Transient abnormal myelopoiesis of a newborn not associated with chromosome 21 abnormalities or <i>GATA1</i> mutations

Nakashima, Megan O.; Shetty, Shashirekha; Chicka, Michael C.; Flagg, Aron; Eng, Charis; Cotta, Claudiu V.

doi:10.1002/pbc.25226

Cited by 4 publications

(3 citation statements)

References 6 publications

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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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“…We are also aware of two other patients with TL without mutations in GATA1 . Although the causative mutation was not identified in one of these patients , the last case was associated with a germ line mutation in BRAF . The importance of context (size) and the hematopoietic stem cell pool as depicted in our model, is also illustrated by the cumulative incidence of acute leukemia in children born with Fanconi anemia (FA), a rare form of inherited marrow failure syndrome.…”

Section: Discussionmentioning

confidence: 91%

Ontogenic growth as the root of fundamental differences between childhood and adult cancer

2015

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Cancer, the unregulated proliferation of cells, can occur at any age and may arise from almost all cell types. However, the incidence and types of cancer differ with age. Some cancers are predominantly observed in children, others are mostly restricted to older ages. Treatment strategies of some cancers are very successful and cure is common in childhood, while treatment of the same cancer type is much more challenging in adults. Here, we develop a stochastic model of stem cell proliferation that considers both tissue development and homeostasis and discuss the disturbance of such a system by mutations. Due to changes in population size, mutant fitness becomes context dependent and consequently the effects of mutations on the stem cell population can vary with age. We discuss different mutant phenotypes and show the age dependency of their expected abundances. Most importantly, fitness of particular mutations can change with age and advantageous mutations can become deleterious or vice versa. This perspective can explain unique properties of childhood disorders, for example, the frequently observed phenomenon of a self-limiting leukemia in newborns with trisomy 21, but also explains other puzzling observations such as the increased risk of leukemia in patients with bone marrow failure or chemotherapy induced myelodysplasia. STEM CELLS 2016;34:543-550 SIGNIFICANCE STATEMENTWe use a mathematical model to show that the stage of development of a person from a newborn until they reach adult life has a major impact on the behavior of mutations within stem cells that can lead to cancer. We show how at different stages, various mutational patterns can provide a fitness advantage or even disadvantage depending on their context. We illustrate this with specific examples from acute leukemia in children and adults.

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“…Специфическая «усекающая» N-терминальный конец белка мутация в гене GATA1 по типу «стоп кодон» во втором (реже -третьем) экзоне гена приводит к синтезу укороченного белка GATA1s. Укороченный белок имеет сниженную регуляторную активность в отношении терминальной дифференцировки мегака-риоцитов и приводит к накоплению их малодифференцированных предшественников [3][4][5][6].…”

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Cases of transient abnormal myelopoiesis

Klimentova

Чиквина

Хачатрян

2020

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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Transient abnormal myelopoiesis (TAM) is a unique hematological syndrome specific for neonates with Down syndrome. Clinical and hematological manifestations of ТАМ are similar manifestations of acute leukemia, but they may resolve spontaneously by few weeks/months after birth. Summation trisomy 21 and GATA1 mutation in blast clone is a required element for development TAM. Presentation of this syndrome occurs in the first days of life; clinical manifestations may be absent (“silent” TAM) or even lead to death of fetus and neonate. The main interest in the study of this issue is the fact that after spontaneous regression there in 20% of cases at the age of 3–4 years developing acute megakaryoblastic leukaemia (AMKL). The basic transformation factors TAM to AMKL are unknown. In this article we represent 6 cases of TAM identified in Dmitry Rogachev National Research Center for Pediatric Hematology, Oncology, and Immunology from 2012 to 2019. Parents of these patients gave their agreement to use personal data in research and publications.

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Transient abnormal myelopoiesis of a newborn not associated with chromosome 21 abnormalities or GATA1 mutations

Cited by 4 publications

References 6 publications

Neonatal leukaemia

Neonatal leukaemia

Ontogenic growth as the root of fundamental differences between childhood and adult cancer

Cases of transient abnormal myelopoiesis

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