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Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature.
- Source :
-
Prenatal diagnosis [Prenat Diagn] 2024 Jun 25. Date of Electronic Publication: 2024 Jun 25. - Publication Year :
- 2024
- Publisher :
- Ahead of Print
-
Abstract
- 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.<br />Methods: A national retrospective study was conducted. Clinical data, prenatal ultrasounds and postmortem findings of fetal acute leukemia cases were collected and analyzed.<br />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.<br />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.<br /> (© 2024 John Wiley & Sons Ltd.)
Details
- Language :
- English
- ISSN :
- 1097-0223
- Database :
- MEDLINE
- Journal :
- Prenatal diagnosis
- Publication Type :
- Academic Journal
- Accession number :
- 38923613
- Full Text :
- https://doi.org/10.1002/pd.6630