PMID- 28123540
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 1792-1074 (Print)
IS  - 1792-1082 (Electronic)
IS  - 1792-1074 (Linking)
VI  - 13
IP  - 1
DP  - 2017 Jan
TI  - Sometimes it is better to wait: First Italian case of a newborn with transient 
      abnormal myelopoiesis and a favorable prognosis.
PG  - 191-195
LID - 10.3892/ol.2016.5401 [doi]
AB  - 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.
FAU - Salvatori, Guglielmo
AU  - Salvatori G
AD  - Department of Neonatology, Bambino Gesu Children's Hospital, I-00165 Rome, Italy.
FAU - Foligno, Silvia
AU  - Foligno S
AD  - Department of Neonatology, Bambino Gesu Children's Hospital, I-00165 Rome, Italy.
FAU - Sirleto, Pietro
AU  - Sirleto P
AD  - Department of Genetic Laboratories, Bambino Gesu Children's Hospital, I-00165 
      Rome, Italy.
FAU - Genovese, Silvia
AU  - Genovese S
AD  - Department of Genetic Laboratories, Bambino Gesu Children's Hospital, I-00165 
      Rome, Italy.
FAU - Russo, Serena
AU  - Russo S
AD  - Department of Genetic Laboratories, Bambino Gesu Children's Hospital, I-00165 
      Rome, Italy.
FAU - Coletti, Valentina
AU  - Coletti V
AD  - Department of Hematology, Bambino Gesu Children's Hospital, I-00165 Rome, Italy.
FAU - Dotta, Andrea
AU  - Dotta A
AD  - Department of Neonatology, Bambino Gesu Children's Hospital, I-00165 Rome, Italy.
FAU - Luciani, Matteo
AU  - Luciani M
AD  - Department of Hematology, Bambino Gesu Children's Hospital, I-00165 Rome, Italy.
LA  - eng
PT  - Journal Article
DEP - 20161121
PL  - Greece
TA  - Oncol Lett
JT  - Oncology letters
JID - 101531236
PMC - PMC5244853
OTO - NOTNLM
OT  - Down syndrome
OT  - acute megakaryoblastic leukemia
OT  - transient abnormal myelopoiesis
OT  - transient myeloproliferative disorder
EDAT- 2017/01/27 06:00
MHDA- 2017/01/27 06:01
PMCR- 2016/11/21
CRDT- 2017/01/27 06:00
PHST- 2015/12/09 00:00 [received]
PHST- 2016/07/21 00:00 [accepted]
PHST- 2017/01/27 06:00 [entrez]
PHST- 2017/01/27 06:00 [pubmed]
PHST- 2017/01/27 06:01 [medline]
PHST- 2016/11/21 00:00 [pmc-release]
AID - OL-0-0-5401 [pii]
AID - 10.3892/ol.2016.5401 [doi]
PST - ppublish
SO  - Oncol Lett. 2017 Jan;13(1):191-195. doi: 10.3892/ol.2016.5401. Epub 2016 Nov 21.