Successful Treatment of Congenital Erythroleukemia With Low-Dose Cytosine Arabinoside

Halliday, Gail; O’Reilly, John; Kelsey, Chloe; Cole, Catherine; Kotecha, Rishi S.

doi:10.1002/pbc.25766

Cited by 3 publications

(1 citation statement)

References 10 publications

(21 reference statements)

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“…The second most common immunophenotypic subtype is acute megakaryoblastic leukaemia associated with t(1;22)(p13.3; q13.1) (see below). There are occasional cases of acute basophilic leukaemia (Kurosawa et al, 1987), erythroleukaemia (Lasson & Goos, 1981;Allan et al, 1989;Hadjiyannakis et al, 1998;Lazure et al, 2003;Van Dongen et al, 2009;Halliday et al, 2016), acute megakaryoblastic leukaemia without t(1;22) (Nakashima et al, 2015;Schifferli et al, 2015;Tsujimoto et al, 2015;Bertrums et al, 2017) or acute leukaemia expressing both erythroid and megakaryocytic markers (Mori et al, 1997). Many of the reported cases with erythroid involvement were not pure erythroid leukaemia and would currently be classified as another type of AML.…”

Section: Clinical and Laboratory Featuresmentioning

confidence: 99%

Neonatal leukaemia

et al. 2018

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Neonatal leukaemia is defined as occurring within the first 28 days of life and most, if not all, cases are congenital. With the exception of Down syndrome-associated transient abnormal myelopoiesis, which is not considered here, neonatal leukaemias are rare. In two-thirds of patients the disease manifests as an acute myeloid leukaemia, frequently with monocytic/monoblastic characteristics. Most other cases are acute lymphoblastic leukaemia, particularly B lineage, but some are mixed phenotype or blastic plasmacytoid dendritic cell neoplasms. The most frequently observed cytogenetic/molecular abnormality is t(4;11)(q21.3;q23.3)/KMT2A-AFF1 followed by t(1;22)(p13.3;q13.1)/RBM15-MKL1 and t(8;16)(p11.2;p13.3)/KAT6A-CREBBP. Common clinical features include prominent hepatosplenomegaly and a high incidence of skin involvement, sometimes in the absence of bone marrow disease. A distinctive feature is the occurrence of spontaneous remission in some cases, particularly in association with t(8;16). In this review, we summarise current knowledge of the clinical, cytogenetic and molecular features of neonatal leukaemia and discuss clinical management of these cases.

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Section: Clinical and Laboratory Featuresmentioning

confidence: 99%

Neonatal leukaemia

et al. 2018

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Neonatal infection and leucocyte disorders

2022

Neonatal Haematology

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Congenital immature pure erythroid leukemia with E-cadherin expression

et al. 2017

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Congenital pure erythroid leukemia is exceedingly rare and poses a diagnostic challenge. We report an atypical case of congenital pure erythroid leukemia that did not express typical erythroid markers. The patient presented with a high white blood cell count with blastic cells at birth. Although flow cytometric analyses of peripheral blood and bone marrow showed a large CD45-negative cell population, we did not identify any evidence of monoclonality. While the circulating blasts decreased with only supportive care, hepatomegaly with multiple nodules was accompanied by liver failure, disseminated intravascular coagulation, and development of hemophagocytic lymphohistiocytosis. Pathological examination of the liver biopsy specimen revealed a small round cell tumor that was negative for nearly all hematopoietic cell markers, including classical erythroid cell markers, and positive for CD43, CD71, and E-cadherin, an early erythroid marker epithelial calcium-dependent adhesion protein, suggesting that these tumor cells originated from an immature erythroblast. We found high β-catenin and c-Myc protein expression, which were not previously described in pure erythroid leukemia. Cytosine arabinoside temporarily alleviated clinical symptoms; however, the patient died of progressive disease at 8 months of age. This case indicates that E-cadherin is useful for diagnosing pure erythroid leukemia, even in immature cases.

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Successful Treatment of Congenital Erythroleukemia With Low-Dose Cytosine Arabinoside

Cited by 3 publications

References 10 publications

Neonatal leukaemia

Neonatal leukaemia

Neonatal infection and leucocyte disorders

Congenital immature pure erythroid leukemia with E-cadherin expression

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