M Sarreau, F Pelluard, S Martin Berenguer, F Sauvestre, F Coatleven, F Cardinaud, L Guibaud, S Collardeau Frachon
{"title":"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","authors":"M Sarreau, F Pelluard, S Martin Berenguer, F Sauvestre, F Coatleven, F Cardinaud, L Guibaud, S Collardeau Frachon","doi":"10.1080/15513815.2025.2496413","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To describe and discuss prenatal imaging and post-termination pathological features of extensive cystic lymphatic malformation (CLM) associated with PIK3CA mutation of PROS.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>Such prenatal diagnosis is crucial for prenatal counseling in the light of promising targeted therapy leading to orientate the couple.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-17"},"PeriodicalIF":0.7000,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Extensive Cystic lymphatic malformation with PIK3CA-Related Overgrowth Spectrum: Prenatal Diagnosis and Autopsy Findings in 3 Fetal Cases.\",\"authors\":\"M Sarreau, F Pelluard, S Martin Berenguer, F Sauvestre, F Coatleven, F Cardinaud, L Guibaud, S Collardeau Frachon\",\"doi\":\"10.1080/15513815.2025.2496413\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To describe and discuss prenatal imaging and post-termination pathological features of extensive cystic lymphatic malformation (CLM) associated with PIK3CA mutation of PROS.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>Such prenatal diagnosis is crucial for prenatal counseling in the light of promising targeted therapy leading to orientate the couple.</p>\",\"PeriodicalId\":50452,\"journal\":{\"name\":\"Fetal and Pediatric Pathology\",\"volume\":\" \",\"pages\":\"1-17\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-06-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Fetal and Pediatric Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/15513815.2025.2496413\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fetal and Pediatric Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/15513815.2025.2496413","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
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.
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.