A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease.
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).32Recently, 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).
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.|University of Utrecht, Utrecht, The Netherlands.
Eline J M
EJ
Bertrums
Department of Genetics, University Medical Center, Utrecht, The Netherlands.
Arjan
A
Buijs
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Martine
M
van Grotel
Department of Pediatrics, Catharina Hospital, Eindhoven, The Netherlands.
Natasja
N
Dors
Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.
Jasmijn D E
JD
de Rooij
Dutch Childhood Oncology Group (SKION), The Hague, The Netherlands.
Valerie
V
de Haas
Department of Genetics, University Medical Center, Utrecht, The Netherlands.
Sanne
S
Hopman
Department of Genetics, University Medical Center, Utrecht, The Netherlands.
Marjolijn C J
MC
Jongmans
Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.
C M
CM
Zwaan
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.|Department of Pediatrics, Catharina Hospital, Eindhoven, The Netherlands.|University of Utrecht, Utrecht, The Netherlands.
Marry M
MM
van den Heuvel-Eibrink
D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics* / Q000473:pathology; D050982:GATA1 Transcription Factor / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis
D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human
Down syndrome; EXT1; GATA1; non-Down syndrome; transient abnormal myelopoiesis; transient leukemia; transient myeloproliferative disease; transient myeloproliferative disorder; trisomy 21