engleski

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).

T-cell acute lymphoblastic leukemia (T-ALL); GTG-banding; fluorescence in situ hybridization (FISH); multiplex ligation-dependent probe amplification (MLPA); high resolution array-comparative genomic hybridization (aCGH); cryptic chromosomal aberrations

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