Identification of JAK1 Mutation In 40 Cases of Adult Acute T Lymphoblastic Leukemia

This study was purposed to analyze the mutations of JAK1 in bone marrow cells from adult patients with newly-diagnosed T cell acute lymphoblastic leukemia (T-ALL).

The entire coding sequence of JAK1 in bone marrow mononuclear cells (MNCs) from 40 adult T cell ALL patients were screened by polymerase chain reaction (PCR) and direct sequencing, then the clinical features of JAK1 mutation positive patients were analyzed.

JAK1 mutations were identified in 5%(2/40) patients, one is point mutation, the other is insertion mutation, resulting in changes in amino acid sequences, and the two types of mutations are different from those mutations found before.

The JAK1 mutations were found in about 5% newly-diagnosed T cell acute lymphoblastic leukemia, which was lower than those report abroad.

No relevant conflicts of interest to declare.