TY  - JOUR
AU  - Ikhtiar, Adnan
AU  - AL-ACHKAR, Walid
AU  - Liehr, Thomas
AU  - As’sad, Manar
AU  - Wafa, Abdulsamad
PY  - 2019
DA  - 2019/06/20
TI  - A De Novo Childhood Case of T-cell Lymphoblastic Leukemia with High Hyperdiploid Karyotype Carrying an Unreported Balanced Translocation t(X;5)(q26;q31.3~32) in A Male Patient
JO  - OBM Genetics
SP  - 081
VL  - 03
IS  - 02
AB  - Background: The aggressive T-cell acute lymphoblastic leukemia (T-ALL) is one of the frequently occurring malignancies of the thymocytes. T-ALL is observed in 15% and 25% of all new diagnosed ALL cases in children and adults, respectively. Notably, T-ALL has a 3-fold higher incidence in males than in females. In nearly half of T-ALL cases, structural and/or numerical chromosomal abnormalities are detected, which have an important prognostic significance. A well-known genetic subtype of B-ALL, high hyperdiploidy (HeH) (51-65 chromosomes) is associated with good survival and an excellent outcome. The commonly acquired chromosomes in HeH are +4, +6, +10, +14, +17, +18, +21 and +X. However, how chromosomal gains evolve and their roles in ALL, in general, are still far from being understood.
Methods: Banding cytogenetics, molecular cytogenetics applying whole chromosome paints (WCP), array-proven multicolor banding (aMCB), and immunophenotyping on patient's bone marrow cells were performed.
Results: A HeH karyotype including a balanced translocation t(X;5) was detected, which is classified as a de novo childhood cortical-T-ALL case, according to the World Health Organization (WHO) guidelines.
Conclusions: This is the first report of a childhood T-ALL case associated with HeH karyotype. Although the involvement of cytoband Xq26 in disease-specific rearrangements has already been reported, here, a corresponding aberration was observed for the first time in a male patient, suggesting a gender association, but not limited to this cytogenetic ALL subgroup.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.1902081
DO  - 10.21926/obm.genet.1902081
ID  - Ikhtiar2019
ER  -