[HTML][HTML] The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse
OR Bandapalli, S Schuessele, JB Kunz, T Rausch… - …, 2014 - ncbi.nlm.nih.gov
OR Bandapalli, S Schuessele, JB Kunz, T Rausch, AM Stütz, N Tal, I Geron, N Gershman…
haematologica, 2014•ncbi.nlm.nih.govT-cell acute lymphoblastic leukemia (T-ALL) is an aggressive malignancy of thymocytes that
accounts for approximately 15% of pediatric acute lymphoblastic leukemias. A variety of
genetic events affecting cellular processes such as the cell cycle, differentiation and survival
have been identified in T-ALL and result in uncontrolled cell growth, developmental arrest
and clonal expansion of T cells. Aberrant interleukin 7 receptor (IL7R)/Janus activated
kinase (JAK)-signaling by either activating somatic mutations of the IL7R gene1, 2 or by …
accounts for approximately 15% of pediatric acute lymphoblastic leukemias. A variety of
genetic events affecting cellular processes such as the cell cycle, differentiation and survival
have been identified in T-ALL and result in uncontrolled cell growth, developmental arrest
and clonal expansion of T cells. Aberrant interleukin 7 receptor (IL7R)/Janus activated
kinase (JAK)-signaling by either activating somatic mutations of the IL7R gene1, 2 or by …
T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive malignancy of thymocytes that accounts for approximately 15% of pediatric acute lymphoblastic leukemias. A variety of genetic events affecting cellular processes such as the cell cycle, differentiation and survival have been identified in T-ALL and result in uncontrolled cell growth, developmental arrest and clonal expansion of T cells.
Aberrant interleukin 7 receptor (IL7R)/Janus activated kinase (JAK)-signaling by either activating somatic mutations of the IL7R gene1, 2 or by activating mutations in JAK33 have been described in approximately 20% of pediatric T-ALL. Deletions or inactivating mutations of the protein phosphatase PTPN2 gene result in increased STAT5 phosphorylation in 6% of adults with T-ALL. 4 Less commonly, activating mutations of JAK1 have also been found in T-cell leukemias. 5
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