1. Clinical significance of cytogenetic monitoring in chronic myeloid leukemia
Chengyun PAN ; Na XU ; Bolin HE ; Rui CAO ; Libin LIAO ; Changxin YIN ; Yangqing LAN ; Ziyuan LU ; Jixian HUANG ; Jin SUN ; Ru FENG ; Qifa LIU ; Xiaoli LIU
Chinese Journal of Hematology 2017;38(2):112-117
Objective:
To analyze the association of cytogenetic abnormalities with the prognosis of chronic myeloid leukemia (CML) patients in tyrosine kinase inhibitors (TKI) era.
Methods:
Karyotype analysis of chromosome G-banding was carried out in 387 newly diagnosed CML patients by short-term culture of bone marrow cells. The correlation of cytogenetic abnormalities and CML progression was explored in combination with ABL tyrosine point mutations.
Result:
Of 387 patients with positive BCR-ABL fusion gene assayed by fluorescence in situ hybridization (FISH) technique, 94.1% (364/387) patients were Ph positive and 5.9% (23/387) Ph negative; 320 patients (87.9%) had a translocation t (9;22) (q34;q11) and 5 (1.4%) a variant translocation t (v;22) . Additional cytogenetic aberrations (ACA) at diagnosis were found in 10.7% (39/387) Ph+ patients, major route ACA in 22 (56.4%) cases and minor route ACA in 15 (38.5%) cases and 2 patients (5.1%) lacked the Y chromosome (−Y) ; 23.4% (71/303) patients occurred ACA during TKI treatment and the most frequent abnormalities were abnormal chromosome numbersd, which were likely associated with high proportion of disease progression (
2. Clinical analysis of adult Philadelphia chromosome-positive acute lymphoblastic leukemia with p16 gene deletion
Bolin HE ; Na XU ; Yuling LI ; Chengyun PAN ; Rui CAO ; Libin LIAO ; Changxin YIN ; Yangqing LAN ; Ziyuan LU ; Jixian HUANG ; Hongsheng ZHOU ; Qifa LIU ; Xiaoli LIU
Chinese Journal of Hematology 2017;38(3):204-209
Objective:
To investigate the clinical implications of p16 gene deletion in adult Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) .
Methods:
Retrospective analysis of clinical, immunophenotypic, cytogenetics, molecular characteristics and prognosis of 80 newly diagnosed Ph+ ALL patients with p16 deletion.
Results:
Of 80 adult Ph+ ALL, the prevalence of p16 gene deletion was 31.3%. p16 gene deletion carriers frequently accompanied with high WBC counts (WBC≥30×109/L) and CD20 expression. The incidence of complex chromosome abnormality in p16 gene deletion group was higher than that in non-deletion group, with alternations in chromosome 7, 8, 19 and der (22) more frequently observed. There was no difference occurred between patients with or without p16 gene deletion in complete remission (CR) rate following induction chemotherapy combined with tyrosine kinase inhibitors (TKIs) . However, after three cycles of chemotherapy, the MMR and CMR rate in the p16 gene deletion group was lower than patients with wild-type p16 gene (