Table of Contents
Leukemia Research and Treatment
Volume 2014, Article ID 357123, 7 pages
Research Article

A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia

1Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany
2Croatian Institute of Brain Research, Salata 12, 10000 Zagreb, Croatia
3Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Azinhaga Santa Comba, Polo Ciências da Saúde, 3000-548 Coimbra, Portugal
4Centro de Investigação em Meio Ambiente, Genética e Oncobiologia (CIMAGO), Rua Larga, 3004-504 Coimbra, Portugal
5Jena University Hospital, Friedrich Schiller University, Department of Internal Medicine II (Oncology and Hematology), 07749 Jena, Germany

Received 25 July 2014; Revised 18 September 2014; Accepted 20 September 2014; Published 8 October 2014

Academic Editor: Daniela Cilloni

Copyright © 2014 Moneeb A. K. Othman et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Acute leukemia often presents with pure chromosomal resolution; thus, aberrations may not be detected by banding cytogenetics. Here, a case of 26-year-old male diagnosed with T-cell acute lymphoblastic leukemia (T-ALL) and a normal karyotype after standard GTG-banding was studied retrospectively in detail by molecular cytogenetic and molecular approaches. Besides fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and high resolution array-comparative genomic hybridization (aCGH) were applied. Thus, cryptic chromosomal aberrations not observed before were detected: three chromosomes were involved in a cytogenetically balanced occurring translocation t(2;9;18)(p23.2;p21.3;q21.33). Besides a translocation t(10;14)(q24;q11) was identified, an aberration known to be common in T-ALL. Due to the three-way translocation deletion of tumor suppressor genes CDKN2A/INK4A/p16, CDKN2B/INK4B/p15, and MTAP/ARF/p14 in 9p21.3 took place. Additionally RB1 in 13q14 was deleted. This patient, considered to have a normal karyotype after low resolution banding cytogenetics, was treated according to general protocol of anticancer therapy (ALL-BFM 95).