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Original research
Cytogenetic complexity and heterogeneity in intravascular lymphoma
  1. Kohei Fujikura1,2,
  2. Daisuke Yamashita1,
  3. Makoto Yoshida1,
  4. Takayuki Ishikawa3,
  5. Tomoo Itoh2,
  6. Yukihiro Imai1
  1. 1 Department of Pathology, Kobe City Medical Center General Hospital, Kobe, Japan
  2. 2 Department of Diagnostic Pathology, Kobe University Graduate School of Medicine, Kobe, Japan
  3. 3 Department of Hematology, Kobe City Medical Center General Hospital, Kobe, Japan
  1. Correspondence to Dr Kohei Fujikura, Department of Pathology, Kobe City Medical Center General Hospital, Kobe, Japan; kfuji{at}med.kobe-u.ac.jp

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.

  • intravascular lymphoma
  • cytogenetic abnormality
  • karyotype
  • G-band
  • gene rearrangement
  • prognosis

https://doi.org/10.1136/jclinpath-2020-206573

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    Footnotes

    • Handling editor Mary Frances McMullin.

    • Contributors KF designed the study, performed the experiments and wrote the manuscript. KF, TItoh and YI were responsible for the final pathological diagnosis. DY and MY contributed to analysing the clinical information. TIshikawa was responsible for the clinical data. All authors read and approved the final manuscript.

    • Funding This study was supported by the Kasahara Cancer Research Fund (H28 to KF), the JSPS KAKENHI Grant-in-Aid for Scientific Research in Japan (16K19081 and 18K15081 to KF), and the internal funding in KCGH.

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Ethics approval This study was approved by Kobe City Medical Center General Hospital (KCGH) Institutional Review Board in 2016.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information. The datasets generated and/or analysed during the current study are available from the corresponding author on reasonable request.