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GATA1 mutation and trisomy 21 are required only in haematopoietic cells for development of transient myeloproliferative disorder
Author(s) -
Carpenter Emily,
ValverdeGarduno Veronica,
Sternberg Alex,
Mitchell Chris,
Roberts Irene,
Vyas Paresh,
Vora Ajay
Publication year - 2005
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2004.05342.x
Subject(s) - gata1 , haematopoiesis , trisomy , mutation , polycythemia vera , myeloproliferative disorders , transient (computer programming) , medicine , cancer research , immunology , genetics , biology , stem cell , computer science , gene , operating system
Summary Trisomy 21 [Down's syndrome (DS)] and mutations in transcription factor GATA1 predispose neonates to a transient myeloproliferative disorder (TMD) and/or acute megakaryocytic leukaemia (AMKL). The role of trisomy 21 in their pathogenesis is unclear. We previously reported two rare neonates without DS who had TMD, one of whom progressed to AMKL. Trisomy 21 was detected only in blood cells at presentation with TMD/AMKL and disappeared with disease resolution. We now show that the blood cells at presentation of TMD harboured GATA1 genomic DNA mutations, suggesting a requirement for trisomy 21 in haematopoietic cells, rather than other cell types, for development of TMD/AMKL.