Abstract
Myeloid proliferative disorders associated with Down syndrome (MPD-DS), including transient abnormal myelopoiesis and myeloid leukemia associated with Down syndrome (DS), harbor mutations of GATA1, a transcription factor essential for erythroid and megakaryocytic development. These mutations result in a N-terminally truncated GATA1 (GATA1s) and prohibit the production of the full-length GATA1 (GATA1f). Here, we demonstrate the utility of immunohistochemical GATA1f reactivity in diagnosing MPD-DS. Immunohistochemical studies for GATA1f expression were performed on bone marrow biopsy specimens. In all cases of MPD-DS, megakaryocytes lacked GATA1f expression. In contrast, GATA1f expression was detected in megakaryocytes in all specimen types from patients without DS (normal bone marrows, pediatric myelodysplastic syndrome, juvenile myelomonocytic leukemia, adult acute megakaryocytic leukemia [pediatric and adult; without trisomy 2]), as well as normal bone marrows from patients with DS. The lack of GATA1f expression is a sensitive and specific immunohistochemical marker for MPD-DS.
References
May 29, 2002·Oncogene·Alan B Cantor, Stuart H Orkin
Aug 13, 2002·Nature Genetics·Joshua WechslerJohn D Crispino
Apr 9, 2004·Blood·Hideo HarigaeEtsuro Ito
Apr 29, 2005·Klinische Pädiatrie·C LangebrakeD Reinhardt
May 17, 2005·Nature Genetics·Zhe LiStuart H Orkin
May 27, 2005·Leukemia Research·Sharon R PineClaudio Sandoval
Jun 20, 2006·Nature Genetics·Luciana M HollandaFernando F Costa
Jul 15, 2009·British Journal of Haematology·Anindita RoyParesh Vyas
Jul 28, 2009·Blood·Diane C CabelofJeffrey W Taub
Jul 1, 2011·Blood·Kate A AlfordUNKNOWN International Myeloid Leukemia-Down Syndrome Study Group
Jun 19, 2012·The Journal of Clinical Investigation·Vijay G SankaranHanna T Gazda
Oct 10, 2012·The Journal of Experimental Medicine·Clarisse ThiollierThomas Mercher
Feb 27, 2013·Blood·Tsutomu TokiEtsuro Ito
May 31, 2013·Blood·Yehudit BirgerShai Izraeli
Jun 5, 2013·Blood·Sergey I NikolaevStylianos E Antonarakis
Sep 12, 2013·Blood·Irene RobertsUNKNOWN Oxford-Imperial Down Syndrome Cohort Study Group
Aug 27, 2014·British Journal of Haematology·Irene Roberts, Shai Izraeli
Oct 1, 2014·Archives of Pathology & Laboratory Medicine·Melissa Bombery, Jo-Anne Vergilio
Jan 27, 2015·The Journal of Clinical Investigation·Marta Byrska-BishopStella T Chou
Jul 19, 2015·Blood·Tanja A Gruber, James R Downing
Apr 14, 2016·Blood·Daniel A ArberJames W Vardiman
May 3, 2016·Cell Reports·Kimihiko BannoKeiichi Ozono
Aug 12, 2016·Current Hematologic Malignancy Reports·Neha BhatnagarIrene Roberts
Mar 25, 2017·American Journal of Clinical Pathology·Winston Y LeeGeraldine S Pinkus
Citations
Jun 20, 2020·Blood·David Cruz HernandezParesh Vyas
Apr 13, 2019·Sensors·Chuanpin ChenTingting Hong
May 3, 2019·Critical Reviews in Clinical Laboratory Sciences·Valentina SasCiprian Tomuleasa