Cytogenetic complexity and heterogeneity in intravascular lymphoma

J Clin Pathol. 2021 Apr;74(4):244-250. doi: 10.1136/jclinpath-2020-206573. Epub 2020 Aug 6.

Abstract

Aims: To characterise the karyotypic abnormalities and heterogeneities in intravascular lymphoma (IVL).

Methods: G-banded karyotyping was performed on biopsy specimens from a single-centre IVL cohort comprising intravascular large B-cell lymphoma (IVLBCL, n=12) and NK/T-cell lymphoma (IVNKTCL, n=1).

Results: Five IVLBCL cases and one IVNKTCL case (total 46%) were found to have normal karyotypes, and the cytogenetic abnormalities observed in the other seven IVLBCL cases (54%) were investigated further. These seven karyotypes were uniformly complex with an average of 13 aberrations. The seven cases all had abnormalities involving chromosome 6, with 57% involving structural abnormalities at 6q13, and chromosome 8, with 43% involving abnormalities at 8p11.2. In addition, 71% had aberrations at 19q13. On average, 4.4 chromosomal gains and losses were detected per case. Cytogenetic heterogeneities were observed in six cases (86%) and tetraploidy in three cases (43%). There was no significant difference in progression-free survival (p=0.92) and overall survival (p=0.61) between the IVLBCL cases with complex and normal karyotypes.

Conclusion: Approximately half of IVLBCL cases had a highly heterogeneous pattern of karyotypes with different clonal numerical and structural chromosome aberrations.

Keywords: G-band; cytogenetic abnormality; gene rearrangement; intravascular lymphoma; karyotype; prognosis.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / genetics*
  • Chromosome Aberrations*
  • Female
  • Genetic Heterogeneity*
  • Genetic Predisposition to Disease
  • Humans
  • Karyotype
  • Karyotyping
  • Lymphoma, Extranodal NK-T-Cell / genetics*
  • Lymphoma, Extranodal NK-T-Cell / mortality
  • Lymphoma, Extranodal NK-T-Cell / pathology
  • Lymphoma, Extranodal NK-T-Cell / therapy
  • Lymphoma, Large B-Cell, Diffuse / genetics*
  • Lymphoma, Large B-Cell, Diffuse / mortality
  • Lymphoma, Large B-Cell, Diffuse / pathology
  • Lymphoma, Large B-Cell, Diffuse / therapy
  • Male
  • Middle Aged
  • Phenotype
  • Progression-Free Survival
  • Vascular Neoplasms / genetics*
  • Vascular Neoplasms / mortality
  • Vascular Neoplasms / pathology
  • Vascular Neoplasms / therapy

Substances

  • Biomarkers, Tumor