A pediatric BAL case with double Ph chromosomes and trisomy 5

Cancer Genet. 2021 Nov:258-259:7-9. doi: 10.1016/j.cancergen.2021.06.005. Epub 2021 Jun 22.

Abstract

Biphenotypic acute leukemias (BAL) are known as a type of leukemia involving cells with myeloid and along with lymphoid origin, in which genomic changes are detected. It has been stated that the most common genomic changes in BAL are t(9;22) and the translocations of the 11q23 region, these anomalies cause poor prognostic effects. We detected trisomy 5 (+5) in addition to the double Ph chromosome in a case where we investigated the genomic changes using molecular and conventional cytogenetic methods. Bone marrow transplantation was planned due to the poor response to prednisone. According to the information we have obtained, our report will be the first article to discuss the aberrations found in addition to the Ph chromosome in BAL and the effect of these aberrations on prognosis. However, the double observation of the Ph chromosome, which has a poor prognostic effect, is expected to affect the prognosis more negatively, this case will contribute to the literature in terms of trisomy 5. We think that more case reports are needed to reveal the anomalies and their prognostic significance in BAL.

Keywords: BAL; Cytogenetics; FISH; Trisomy 5.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 5 / genetics
  • Cri-du-Chat Syndrome / genetics*
  • Gene Rearrangement*
  • Humans
  • Leukemia, Biphenotypic, Acute / genetics*
  • Leukemia, Biphenotypic, Acute / pathology*
  • Male
  • Philadelphia Chromosome*
  • Prognosis
  • Trisomy / genetics*

Supplementary concepts

  • Chromosome 5, trisomy 5q