Fish evaluation of additional cytogenetic aberrations and hyperdiploidy in childhood Burkitt lymphoma

Beyond MYC rearrangement, Burkitt lymphoma (BL) often presents with additional aberrations. Biopsy touch imprints from 72 children with BL were tested with interphase fluorescence in-situ hybridization (i-FISH) for MYC, BCL2, BCL6, IGH, IGK and IGL rearrangements and copy-number aberrations involvin...

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Published inLeukemia & lymphoma Vol. 63; no. 3; pp. 551 - 561
Main Authors Avgerinou, Georgia, Stefanaki, Kalliopi, Liapis, Konstantinos, Kostopoulos, Ioannis V., Kossiva, Lydia, Tzoumaka-Bakoula, Chryssa, Pavlidis, Dimitris, Filippidou, Maria, Katsibardi, Katerina, Ampatzidou, Maria, Kattamis, Antonis, Polychronopoulou, Sophia, Mantzourani, Marina, Papadhimitriou, Stefanos I.
Format Journal Article
LanguageEnglish
Published United States Taylor & Francis 23.02.2022
Subjects
Burkitt lymphoma
Burkitt Lymphoma - diagnosis
Burkitt Lymphoma - genetics
Burkitt Lymphoma - pathology
children
Chromosome Aberrations
cytogenetics
FISH
Humans
hyperdiploidy
In Situ Hybridization, Fluorescence
Karyotyping
Neoplasm Recurrence, Local
FISH
cytogenetics
children
Burkitt lymphoma
hyperdiploidy
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Summary:Beyond MYC rearrangement, Burkitt lymphoma (BL) often presents with additional aberrations. Biopsy touch imprints from 72 children with BL were tested with interphase fluorescence in-situ hybridization (i-FISH) for MYC, BCL2, BCL6, IGH, IGK and IGL rearrangements and copy-number aberrations involving 1q21/1p32, 7cen/7q31, 9cen/9p21, 13q14/13q34 and 17cen/17p13. Diploid status deviations were investigated with chromosome enumeration probes. MYC rearrangement was demonstrated in all cases. Additional aberrations included +1q (21/72:29.2%), +7q (14/72:19.4%), 13q- (14/72:19.4%), 9p-(6/72:8.3%) and hyperdiploidy (6/72:8.3%). Advanced clinical stage IV, +7q and 9p- were associated with shorter overall survival, with stage IV and +7q retaining prognostic significance on multivariate analysis. No relapse or death was reported among the hyperdiploid cases. This i-FISH investigation provides information on the genetic profile of BL and may prove valuable for patients with no karyotype analysis. Demonstration of hyperdiploidy could evolve research on clonal evolution pathways and probably identify a subgroup of children with favorable prognosis.
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ISSN:1042-8194
1029-2403
DOI:10.1080/10428194.2021.1998480