Pierre-Louis Forey, Maud Favier, Claire Beneteau, Sophie Berenguer, Lydie Da Costa, Virginie Guigue, Philippe Loget, Julia Torrents, Laura Samaison, Didier Riethmuller, Sophie Collardeau-Frachon
{"title":"急性胎儿白血病:何时应怀疑?应进行哪些评估?系列病例和文献综述。","authors":"Pierre-Louis Forey, Maud Favier, Claire Beneteau, Sophie Berenguer, Lydie Da Costa, Virginie Guigue, Philippe Loget, Julia Torrents, Laura Samaison, Didier Riethmuller, Sophie Collardeau-Frachon","doi":"10.1002/pd.6630","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Acute fetal leukemia is rare and characterized by a very poor prognosis. The aims of this study were to identify cases of acute fetal leukemia and to describe ultrasound and fetopathological findings that should lead to a suspicion of this diagnosis, as well as the investigations required to confirm it.</p><p><strong>Methods: </strong>A national retrospective study was conducted. Clinical data, prenatal ultrasounds and postmortem findings of fetal acute leukemia cases were collected and analyzed.</p><p><strong>Results: </strong>We collected seven cases: four in utero fetal deaths, two neonatal deaths and one termination of pregnancy. Prenatal ultrasounds showed fetal hydrops (42.9%) associated with hepatosplenomegaly (100%). In addition, post-mortem examination (n = 6) suggested a Down syndrome in one case and showed other organomegaly (83.3%) due to blastic infiltration, mainly in the liver, along with extrahepatic multivisceral hematopoiesis. Immunostainings allowed to specify the type of leukemia (71.4%). In one case, diagnosis was made on blood smear and flow cytometry was performed on fresh blood samples. All cases corresponded to acute myeloid leukemia. Karyotype was abnormal in 4 cases (66.7%), including one free trisomy 21, two mosaic trisomy 21 and one chromosome 15 deletion. GATA1 gene mutations were identified in two cases: one mosaic trisomy 21 and one with normal karyotype.</p><p><strong>Conclusion: </strong>Any hepatosplenomegaly associated with fetal hydrops and a negative immune, infectious, and metabolic work-up, should suggest acute fetal leukemia and prompt additional investigations.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7000,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature.\",\"authors\":\"Pierre-Louis Forey, Maud Favier, Claire Beneteau, Sophie Berenguer, Lydie Da Costa, Virginie Guigue, Philippe Loget, Julia Torrents, Laura Samaison, Didier Riethmuller, Sophie Collardeau-Frachon\",\"doi\":\"10.1002/pd.6630\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Acute fetal leukemia is rare and characterized by a very poor prognosis. The aims of this study were to identify cases of acute fetal leukemia and to describe ultrasound and fetopathological findings that should lead to a suspicion of this diagnosis, as well as the investigations required to confirm it.</p><p><strong>Methods: </strong>A national retrospective study was conducted. Clinical data, prenatal ultrasounds and postmortem findings of fetal acute leukemia cases were collected and analyzed.</p><p><strong>Results: </strong>We collected seven cases: four in utero fetal deaths, two neonatal deaths and one termination of pregnancy. Prenatal ultrasounds showed fetal hydrops (42.9%) associated with hepatosplenomegaly (100%). In addition, post-mortem examination (n = 6) suggested a Down syndrome in one case and showed other organomegaly (83.3%) due to blastic infiltration, mainly in the liver, along with extrahepatic multivisceral hematopoiesis. Immunostainings allowed to specify the type of leukemia (71.4%). In one case, diagnosis was made on blood smear and flow cytometry was performed on fresh blood samples. All cases corresponded to acute myeloid leukemia. Karyotype was abnormal in 4 cases (66.7%), including one free trisomy 21, two mosaic trisomy 21 and one chromosome 15 deletion. GATA1 gene mutations were identified in two cases: one mosaic trisomy 21 and one with normal karyotype.</p><p><strong>Conclusion: </strong>Any hepatosplenomegaly associated with fetal hydrops and a negative immune, infectious, and metabolic work-up, should suggest acute fetal leukemia and prompt additional investigations.</p>\",\"PeriodicalId\":20387,\"journal\":{\"name\":\"Prenatal Diagnosis\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2024-06-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Prenatal Diagnosis\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/pd.6630\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Prenatal Diagnosis","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/pd.6630","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature.
Introduction: Acute fetal leukemia is rare and characterized by a very poor prognosis. The aims of this study were to identify cases of acute fetal leukemia and to describe ultrasound and fetopathological findings that should lead to a suspicion of this diagnosis, as well as the investigations required to confirm it.
Methods: A national retrospective study was conducted. Clinical data, prenatal ultrasounds and postmortem findings of fetal acute leukemia cases were collected and analyzed.
Results: We collected seven cases: four in utero fetal deaths, two neonatal deaths and one termination of pregnancy. Prenatal ultrasounds showed fetal hydrops (42.9%) associated with hepatosplenomegaly (100%). In addition, post-mortem examination (n = 6) suggested a Down syndrome in one case and showed other organomegaly (83.3%) due to blastic infiltration, mainly in the liver, along with extrahepatic multivisceral hematopoiesis. Immunostainings allowed to specify the type of leukemia (71.4%). In one case, diagnosis was made on blood smear and flow cytometry was performed on fresh blood samples. All cases corresponded to acute myeloid leukemia. Karyotype was abnormal in 4 cases (66.7%), including one free trisomy 21, two mosaic trisomy 21 and one chromosome 15 deletion. GATA1 gene mutations were identified in two cases: one mosaic trisomy 21 and one with normal karyotype.
Conclusion: Any hepatosplenomegaly associated with fetal hydrops and a negative immune, infectious, and metabolic work-up, should suggest acute fetal leukemia and prompt additional investigations.
期刊介绍:
Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling