A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome
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CASE REPORT
A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome Abdulsamad Wafa1, Rami A. Jarjour1, Doaa Alolabi2, Thomas Liehr3, Othman Hamdan2, Joana B. Melo4,5, Isabel M. Carreira4,5, Moneeb A. K. Othman3 and Walid Al‑Achkar1*
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 meta‑ bolic abnormality which may arise during cancer therapy and also, extremely rarely, as spontaneous TLS before initia‑ tion 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 analy‑ ses 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: Acute lymphoblastic leukemia (ALL), Complex karyotype (CK), Molecular cytogenetics, Array comparative genomic hybridization (aCGH), Tumor lysis syndrome (TLS), Prognostic factors Background B-cell precursor acute lymphoblastic leukemia (B-ALL) is the most common malignancy of childhood, representing ~ 80% of ALL cases [1, 2]. B-ALL patients have a favorable prognosis with an overall complete remission rate of 90% for children and adolescents between 1 and 15 years of age [3]. About 60% of B-ALLs harbor recurrent chromosomal abnormalities (including numerical and structural changes), which are detectable by banding *Correspondence: [email protected] 1 Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria Full list of author information is available at the end of the article
cytogenetics. Those recurrent alterations can be used to define ALL specific subgroups, risk stratifying markers, predictors of clinical prognosis, and are essential for therapeutic planning, implementation of targeted therapy and sensitive monitoring of treatment response [4, 5]. In addition, targeted therapies have been developed for patients with BCR/ABL genes rearrangement; also immunochemotherapy has proven to be effective in those patients with a translocation t(8;14), t(8;22), or t(2;8) [6]. A complex karyotype (CK) has been generally classified as ≥ 3 unrelated (acquired) chromosomal abnormalities in a patients’ genome; CKs are pr
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