BACKGROUND BCR-ABL1 fusion gene is associated with a poor prognosis and a high incidence in central nervous system(CNS)leukemia.CNS invasion which detected at the initial diagnosis is commonly with bone marrow infiltr...BACKGROUND BCR-ABL1 fusion gene is associated with a poor prognosis and a high incidence in central nervous system(CNS)leukemia.CNS invasion which detected at the initial diagnosis is commonly with bone marrow infiltration.It is uncommon for the leukemia cells to be located primarily in the CNS without bone marrow involvement.CASE SUMMARY We here report the rare initial presentation of CNS-restricted BCR-ABL-positive acute lymphoblastic leukemia in a 30-year-old female patient who clinically manifested with leukemic meningitis,with no involvement in peripheral blood or bone marrow.Identification of abnormal phenotypes of blast cells,and BCR-ABL1 rearrangement in the cerebrospinal fluid alone established the diagnosis of primary CNS-isolated acute lymphocytic leukemia.The patient received a combination of intrathecal therapy and high-dose chemotherapy.But the benefits of the treatments were short-lived and she experienced recurrence.CONCLUSION Flow cytometry in combination with molecular genetic analysis improved diagnostic accuracy.New approaches that may enhance the efficacy of the existing therapies and cure CNS leukemia are required.展开更多
Several cases such as myeloproliferative neoplasms(MPN)with the coexistence of JAK2 and BCR-ABL have been reported.However,cases of transformation of essential thrombocythemia(ET)into chronic myeloid leukemia(CML)duri...Several cases such as myeloproliferative neoplasms(MPN)with the coexistence of JAK2 and BCR-ABL have been reported.However,cases of transformation of essential thrombocythemia(ET)into chronic myeloid leukemia(CML)during the disease progression were rarely reported.Here,we report the case of a patient with JAK2 V617F-positive ET who subsequently acquired BCR–ABL1,which transformed the disease into CML after 10 years from the initial diagnosis.In this study,we dynamically monitored JAK2 V617F and BCR-ABL and observed multiple gene mutations,including IDH2,IDH1,ASXL1,KRAS,and RUNX1.It is important to be aware of this potentially clone evolution in disease progression.展开更多
基金Supported by the Science and Technology Plan Guide Project of Fujian Province,No.2019D009.
文摘BACKGROUND BCR-ABL1 fusion gene is associated with a poor prognosis and a high incidence in central nervous system(CNS)leukemia.CNS invasion which detected at the initial diagnosis is commonly with bone marrow infiltration.It is uncommon for the leukemia cells to be located primarily in the CNS without bone marrow involvement.CASE SUMMARY We here report the rare initial presentation of CNS-restricted BCR-ABL-positive acute lymphoblastic leukemia in a 30-year-old female patient who clinically manifested with leukemic meningitis,with no involvement in peripheral blood or bone marrow.Identification of abnormal phenotypes of blast cells,and BCR-ABL1 rearrangement in the cerebrospinal fluid alone established the diagnosis of primary CNS-isolated acute lymphocytic leukemia.The patient received a combination of intrathecal therapy and high-dose chemotherapy.But the benefits of the treatments were short-lived and she experienced recurrence.CONCLUSION Flow cytometry in combination with molecular genetic analysis improved diagnostic accuracy.New approaches that may enhance the efficacy of the existing therapies and cure CNS leukemia are required.
文摘Several cases such as myeloproliferative neoplasms(MPN)with the coexistence of JAK2 and BCR-ABL have been reported.However,cases of transformation of essential thrombocythemia(ET)into chronic myeloid leukemia(CML)during the disease progression were rarely reported.Here,we report the case of a patient with JAK2 V617F-positive ET who subsequently acquired BCR–ABL1,which transformed the disease into CML after 10 years from the initial diagnosis.In this study,we dynamically monitored JAK2 V617F and BCR-ABL and observed multiple gene mutations,including IDH2,IDH1,ASXL1,KRAS,and RUNX1.It is important to be aware of this potentially clone evolution in disease progression.
