title: Cell lineage involvement of recurrent chromosomal abnormalities in hematologic neoplasms.
abstract: Analysis of most hematologic neoplasms indicates the involvement of one or more cell lineages in the bone marrow and/or the blood but rules out the involvement of all lineages in any one neoplasm. It is important to detect lineage involvement in order to clarify which stem cells are involved in leukemia, to predict prognosis, and to select appropriate treatment. Our aim was to study the cell lineage involvement of some of the recurrent chromosomal abnormalities seen in hematological neoplasms. The direct morphology-antibody-chromosomes (MAC) method was used. The deletion 20q in myeloproliferative diseases (MPD), the deletion of 5q and t(1;7) in myelodysplastic syndromes (MDS), and t(3;3) in acute myeloid leukemia subtype M7 (AML-M7) were seen in all or at least in two myeloid lineages. These were interpreted as stem cell abnormalities. Deletion 13q in MPD, t(8;21) in AML-M2 and t(15;17) in AML-M3 were seen in granulocytic lineages only; t(14;18) in non-Hodgkin's lymphoma and trisomy 12 as the sole abnormality in chronic lymphocytic leukemia (B-CLL) were seen only in immunoglobulin light chain clonal B cells; inversion 14 in T-CLL was seen only in T cells, whereas t(15;14) in acute lymphocytic leukemia with eosinophilia (ALL-EO) was seen in lymphoid stem cells but not in mature granulocytes or lymphocytes. Additional abnormalities (in addition to the Philadelphia chromosome) in chronic myeloid leukemia (CML) were seen in all myeloid cell lineages and also in mature granulocytes, B cells, and large granular lymphocytes. Abnormalities in Hodgkin's disease were restricted to CD30-positive Reed-Sternberg cells. Trisomy 8 and monosomy 7 are abnormalities that may be present in either stem cells or any of the single cell lineages.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: S
authors.initials: S
authors.lastname: Knuutila
authors.forename: L
authors.initials: L
authors.lastname: Teerenhovi
authors.forename: M L
authors.initials: ML
authors.lastname: Larramendy
authors.forename: E
authors.initials: E
authors.lastname: Elonen
authors.forename: K O
authors.initials: KO
authors.lastname: Franssila
authors.forename: S J
authors.initials: SJ
authors.lastname: Nylund
authors.forename: T
authors.initials: T
authors.lastname: Timonen
authors.forename: K
authors.initials: K
authors.lastname: Heinonen
authors.forename: E
authors.initials: E
authors.lastname: Mahlamäki
authors.forename: R
authors.initials: R
authors.lastname: Winqvist
mesh_terms: D001752:Blast Crisis / Q000235:genetics / Q000473:pathology; D002460:Cell Line; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D006689:Hodgkin Disease / Q000235:genetics; D006801:Humans; D007938:Leukemia / Q000235:genetics* / Q000473:pathology; D008223:Lymphoma / Q000235:genetics* / Q000473:pathology; D008533:Megakaryocytes / Q000473:pathology; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D016539:Reed-Sternberg Cells / Q000473:pathology; D013234:Stem Cells / Q000473:pathology; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured