Abstract
Although childhood T-cell acute lymphoblastic leukemia (T-ALL) is a high-risk disease the outcome can vary considerably. The varying outcomes suggest that unrecognized factors may contribute to disease progression. We report on a 2-year-old T-ALL patient presenting with a very short history of constipation and extreme hyperleukocytosis (WBC 882×109/L). In her leukemic cells we detected the very rare translocation t(7;19)(q35;p13) and LYL1 overexpression. Additionally, we detected submicroscopic deletions at 4q25, 7q33 and 10q23 by oligo-aCGH analysis. We suggest that LYL1 overexpression contributed to the leukemic state and propose that the observed microdeletions may have influenced to the rapid disease progression.
Highlights
T-cell acute lymphoblastic leukemia (T-ALL) is a heterogeneous disease, accounting for 10–15% of childhood ALLs, reviewed in [1]
Hyperleukocytosis is arbitrary defined as WBC count greater than 100 Â 109/L
The critical WBC count seems different in different leukemias
Summary
T-ALL is a heterogeneous disease, accounting for 10–15% of childhood ALLs, reviewed in [1]. The disease is less common in young children, and presents with a median WBC count of 75 Â 109/L. Cytogenetic abnormalities are seen in approximately 50% of T-ALL patients. Cryptic translocations and deletions, involving e.g. TLX3 and TAL1, can be detected by FISH. Translocations involving the T-cell receptor loci are found in approximately 35% of T-ALL. Aberrant expression of one or more transcription factors, such as for example TAL1, TAL2, LYL1, OLIG2, MYC and LMO1/2, is a critical component of the molecular pathogenesis of T-ALL. Activating NOTCH1 mutations are present in the majority of T-ALL cases
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