopathological examination performed after TOP confirmed prenatal features, which were suggestive of PROS. Molecular analysis of affected tissues revealed an activating somatic mutation of the PIK3CA gene in all cases.

Conclusion: Such prenatal diagnosis is crucial for prenatal counseling in the light of promising targeted therapy leading to orientate the couple.

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来源期刊
CiteScore
3.00
自引率
0.00%
发文量
68
审稿时长
6-12 weeks
期刊介绍: Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports. The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.
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