Abstract:
:Transient myeloproliferative disorder (TMD) of the newborn and acute megakaryoblastic leukaemia (AMKL) in children with Down syndrome (DS) represent paradigmatic models of leukaemogenesis. Chromosome 21 gene dosage effects and truncating mutations of the X-chromosomal transcription factor GATA1 synergize to trigger TMD and AMKL in most patients. Here, we report the occurrence of TMD, which spontaneously remitted and later progressed to AMKL in a patient without DS but with a distinct dysmorphic syndrome. Genetic analysis of the leukaemic clone revealed somatic trisomy 21 and a truncating GATA1 mutation. The analysis of the patient's normal blood cell DNA on a genomic single nucleotide polymorphism (SNP) array revealed a de novo germ line 2·58 Mb 15q24 microdeletion including 41 known genes encompassing the tumour suppressor PML. Genomic context analysis of proteins encoded by genes that are included in the microdeletion, chromosome 21-encoded proteins and GATA1 suggests that the microdeletion may trigger leukaemogenesis by disturbing the balance of a hypothetical regulatory network of normal megakaryopoiesis involving PML, SUMO3 and GATA1. The 15q24 microdeletion may thus represent the first genetic hit to initiate leukaemogenesis and implicates PML and SUMO3 as novel components of the leukaemogenic network in TMD/AMKL.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Haemmerling S,Behnisch W,Doerks T,Korbel JO,Bork P,Moog U,Hentze S,Grasshoff U,Bonin M,Rieß O,Janssen JW,Jauch A,Bartram CR,Reinhardt D,Koch KA,Bandapalli OR,Kulozik AEdoi
10.1111/j.1365-2141.2012.09028.xsubject
Has Abstractpub_date
2012-04-01 00:00:00pages
180-7issue
2eissn
0007-1048issn
1365-2141journal_volume
157pub_type
杂志文章abstract::Bone mineral content (BMC) of the radius was measured using single photon absorptiometry (SPA) in nine children with congenital neutropenia. Five had normal values. Two children with severe congenital neutropenia (SCN) had low BMC, and two boys with Schwachman syndrome had biochemistry suggestive of rickets. ...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
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journal_title:British journal of haematology
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journal_title:British journal of haematology
pub_type: 临床试验,杂志文章,随机对照试验
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journal_title:British journal of haematology
pub_type: 临床试验,杂志文章,随机对照试验
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journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
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pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
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