title: Cytogenetic polyclonality in hematologic malignancies.
abstract: The present study was undertaken to ascertain the frequency of cytogenetic polyclonality in various hematologic malignancies and to investigate whether morphologic subgroup, age, gender, or previous genotoxic exposure influences the incidence. Among 2,243 cytogenetically investigated hematologic malignancies, 10 acute myeloid leukemias (AML), 5 myelodysplastic syndromes (MDS), 2 acute lymphoblastic leukemias (ALL), 1 acute undifferentiated leukemia (AUL), 1 atypical Philadelphia chromosome-negative (Ph-) chronic myeloid leukemia (CML), 1 chronic myeloproliferative disorder (CMD), and 1 chronic lymphoproliferative disorder (CLD) with karyotypically unrelated clones were identified, constituting 2.6% of AML, 1.6% of MDS, 0.8% of ALL, 13% of AUL, 9.1% of Ph- CML, 1.5% of CMD, and 2.8% of CLD with chromosomal abnormalities. In contrast to the cytogenetic features, the X-inactivation pattern was monoclonal in the two informative female patients that could be investigated. Among 17,733 karyotypically aberrant published cases surveyed, significant frequency differences (P < 0.001) were discerned: 1.7% of 6,526 AML, 3.4% of 2,391 MDS, 0.4% of 1,920 Ph+ CML, 2.9% of 856 CMD, 0.9% of 4,226 ALL, and 5.8% of 1,814 CLD displayed unrelated clones. The incidence of cytogenetic polyclonality did not differ significantly among the MDS, CMD, or ALL subgroups, between males and females, between children (< 16 years) and adults, or between B- and T-cell ALL, whereas the frequencies varied among the AML FAB types (P < 0.05), among the different CLD entities (P < 0.001), and between B- and T-cell CLD (P < 0.001). Furthermore, the incidence was higher in therapy-related AML and MDS than in de novo AML and MDS (P < 0.001 and P < 0.01, respectively).
authors.affiliation: Department of Clinical Genetics, Lund University Hospital, Sweden. bertil.johansson@klingen.lu.se
authors.forename: B
authors.initials: B
authors.lastname: Johansson
authors.forename: R
authors.initials: R
authors.lastname: Billström
authors.forename: K
authors.initials: K
authors.lastname: Broberg
authors.forename: T
authors.initials: T
authors.lastname: Fioretos
authors.forename: P G
authors.initials: PG
authors.lastname: Nilsson
authors.forename: T
authors.initials: T
authors.lastname: Ahlgren
authors.forename: C
authors.initials: C
authors.lastname: Malm
authors.forename: B O
authors.initials: BO
authors.lastname: Samuelsson
authors.forename: F
authors.initials: F
authors.lastname: Mitelman
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D002999:Clone Cells; D005260:Female; D019337:Hematologic Neoplasms / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping / Q000379:methods; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics; D012737:Sex Factors