B-lymphoblastic leukemia/lymphoma with MYC and BCL2 gene rearrangements shows evidence for clonal evolution and mitotic recombination.

Autor: Schichman SA; Central Arkansas Veterans Healthcare System, Pathology and Laboratory Medicine Service, and Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA. schichmanstevena@uams.edu., Penton AL; Cytogenetics Department, Laboratory Corporation of America, Research Triangle Park, NC, USA., Ghanta SN; Department of Internal Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Konda M; Department of Internal Medicine, Division of Hematology and Oncology, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Papenhausen PR; Cytogenetics Department, Laboratory Corporation of America, Research Triangle Park, NC, USA.
Jazyk: angličtina
Zdroj: Journal of hematopathology [J Hematop] 2023 Jun; Vol. 16 (2), pp. 111-117. Date of Electronic Publication: 2023 Apr 20.
DOI: 10.1007/s12308-023-00541-y
Abstrakt: Background: B-lymphoblastic leukemia/lymphomas (B-ALL/LBL) are uncommon neoplasms that may be associated with a variety of cytogenetic and molecular changes. The mechanisms by which these changes arise have not been fully described.
Aims/purpose: This report describes an unusual case of B-ALL/LBL with complex clonal evolution that includes BCL2 and MYC gene rearrangements.
Methods: Immunophenotyping was performed by immunohistochemistry and flow cytometry. Traditional G-band karyotyping was accompanied by fluorescence in-situ hybridization (FISH) using break-apart and dual fusion probes. Single nucleotide polymorphisms were assessed using a high-density DNA microarray.
Results: The karyotype of the blasts showed reciprocal translocation of chromosomes 4 and 18, reciprocal translocation of chromosomes 8 and 14 with two copies of the oncogenic translocation derivative(14)t(8;14), and no normal chromosome 14. FISH studies showed complex IGH-BCL2 and IGH-MYC fusion signals.
Conclusions: A clonal evolution model involving multiple chromosomal translocations and mitotic recombination is postulated to account for the karyotype, FISH, and microarray results but leaves unresolved the exact order of the evolutionary changes.
(© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.)
Databáze: MEDLINE