Transient abnormal myelopoiesis in pediatrics with trisomy 21

Taee, Nadereh; Faraji-Goodarzi, Mojgan; Safdari, Mohammad; Bajelan, Amir

doi:10.1002/ccr3.3589

Cited by 4 publications

(1 citation statement)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Genetic overexpression of critical loci on chromosomes q22.1 to q22.3 causes a significantly increased risk of acute megakaryoblastic leukemia. This may precede transient abnormal myelopoiesis (TAM) with mutations in hematopoietic transcription factor in the X-linked GATA1 gene [3][4][5].…”

mentioning

confidence: 99%

Life threatening congenital hydropericardium in a newborn with Down syndrome, transient abnormal myelopoiesis, Hirschsprung disease and a ventricular septal defect

et al. 2022

View full text Add to dashboard Cite

mentioning

confidence: 99%

Life threatening congenital hydropericardium in a newborn with Down syndrome, transient abnormal myelopoiesis, Hirschsprung disease and a ventricular septal defect

et al. 2022

View full text Add to dashboard Cite

Prenatal manifestation of Transient Abnormal Myelopoiesis in a genotypically normal fetus: case report and review of the literature

Walasik,

Litwinska-Korcz,

Szpotańska

et al. 2024

Preprint

View full text Add to dashboard Cite

Background: Congenital malignancies are unusual fetal conditions and therefore the data on their prenatal manifestation is limited. Transient abnormal myelopoiesis (TAM) is a hematologic disorder characteristic for babies with trisomy 21 and base on transient appearance of the blast cells in peripheral blood. This paper presents prenatal manifestation of congenital TAM in a genotypically normal newborn and reviews the literature on prenatal manifestation of this disorder. Case presentation: A pregnant woman in her third pregnancy referred herself to the hospital for reduced fetal movements at 30 weeks of gestation. Admission’s ultrasound scan showed an increased middle cerebral artery peak systolic velocity (MCA PSV) together with hepatomegaly. The patient was admitted to the labor ward for cardiotocography monitoring which showed an acute fetal distress with repeated unprovoked decelerations. An emergency cesarean section was conducted and a phenotypically normal female newborn with low Apgar score was delivered. Further examination of peripheral blood revealed anemia and leukocytosis with high blast proportion. A bone marrow aspirate revealed 70.2% of blasts in a sample with an abnormal karyotype of 47,XX+21. Cytogenetic analysis of blasts with later microarray comparative genomic hybridizationconfirmed the presence of GATA1 mutation. However, the buccal smear showed a normal karyotype in the infant. The disease was classified as TAM. The literature review together with the case presentation showed that increased MCA PSV and hepatosplenomegaly are important risk factors of death in fetuses with TAM. Conclusions: Our study demonstrates a rare case of prenatal manifestation of TAM in genotypically normal neonate. Obstetricians should pay attention to symptoms like high MCA PSV and hepatosplenomegaly as possible causes of fetal hematological disorders and differentiate it with infection or isoimmunization.

show abstract

Transient Abnormal Myelopoiesis in Down Syndrome Patients

Pratiwi,

Lopa,

Muhadi

et al. 2024

Indonesian J. Clin. Pathol. Med. Lab.

View full text Add to dashboard Cite

Neonates with Down Syndrome (DS) have a propensity to develop the unique myeloproliferative disorder, Transient Abnormal Myelopoiesis (TAM). Transient abnormal myelopoiesis usually resolves spontaneously in < 3 months, but approximately 10% of patients with TAM die from hepatic or multi-organ failure. After remission, 20% of patients with TAM progress into acute myeloid leukemia associated with down syndrome (ML-DS). The patient was a full-term 2-day-old baby girl with a birth weight of 3300 gr. Physical examination revealed dysmorphic facial features, hypertelorism, macroglossia, and low set ears, which is a characteristic sign of DS face, skin rash, and there was no anus. On examination of peripheral blood smears and bone marrow aspiration, hematological abnormalities, and circulating blast cells were found. Early diagnosis of low-lying anorectal malformation (MAR) without fistula and down syndrome. In treating patients with TAM, it is first necessary to know whether they have trisomy 21 syndrome, then trace the existing hematological disorders to find the GATA 1 genetic mutation. The most crucial hematological problem in patients with DS is leukemia. Mutations in the GATA 1 gene and the presence of DS can result in abnormal proliferation of megakaryocytes and erythroid progenitors in the fetus and hematological abnormalities in TAM. Transient abnormal myelopoiesis can be fatal in up to 10% of patients and resolves spontaneously. Therefore, laboratory examinations are very significant, including blood tests, peripheral blood smears, supporting examinations such as bone marrow aspiration, monitoring of clinical symptoms, and close monitoring of comorbidities. Examination repeat or follow-up bone marrow aspiration is required within six months of patient follow-up to reduce the risk of further complications. In this case, a follow-up examination is highly recommended because if there are no changes, the further examination must be carried out.

show abstract

Transient abnormal myelopoiesis in pediatrics with trisomy 21

Cited by 4 publications

References 16 publications

Life threatening congenital hydropericardium in a newborn with Down syndrome, transient abnormal myelopoiesis, Hirschsprung disease and a ventricular septal defect

Life threatening congenital hydropericardium in a newborn with Down syndrome, transient abnormal myelopoiesis, Hirschsprung disease and a ventricular septal defect

Prenatal manifestation of Transient Abnormal Myelopoiesis in a genotypically normal fetus: case report and review of the literature

Transient Abnormal Myelopoiesis in Down Syndrome Patients

Contact Info

Product

Resources

About