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MLLT10 and IL3 rearrangement together with a complex four-way translocation and trisomy 4 in a patient with early T-cell precursor acute lymphoblastic leukemia: A case report

Cytogenetic classification of acute lymphoblastic leukemia (ALL) is primarily based on numerical and structural chromosomal abnormalities. In T-cell ALL (T-ALL), chromosomal rearrangements are identified in up to 70% of the patients while the remaining patients show a normal karyotype. In the present study, a 16-year-old male was diagnosed with T-precursor cell ALL and a normal karyotype after standard GTG-banding, was studied retrospectively (>10 years after diagnosis) in frame of a research project by molecular approaches. In addition to molecular cytogenetics, multiplex ligation-dependent probe amplification (MLPA) and high resolution array-comparative genomic hybridization (aCGH) were also applied. Thus, the following yet unrecognized balanced chromosomal aberrations were detected: der(3)t(3 ; 5)(p23 ; q31.1), der(5)t(3 ; 5)(p23 ; q35.3), der(5)t(5 ; 10) (q31.1 ; p12.3) and der(10)t(5 ; 10)(q35.3 ; p12.3). The oncogene MLLT10 was involved in this rearrangement as was the IL3 gene ; in addition, trisomy 4 was present. All of these clonal aberrations were found in 40% of the cells. Even if this complex karyotype would have been identified at the time of diagnosis, most likely no other protocol of anticancer therapy (ALL-BEM 95) would have been applied. Three months after the end of a successful 2- year treatment, the patient suffered from isolated bone marrow relapse and died of sepsis during ALL-REZ-BFM protocol treatment.

early T-cell precursor acute lymphoblastic leukemia ; molecular cytogenetics ; MLLT10 ; IL3 ; array-CGH

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