2007
DOI: 10.1182/blood-2007-01-069542
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Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome

Abstract: Somatic mutations in the GATA1 gene are present in almost all cases of Down syndrome (DS)-associated acute megakaryoblastic leukemia (AMKL) and transient leukemia (TL). An in utero origin of the GATA1 mutation suggests it is an early leukemogenic event. To determine the detectable incidence and clinical relevance of GATA1 mutations in DS newborns, we screened Guthrie cards from 590 DS infants for mutations in the GATA1 gene. Twenty-two (3.8%) of 585 evaluable infants harbored a predicted functional GATA1 mutat… Show more

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Cited by 124 publications
(99 citation statements)
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“…Considering only the newborns, under 30 days of life, the frequency of mutations was 1.6% (two out of 125). Previous studies by Zipursky et al (1997), Ahmed et al (2004) and Pine et al (2007) showed higher TMD frequencies of 10.4% (eight out of 77), 9.5% (two out of 21) and 3.8% (22 out of 585), respectively. However, if we include in the frequency the two TMD patients in whom we failed to identify a GATA1 mutation, the frequency would be 3.2% (four out of 125 DS newborns), close to the frequency published by Pine et al (2007).…”
Section: Discussionmentioning
confidence: 65%
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“…Considering only the newborns, under 30 days of life, the frequency of mutations was 1.6% (two out of 125). Previous studies by Zipursky et al (1997), Ahmed et al (2004) and Pine et al (2007) showed higher TMD frequencies of 10.4% (eight out of 77), 9.5% (two out of 21) and 3.8% (22 out of 585), respectively. However, if we include in the frequency the two TMD patients in whom we failed to identify a GATA1 mutation, the frequency would be 3.2% (four out of 125 DS newborns), close to the frequency published by Pine et al (2007).…”
Section: Discussionmentioning
confidence: 65%
“…Screening for GATA1 mutations in DS newborns without clinical findings of TMD have been reported by Ahmed et al (2004) and Pine et al (2007) using PCR direct sequencing. Here, we screened 168 DS patients without clinical manifestations of TMD and one DS .…”
Section: Discussionmentioning
confidence: 99%
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“…TAM, a clonal myeloproliferative syndrome, presents in the fetus or a few days after birth and in most cases resolves spontaneously within 3 months [7,8]. Typically, TAM is characterized by the presence of high numbers of circulating blast cells expressing CD33, CD38, CD117, CD34, CD7, CD56, CD36, CD71, and CD42b [9], which are indistinguishable from blasts observed in DS-AMKL.…”
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confidence: 99%
“…Although this subtype is rare and has a dismal outcome in pediatric patients without constitutional chromosomal abnormalities, it is the most frequent one in patients with Down syndrome (DS) (2). Patients with DS not only show an increased incidence of leukemia compared to the general pediatric population but also about 5-10% of all infants with DS develop a transient myeloproliferative disorder (TMD) characterized by clonal proliferation of typically megakaryoblastic or erythroblastic myeloid blasts (3)(4)(5)(6). In most patients this disease is self-limiting and disappears within the first few months of life without treatment.…”
mentioning
confidence: 99%