非体质性唐氏综合征的短暂性异常骨髓生成

IF 0.3 Q4 PEDIATRICS

Journal of Pediatric and Neonatal Individualized Medicine Pub Date : 2020-04-01 DOI:10.7363/090104

Igne Kairiene, V. Dirsė, U. Mickys, Audrone Muleviciene, P. Vyas, J. Rascon

{"title":"非体质性唐氏综合征的短暂性异常骨髓生成","authors":"Igne Kairiene, V. Dirsė, U. Mickys, Audrone Muleviciene, P. Vyas, J. Rascon","doi":"10.7363/090104","DOIUrl":null,"url":null,"abstract":"Transient abnormal myelopoiesis (TAM) is a unique entity that usually occurs in children with Down syndrome (DS) or with trisomy 21 mosaicism. The somatic GATA1 mutation is a distinct feature of TAM. At presentation, TAM can resemble congenital leukemia (CL), which unlike TAM has an extremely poor prognosis and requires prompt therapeutic interventions. Therefore, correct and timely distinction between the two entities is crucial. We report a case of a phenotypically normal infant diagnosed with CL during the first weeks of life that retrospectively was reassessed as TAM. No acute myeloid leukemia (AML) specific mutations were found except for trisomy 21 confined exclusively to leukemic blasts. Retrospectively GATA1 mutation was also detected in malignant cells, but somatic genome appeared to be intact.","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"9 1","pages":""},"PeriodicalIF":0.3000,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Transient abnormal myelopoiesis without constitutional Down syndrome\",\"authors\":\"Igne Kairiene, V. Dirsė, U. Mickys, Audrone Muleviciene, P. Vyas, J. Rascon\",\"doi\":\"10.7363/090104\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Transient abnormal myelopoiesis (TAM) is a unique entity that usually occurs in children with Down syndrome (DS) or with trisomy 21 mosaicism. The somatic GATA1 mutation is a distinct feature of TAM. At presentation, TAM can resemble congenital leukemia (CL), which unlike TAM has an extremely poor prognosis and requires prompt therapeutic interventions. Therefore, correct and timely distinction between the two entities is crucial. We report a case of a phenotypically normal infant diagnosed with CL during the first weeks of life that retrospectively was reassessed as TAM. No acute myeloid leukemia (AML) specific mutations were found except for trisomy 21 confined exclusively to leukemic blasts. Retrospectively GATA1 mutation was also detected in malignant cells, but somatic genome appeared to be intact.\",\"PeriodicalId\":51914,\"journal\":{\"name\":\"Journal of Pediatric and Neonatal Individualized Medicine\",\"volume\":\"9 1\",\"pages\":\"\"},\"PeriodicalIF\":0.3000,\"publicationDate\":\"2020-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Pediatric and Neonatal Individualized Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.7363/090104\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric and Neonatal Individualized Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.7363/090104","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 1

摘要

短暂性骨髓增生异常(TAM)是一种独特的实体，通常发生在唐氏综合征(DS)或21三体嵌合的儿童中。体细胞GATA1突变是TAM的一个显著特征。在表现上，TAM可以类似于先天性白血病(CL)，与TAM不同的是，它预后极差，需要及时的治疗干预。因此，正确和及时地区分这两个实体是至关重要的。我们报告一个病例的表型正常的婴儿诊断为CL在生命的第一个星期，回顾性地重新评估为TAM。没有发现急性髓性白血病(AML)特异性突变，除了仅限于白血病母细胞的21三体。回顾性分析在恶性细胞中也检测到GATA1突变，但体细胞基因组似乎是完整的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Transient abnormal myelopoiesis without constitutional Down syndrome

Transient abnormal myelopoiesis (TAM) is a unique entity that usually occurs in children with Down syndrome (DS) or with trisomy 21 mosaicism. The somatic GATA1 mutation is a distinct feature of TAM. At presentation, TAM can resemble congenital leukemia (CL), which unlike TAM has an extremely poor prognosis and requires prompt therapeutic interventions. Therefore, correct and timely distinction between the two entities is crucial. We report a case of a phenotypically normal infant diagnosed with CL during the first weeks of life that retrospectively was reassessed as TAM. No acute myeloid leukemia (AML) specific mutations were found except for trisomy 21 confined exclusively to leukemic blasts. Retrospectively GATA1 mutation was also detected in malignant cells, but somatic genome appeared to be intact.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Journal of Pediatric and Neonatal Individualized Medicine PEDIATRICS-

CiteScore

1.00

自引率

25.00%

发文量

审稿时长

12 weeks

期刊介绍： The Journal of Pediatric and Neonatal Individualized Medicine (JPNIM) is a peer-reviewed interdisciplinary journal which provides a forum on new perspectives in pediatric and neonatal medicine. The aim is to discuss and to bring readers up to date on the latest in research and clinical pediatrics and neonatology. Special emphasis is on developmental origin of health and disease or perinatal programming and on the so-called ‘-omic’ sciences. Systems medicine blazes a revolutionary trail from reductionist to holistic medicine, from descriptive medicine to predictive medicine, from an epidemiological perspective to a personalized approach. The journal will be relevance to clinicians and researchers concerned with personalized care for the newborn and child. Also medical humanities will be considered in a tailored way. Article submission (original research, review papers, invited editorials and clinical cases) will be considered in the following fields: fetal medicine, perinatology, neonatology, pediatrics, developmental programming, psychology and medical humanities.