PMID- 14734226 OWN - NLM STAT- MEDLINE DCOM- 20040305 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 148 IP - 2 DP - 2004 Jan 15 TI - Interphase cytogenetic analysis of clonality in peripheral blood cells from a patient with Down syndrome and acute megakaryoblastic leukemia. PG - 141-4 AB - A combination of fluorescence-activated cell sorting and interphase fluorescence in situ hybridization (FISH) techniques was used to detect a clonal chromosomal marker in blasts, granulocytes, and T and B lymphocytes of the peripheral blood from a patient with Down syndrome and acute megakaryoblastic leukemia (AMKL) associated with trisomy 8 as a karyotypic abnormality. Immunophenotypic studies with flow cytometry showed two populations of leukemic blasts distinguished by their expression of the CD34 antigen. Interphase FISH studies revealed clonal trisomy 8 FISH signals in almost all blast cells, regardless of CD34 expression, as well as in a small subpopulation of granulocytes. Normal chromosome 8 signal patterns were detected in T and B cells and in a great majority of granulocytes. The present study provides evidence for the clonal involvement of leukemic blasts in AMKL of Down syndrome, indicating that a trisomy 8 abnormality may be a primary event in leukemogenesis. The transformation occurs in progenitor cells with limited myeloid differentiation and without involvement of lymphoid lineage cells. FAU - Chang, Hong AU - Chang H AD - Princess Margaret Hospital, University Health Network, University of Toronto, 4-320 Toronto, Ontario M5G 2M9, Canada. hong.chang@uhn.on.ca FAU - Li, Dan AU - Li D FAU - Nayar, Rakash AU - Nayar R FAU - Ye, Charles AU - Ye C FAU - Lau, Wendy AU - Lau W FAU - Sutherland, D Robert AU - Sutherland DR LA - eng PT - Case Reports PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (Antigens, CD34) SB - IM MH - Antigens, CD34/genetics MH - Child, Preschool MH - Cytogenetic Analysis MH - Down Syndrome/*genetics MH - Female MH - Flow Cytometry MH - Humans MH - In Situ Hybridization, Fluorescence MH - *Interphase MH - Leukemia, Megakaryoblastic, Acute/*genetics EDAT- 2004/01/22 05:00 MHDA- 2004/03/06 05:00 CRDT- 2004/01/22 05:00 PHST- 2004/01/22 05:00 [pubmed] PHST- 2004/03/06 05:00 [medline] PHST- 2004/01/22 05:00 [entrez] AID - S0165460803002735 [pii] AID - 10.1016/s0165-4608(03)00273-5 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2004 Jan 15;148(2):141-4. doi: 10.1016/s0165-4608(03)00273-5.