Case 19-2003

Wolfe, Lawrence C.; Weinstein, Howard J.; Ferry, Judith A.

doi:10.1056/nejmcpc030012

Cited by 15 publications

(4 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is crucial to perform a complete blood cell count with a peripheral blood smear and a bone marrow aspiration with immunophenotyping and cytogenetic testing (1). The typical presentation of transient leukemia in infants is leukocytosis, often with a higher percentage of blasts in the peripheral blood compared with in the bone marrow (16). Hepatosplenomegaly, pericardial or pleural effusions, and liver disease are common features.…”

Section: Discussionmentioning

confidence: 99%

“…Hepatosplenomegaly, pericardial or pleural effusions, and liver disease are common features. The blasts are frequently of the megakaryocytic or erythroid lineages (16). In the event that a newborn with a normal karyotype and trisomy 21 only in blasts presents symptoms typical of congenital leukemia, the best approach is to ‘wait and see’ and to perform GATA1 gene sequencing as soon as possible.…”

Section: Discussionmentioning

confidence: 99%

“…The mutation detected in this case was a deletion of a single base (c.150delG), which determines an accumulation of uracil in cells under oxidative stress. Moreover, substitutions of a single base in the GATA1 gene have been reported in 6 cases of TAM; in a retrospective series, a myelodysplastic syndrome or acute myeloid leukemia (20), often of the acute megakaryoblastic type, developed in ~30% of patients with TAM (16). …”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis

Salvatori¹,

Foligno²,

Sirleto³

et al. 2016

Oncology Letters

View full text Add to dashboard Cite

Congenital leukemia is rare disease with an incidence of one to five cases per million births. Transient abnormal myelopoiesis (TAM), also called transient myeloproliferative disorder, is a pre-leukemia disorder that may occur in Down syndrome (DS) or non-DS infants. TAM may enter spontaneous remission; however, continual monitoring is required, as this disorder has been observed to develop into acute megakaryoblastic leukemia in 16–30% of cases. In the literature, 16 cases of TAM in non-DS infants have been reported. The case presented in the current study is, to the best of our knowledge, the first case of an Italian non-DS newborn presenting with clinical manifestations of acute leukemia at five days after birth, exhibiting a normal karyotype, trisomy 21 only in blast cells, and spontaneous remission. Chromosomal analyses on peripheral blood cells, bone marrow cells and dermal fibroblasts were conducted using a G-banding technique, and fluorescence in situ hybridization (FISH) was used to identify the critical regions of DS. Amplification of GATA binding protein 1 (GATA1) exon 2 genomic DNA was performed using polymerase chain reaction. Cytogenetic analysis of 50 peripheral blood cells and dermal fibroblasts from the patient revealed a normal karyotype: 46, XX. Conversely, cytogenetic analysis of the patient's bone marrow revealed an abnormal karyotype 47, XX+21. In order to investigate this result, FISH was performed, which identified the presence of three signals in 70% of the cells and two signals in 30% of bone marrow cells. GATA1 sequencing revealed the substitution of a single base (c.150delG) in exon 2. Seven months after the initial analysis, FISH and cytogenetic analyses of the stimulated/unstimulated peripheral blood cells and bone marrow cells were performed, revealing that each exhibited diploid signals, as observed in a normal karyotype.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis

Salvatori¹,

Foligno²,

Sirleto³

et al. 2016

Oncology Letters

View full text Add to dashboard Cite

show abstract

“…The absence of an orderly morphologic progression between the blasts and the mature cells (so called “Leukemic Hiatus”), along with very highly elevated LDH levels can help to differentiate leukemia from leukemoid reactions. [5]…”

Section: Discussionmentioning

confidence: 99%

Hyperleukocytosis in a neonate: A diagnostic dilemma

Sushanth

Avabratha

Tauro

et al. 2010

Indian J Med Paediatr Oncol

View full text Add to dashboard Cite

A preterm baby presented with lethargy and tachypnea. Blood counts revealed hyperleukocytosis. Peripheral smear and bone marrow examination were not suggestive of leukemia. The baby was treated for sepsis. The baby recovered and WBC counts gradually reduced. Hyperleukocytosis was presumed to be a part of leukemoid reaction secondary to sepsis. The diagnostic possibilities with a review of literature are also presented.

show abstract

Tetrasomy 21 transient leukemia with aGATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: Case report and review of the literature

Sandoval

Pine

Guo

et al. 2004

Pediatr. Blood Cancer

View full text Add to dashboard Cite

Infants with constitutional trisomy 21 are at increased risk of developing transient and acute megakaryoblastic leukemia (AMKL). Mutations in GATA1 have been identified in trisomy 21 patients with AMKL, and this lesion is thought to be an initial event by virtue of its presence during transient leukemia. Transient leukemia is also observed in phenotypically normal infants albeit much less commonly so. Almost all these infants are mosaic for trisomy 21, and the clinical course of transient leukemia recapitulates that observed in constitutional trisomy 21. We report a phenotypically normal infant with tetrasomy 21 transient leukemia, GATA1 mutation within exon 2, and trisomy 21 mosaicism restricted to the hematopoietic tissue. Two years after diagnosis, low levels of trisomy 21 persisted in the peripheral blood, which resolved 2.5 years after diagnosis. The GATA1 mutation was not detected at last follow-up. The literature review identified 32 phenotypically normal infants with transient leukemia. Ninety-one percent (29 of 32) were observed and three received chemotherapy at diagnosis of transient leukemia. Nineteen percent (6 of 32) developed acute leukemia, and four continued in remission (two died). Transient leukemia in trisomy 21 mosaicism recapitulates the condition observed in constitutional trisomy 21 at the biological and clinical levels. Infants should be followed for the development of acute leukemia.

show abstract

Case 19-2003

Cited by 15 publications

References 16 publications

Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis

Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis

Hyperleukocytosis in a neonate: A diagnostic dilemma

Tetrasomy 21 transient leukemia with aGATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: Case report and review of the literature

Contact Info

Product

Resources

About