case_images: PMC8044795_01
case_images: (A) Morphology of leukemic cells at diagnosis(original magnification, 1000). (B) Flow cytometry result. (C) Karyotype analysis showed 46, XX, del(12)(p11)[19]/46, XX[1]. (D) Drug sensitivity screening test in vitro with a panel of 165 kinds of cytotoxic drugs, molecular targeted therapy drugs, and combination chemotherapy regimens. Relative inhibition rates higher than 30% were listed. (E) Chest CT showed an enlarged thymus. (F) Survival analysis of all 38 evaluable T-ALL patients with SET-CAN/NUP214 fusion. (G) HSCT significantly improved overall survival of T-ALL patients with SET-CAN/NUP214 patient compared with chemotherapy.
case_images: fonc-11-651494-g001.jpg
case_images: PMC8044795_01_fonc-11-651494-g001.jpg
case_images: f1
case_images: Bone marrow aspiration was performed and revealed hypercellularity with predominant blasts in accordance with L2-type ALL (Figure 1A). Flow cytometry (Figure 1B) showed that the blasts (P3 group, 92.1%) were mainly positive for CD7, CD38 and CD2; partially positive for CD117, cCD3, CD99, and CD5; weakly positive for CD34 and CD10; and negative for CD33, CD19, CD56, cMPO, cCD79a, CD1a, CD25, HLA-DR, CD15, CD13, cTdT, CD123, CD3, CD8, and CD4, indicating a diagnosis of early T-cell precursor (ETP)-ALL. Karyotyping analysis of the peripheral blood illustrated that the patient had a 46, XX, del(12)(p11)[19]/46,XX[1] karyotype[20] (Figure 1C). Chest CT showed thymus enlargement (Figure 1D), which is a common phenomenon in T-ALL suggesting a possible involvement by leukemia. Those treatments that achieved an inhibition rate higher than 30% are listed in Figure 1E. The patient received the DAE scheme (daunorubicin 40mg/m2 day 1st-3rd + cytarabine 100mg/m2 day 1st-7th + etoposide 100mg/m2 day 1st -5th), which showed highest ex vivo inhibition rate of 45.19%, and ultimately achieved complete remission with only 0.64% residual leukemia cells detected by flowcytometry. Then a sequential consolidation chemotherapies of EAD scheme (etoposide 100mg/m2 day 1st -3rd + cytarabine 3g Q12H day 1st -3rd +dexamethasone 30mg day 1st -3rd), and