Contents lists available at ScienceDirect Gene Reports journal homepage: www.elsevier.com/locate/genrep Unreported combination of rearrangements in a childhood B-cell acute lymphoblastic leukemia case: Coexistence of translocation t(8;14) and monoallelic loss of tumor suppressor gene TP53 Abdulsamad Wafa a , Belal Ali b , Abdulmunim Aljapawe c , Thomas Liehr d , Suher ALmedani a , Walid Al Achkar a, ⁎ a Molecular Biology and Biotechnology Department, Human Genetics Div., Chromosomes Lab., Atomic Energy Commission, P.O. Box 6091, Damascus, Syria b Pediatric Oncologist Master Degree, Damascus Children University Hospital, Ministry of High Education, Damascus, Syria c Molecular Biology and Biotechnology Department, Mammalians Biology Div., Flow-cytometry Lab., Atomic Energy Commission of Syria, P.O. Box 6091, Damascus, Syria d Jena University Hospital, Institute of Human Genetics, Am Klinikum 1, D-07747 Jena, Germany ARTICLE INFO Keywords: Acute lymphoblastic leukemia (ALL) Translocation t(8;14) Monoallelic loss TP53 Intercontinental Berlin-Frankfurt-Münster (IC- BFM 2002) chemotherapy Prognostic factors ABSTRACT Introduction: B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a clinically and biologically hetero- geneous disease resulting from the accumulation of genetic alterations in B lymphoid precursor cells, and re- presents the most common malignant hematopoietic disease in childhood. Approximately 75% of BCP-ALL cases harbor a recurrent chromosomal alteration detectable by banding cytogenetic approaches. Some of these re- current abnormalities define ALL subgroups and are used for risk stratification. However, coexistence of two normally independent, primary genetic aberrations within the same clone is rare in ALL. Case presentation: Here we report an 8-year-old Syrian boy with B-ALL. He presented at diagnosis with two cytogenetic events, yet unreported to appear in common, i.e. a reciprocal translocation t(8;14) leading to cMYC/ IGH gene fusion, and monoallelic loss of tumor suppressor gene TP53. This patient received treatment with prednisolone according to ALL Intercontinental Berlin-Frankfurt-Münster (IC-BFM) 2002 chemotherapy protocol but he relapsed early. Bone marrow and central nervous system were finally involved and he died within 6 months after initial diagnosis due to intracranial hemorrhage. Conclusion: The reported combination of aberrations in a childhood case of BCP-ALL here seems to indicate an adverse prognosis, and shows that otherwise independent predictive chromosomal aberrations may arise also together. 1. Introduction Accumulation of genetic alterations in B lymphoid precursor cells is a hallmark of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) which presents otherwise as a clinically and biologically heterogeneous disease. BCP-ALL is the most common malignant hematopoietic disease in childhood (Mullighan et al., 2007; Pui et al., 2004). BCP-ALL patients have a favorable prognosis with an overall complete remission rate of 90% for children and adolescent between 1 and 15 years; this is valid especially for cytogenetic subgroups with good prognosis (Perez- Andreu et al., 2015). Approximately 75% of BCP-ALL cases harbor re- current chromosomal alterations detectable by banding cytogenetics and can be used to define ALL subgroups and for risk stratification (Mullighan, 2012; Moorman et al., 2007). Recurrent chromosomal abnormalities (CAs) are typical for all malignancies; one can distinguish primary from secondary CAs. Primary CAs are such which normally appear early during the course of a disease and are used to define subgroups of a malignancy. Secondary CAs are such which can be observed additionally besides primary ones and are not or less important for subgroup definition and risk stratifi- cation. The most relevant examples for primary CAs in BCP-ALLs with prognostic impact are the translocation t(12;21)(p13;q22)/ ETV6–RUNX1, and hyperdiploidy; both aberrations are reported in about 50% of the pediatric BCP-ALL patients and are associated with a good outcome in younger patients (Moorman et al., 2010). Philadelphia (Ph) chromosome or BCR-ABL1 gene fusion and MLL rearrangements are recurrent primary CAs more frequently reported in older children and adult patients, and both are associated with poor prognosis. An- other primary CA is the translocation t(8;14)(q24;q11) (cMYC/IGH); https://doi.org/10.1016/j.genrep.2017.11.005 Received 22 June 2017; Received in revised form 1 November 2017; Accepted 15 November 2017 ⁎ Corresponding author. E-mail addresses: Thomas.Liehr@med.uni-jena.de (T. Liehr), ascientific@aec.org.sy (S. ALmedani), ascientific@aec.org.sy (W. Al Achkar). Gene Reports 10 (2018) 66–70 2452-0144/ © 2017 Elsevier Inc. All rights reserved. T