ArticleAmerican journal of clinical pathology2018
Loss of Full-Length GATA1 Expression in Megakaryocytes Is a Sensitive and Specific Immunohistochemical Marker for the Diagnosis of Myeloid Proliferative Disorder Related to Down Syndrome.
Article in American journal of clinical pathology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 10 citations in OpenAlex.
- Novel Surface-Enhanced Raman Spectroscopy Techniques for DNA, Protein and Drug Detection.Sensors (Basel, Switzerland) · 2019Review
- GATA1 gene silencing inhibits invasion, proliferation and migration of cholangiocarcinoma stem cells via disrupting the PI3K/AKT pathway.OncoTargets and therapy · 2019Article
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
objectivesMyeloid 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.
methodsImmunohistochemical studies for GATA1f expression were performed on bone marrow biopsy specimens.
resultsIn 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.
conclusionsThe lack of GATA1f expression is a sensitive and specific immunohistochemical marker for MPD-DS.
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