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.
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).
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany.
Moneeb A K
MA
Othman
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany ; Croatian Institute of Brain Research, Salata 12, 10000 Zagreb, Croatia.
Martina
M
Rincic
Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Azinhaga Santa Comba, Polo Ciências da Saúde, 3000-548 Coimbra, Portugal ; Centro de Investigação em Meio Ambiente, Genética e Oncobiologia (CIMAGO), Rua Larga, 3004-504 Coimbra, Portugal.
Joana B
JB
Melo
Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Azinhaga Santa Comba, Polo Ciências da Saúde, 3000-548 Coimbra, Portugal ; Centro de Investigação em Meio Ambiente, Genética e Oncobiologia (CIMAGO), Rua Larga, 3004-504 Coimbra, Portugal.
Isabel M
IM
Carreira
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany.
Eyad
E
Alhourani
Jena University Hospital, Friedrich Schiller University, Department of Internal Medicine II (Oncology and Hematology), 07749 Jena, Germany.
Friederike
F
Hunstig
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany.
Anita
A
Glaser
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany.
Thomas
T
Liehr