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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 (P=0.034, P=0.036) . The p16 gene deletion patients showed no significant differences in MMR, CMR and relapse rate between Imatinib or Dasatinib plus chemotherapy (P>0.05) . Deletion of p16 gene was significantly associated with poor outcomes including worse overall survival (OS) (37.1% vs 54.1%, P=0.037) , lower disease free-survival (DFS) (12.4% vs 45.9%, P=0.026) , and increased cumulative incidence of relapse (P=0.033) . Among the 25 patients with p16 deletion, 14 underwent allo-HSCT and the median survival was 21 months, better than that of patients received chemotherapy alone (12 months) (P=0.030) .@*Conclusion@#This study indicated that deletion of p16 was associated with poor prognosis in adult Ph+ ALL, and the utility of second-generation TKI (Dasatinib) does not necessarily have an edge on efficacy over Imatinib, but allo-HSCT has the potential of elongating life expectancy. It is an important significance to define the status of p16 in Ph+ ALL for predicting prognosis and guiding therapy decision-making.
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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 (χ2=168.21, P<0.001) and ABL tyrosine point mutations (χ2=29.04, P<0.001) . Newly diagnosed CML-CP patients with t (9;22) (q34;q11) had a longer event-free survival (EFS) and disease-free survival (DFS) rates than that of patients with ACA (P=0.037; P=0.003) , while the overall survival (OS) had no significant differences (P=0.209) . As for CML-CP patients that occurred ACA during TKI therapy would have a marked low OS, EFS and DFS (all P<0.001) compared with no ACA occurred patients. Survival of advanced patients that occurred ACA were dramatically reduced.@*Conclusion@#ACA often emerged during the disease progress in CML patients, regular and timely detection of chromosomes karyotype and ABL tyrosine point mutations during TKI treatment was important for therapeutic evaluation, progress and prognosis of CML.
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@#Objective To explore the phonological characteristics of lateral misarticulation in children with functional articulation disor-ders and the rehabilitation approaches for them. Methods From June, 2013 to December, 2014, 44 children with lateral misarticulation were assessed and the phonological characteristics of lateral misarticulation were analyzed. They accepted targeted rehabilitation training. The cor-relation was analyzed between lateral misarticulation and age as well as severity of disorder. Results The frequency of lateral misarticulation was the most in Blade-palatals (75.00%), and then the dentals (65.91%), lingua-palatals (56.82%) and blade-alveolar consonant (20.45%). Thirty-eight cases were cured and 4 cases improved after 1 to 5 courses of rehabilitation. The overall cure rate was 86.36%(38/44), and it was 100%(11/11), 86.67%(13/15), 77.78%(14/18) in those with mild, moderate and severe disorder, respectively. There was no significant correlation between lateral misarticulation and age (r=0.100, P=0.752) as well as severity (r=0.257, P=0.092). Conclusion Lateral misarticu-lation in children with functional articulation disorders mainly occurs on blade-palatals, dentals and lingua-palatals. The targeted speech re-habilitation training is beneficial.
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Objective To explore the clinical characteristics of lateral misarticulation. Methods 39 patients with lateral misarticulation were recruited. Their articulation was recorded by the computer speech lab according to the Putonghua syllable chart of the collocation of consonants and vowels, then the recording materials were analyzed. Results 22 cases with lateral misarticulation were on both sides, 14 cas-es were on the right side and 3 cases on the left side. Lateral misarticulation mainly occurred in consonants with the highest incidence in/z/,/c/,/s/,/zh/,/ch/,/sh/,/j/,/q/and/x/. There were two or more release bursts in the spectrogram of lateral misarticulation. There was no signifi-cant correlation between the number of lateral misarticulation and age (r=0.110, P=0.507). Conclusion Lateral misarticulation mainly oc-curs in supradental, blade-palatal and lingua-palatal phoneme. The time-domain waveform diagram and spectrogram are helpful for the diag-nosis of lateral misarticulation. Lateral misarticulation should be corrected in time.
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Objective To discuss the clinical features and speech training of bilabial consonant articulation disorders. Methods 92 pa-tients with functional articulation disorders (FAD) and 85 patients repaired cleft palate were studied. Then 20 patients with bilabial conso-nant articulation disorders were selected respectively from two types of patients for speech training. Results FAD patients who replaced/p/with/b/accounted for 78.8%in patients with bilabial consonant articulation disorders, and the patients repaired cleft palate dropped or re-placed/b/accounted for 30.2%and 60.4%respectively. Both types of the patients with bilabial consonant articulation disorders made less mistakes after speech training (P<0.001). Conclusion Bilabial consonant articulation disorders mainly show unaspirated about/p/in FAD patients, and show dropping and replacement about/b/in the patients repaired cleft palate. The speech training is significantly effective.