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Title: A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome
Authors: Wafa, Abdulsamad
Jarjour, Rami A
Alolabi, Doaa
Liehr, Thomas 
Hamdan, Othman
Melo, Joana B. 
Carreira, Isabel M. 
Othman, Moneeb A. K. 
Al-Achkar, Walid
Keywords: Acute lymphoblastic leukemia (ALL); Complex karyotype (CK); Molecular cytogenetics; Array comparative genomic hybridization (aCGH); Tumor lysis syndrome (TLS); Prognostic factors
Issue Date: 2020
Publisher: Springer Nature
Serial title, monograph or event: Molecular Cytogenetics
Volume: 13
Issue: 1
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.
ISSN: 1755-8166
DOI: 10.1186/s13039-020-00512-3
Rights: openAccess
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais

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