A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease

Eline J M Bertrums; Arjan Buijs; Martine van Grotel; Natasja Dors; Jasmijn D E de Rooij; Valerie de Haas; Sanne Hopman; Marjolijn C J Jongmans; C M Zwaan; Marry M van den Heuvel-Eibrink

doi:10.1002/pbc.26230

A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease

Eline J M Bertrums, Arjan Buijs, Martine van Grotel, Natasja Dors, Jasmijn D E de Rooij, Valerie de Haas, Sanne Hopman, Marjolijn C J Jongmans, C M Zwaan, Marry M van den Heuvel-Eibrink

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Transient myeloproliferative disorder (TMD) is a leukemia type that occurs typically in newborns. In Down syndrome, TMD is referred to as transient abnormal myelopoiesis (TAM).(32) Recently, transientness has also been reported in acute myeloid leukemia patients with germline trisomy 21 mosaicism, and even in cases with somatic trisomy 21, with or without GATA1 mutations. TMD cases without trisomy 21 are rare, and recurrent genetic aberrations that aid in clinical decision-making are scarcely described. We describe here a TMD patient without trisomy 21 or GATA1 mutation in whom single-nucleotide polymorphism analysis of leukemic blasts revealed a novel combined submicroscopic deletion (5q31.1-5q31.3 and 8q23.2q24).

Original language	English
Article number	e26230
Journal	Pediatric Blood & Cancer
Volume	64
Issue number	3
DOIs	https://doi.org/10.1002/pbc.26230
Publication status	Published - 1 Mar 2017

Keywords

Down syndrome
EXT1
GATA1
non-Down syndrome
transient abnormal myelopoiesis
transient leukemia
transient myeloproliferative disease
transient myeloproliferative disorder
trisomy 21

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title = "A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease",

abstract = "Transient myeloproliferative disorder (TMD) is a leukemia type that occurs typically in newborns. In Down syndrome, TMD is referred to as transient abnormal myelopoiesis (TAM).(32) Recently, transientness has also been reported in acute myeloid leukemia patients with germline trisomy 21 mosaicism, and even in cases with somatic trisomy 21, with or without GATA1 mutations. TMD cases without trisomy 21 are rare, and recurrent genetic aberrations that aid in clinical decision-making are scarcely described. We describe here a TMD patient without trisomy 21 or GATA1 mutation in whom single-nucleotide polymorphism analysis of leukemic blasts revealed a novel combined submicroscopic deletion (5q31.1-5q31.3 and 8q23.2q24).",

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AU - Bertrums, Eline J M

AU - Buijs, Arjan

AU - van Grotel, Martine

AU - Dors, Natasja

AU - de Rooij, Jasmijn D E

AU - de Haas, Valerie

AU - Hopman, Sanne

AU - Jongmans, Marjolijn C J

AU - Zwaan, C M

AU - van den Heuvel-Eibrink, Marry M

PY - 2017/3/1

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N2 - Transient myeloproliferative disorder (TMD) is a leukemia type that occurs typically in newborns. In Down syndrome, TMD is referred to as transient abnormal myelopoiesis (TAM).(32) Recently, transientness has also been reported in acute myeloid leukemia patients with germline trisomy 21 mosaicism, and even in cases with somatic trisomy 21, with or without GATA1 mutations. TMD cases without trisomy 21 are rare, and recurrent genetic aberrations that aid in clinical decision-making are scarcely described. We describe here a TMD patient without trisomy 21 or GATA1 mutation in whom single-nucleotide polymorphism analysis of leukemic blasts revealed a novel combined submicroscopic deletion (5q31.1-5q31.3 and 8q23.2q24).

AB - Transient myeloproliferative disorder (TMD) is a leukemia type that occurs typically in newborns. In Down syndrome, TMD is referred to as transient abnormal myelopoiesis (TAM).(32) Recently, transientness has also been reported in acute myeloid leukemia patients with germline trisomy 21 mosaicism, and even in cases with somatic trisomy 21, with or without GATA1 mutations. TMD cases without trisomy 21 are rare, and recurrent genetic aberrations that aid in clinical decision-making are scarcely described. We describe here a TMD patient without trisomy 21 or GATA1 mutation in whom single-nucleotide polymorphism analysis of leukemic blasts revealed a novel combined submicroscopic deletion (5q31.1-5q31.3 and 8q23.2q24).

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KW - EXT1

KW - GATA1

KW - non-Down syndrome

KW - transient abnormal myelopoiesis

KW - transient leukemia

KW - transient myeloproliferative disease

KW - transient myeloproliferative disorder

KW - trisomy 21

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U2 - 10.1002/pbc.26230

DO - 10.1002/pbc.26230

M3 - Article

C2 - 27667142

SN - 1545-5009

VL - 64

JO - Pediatric Blood & Cancer

JF - Pediatric Blood & Cancer

IS - 3

M1 - e26230

ER -

A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease

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