Molecular Cytogenetics (Sep 2020)

A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome

  • Abdulsamad Wafa,
  • Rami A. Jarjour,
  • Doaa Alolabi,
  • Thomas Liehr,
  • Othman Hamdan,
  • Joana B. Melo,
  • Isabel M. Carreira,
  • Moneeb A. K. Othman,
  • Walid Al-Achkar

DOI
https://doi.org/10.1186/s13039-020-00512-3
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 6

Abstract

Read online

Abstract Background B cell precursor acute lymphoblastic leukemia (B-ALL) is the most common malignancy of childhood, with, after corresponding treatment, an overall complete remission rate of 90%. Approximately 75% of B-ALL cases harbor recurrent abnormalities, including so-called complex karyotypes (CK). Tumor lysis syndrome (TLS) is a metabolic abnormality which may arise during cancer therapy and also, extremely rarely, as spontaneous TLS before initiation of chemotherapy in patients with ALL. Case presentation Here we report a 9-year-old male, diagnosed with a de novo pre-B-ALL according to the WHO classification. Cytogenetic, molecular cytogenetic approaches and array comparative genomic hybridization analyses revealed a unique CK involving five chromosomes. It included four yet unreported chromosomal aberrations: a der(11)t(7;11)(p22.1;q24.2), a der(18)t(7;18)(q21.3;p11.22), del(11)(q24.2q25) and dup(18)(q11.1q23). Unfortunately, the patient died 3 months after the initial diagnosis. Conclusions To the best of our knowledge, a comparable childhood ALL case was not previously reported. Thus, the combination of the here seen chromosomal aberrations in childhood primary ALL seems to indicate for an extremely adverse prognosis.

Keywords