PMID- 10616523 OWN - NLM STAT- MEDLINE DCOM- 20000113 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 116 IP - 1 DP - 2000 Jan 1 TI - The role of p53 in megakaryocyte differentiation and the megakaryocytic leukemias of Down syndrome. PG - 1-5 AB - Sequence analysis of the p53 tumor suppressor gene was performed on diagnostic blood and bone marrow samples from nine children with Down syndrome and acute megakaryoblastic leukemia. p53 sequence alterations were not observed in any of seven cases of transient leukemia; however, samples from two of three patients with acute megakaryoblastic leukemia harbored sequence alterations. The acquisition of both mutations (Gly245Val and Arg72Pro) in the transformation from transient leukemia to overt acute megakaryoblastic leukemia suggests a functional role of mutant p53 in the evolution of this disease. FAU - Malkin, D AU - Malkin D AD - Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada. FAU - Brown, E J AU - Brown EJ FAU - Zipursky, A AU - Zipursky A LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (Tumor Suppressor Protein p53) RN - 94ZLA3W45F (Arginine) RN - 9DLQ4CIU6V (Proline) RN - HG18B9YRS7 (Valine) RN - TE7660XO1C (Glycine) SB - IM MH - Amino Acid Sequence MH - Arginine MH - Base Sequence MH - *Cell Differentiation MH - Child MH - Child, Preschool MH - Down Syndrome/genetics/*pathology MH - Female MH - Genes, p53 MH - Glycine MH - Humans MH - Leukemia, Megakaryoblastic, Acute/genetics/*pathology MH - Male MH - Megakaryocytes/*pathology MH - Mutation MH - Proline MH - Sequence Analysis, DNA MH - Tumor Suppressor Protein p53/*physiology MH - Valine EDAT- 2000/01/05 00:00 MHDA- 2000/01/05 00:01 CRDT- 2000/01/05 00:00 PHST- 2000/01/05 00:00 [pubmed] PHST- 2000/01/05 00:01 [medline] PHST- 2000/01/05 00:00 [entrez] AID - S0165-4608(99)00072-2 [pii] AID - 10.1016/s0165-4608(99)00072-2 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2000 Jan 1;116(1):1-5. doi: 10.1016/s0165-4608(99)00072-2.