Clinical characteristics,immunophenotype,risk stratification and
cytogenetics abnormalities in pediatric CDKN2A-deleted ALL
Of 655 patients enrolled, CDKN2A deletion was presented in 111
cases(16.9%). The prevalence of CDKN2A gene deletion in B-ALL and T-ALL
was 14.6%(87/595) and 40.0%,respectively.In the
CDKN2A-deletedpatients,the median age at diagnosis was 7 years(range:0.6
to 14 years),male/female(M/F) ratio was 1.47/1.The median white blood
cell(WBC)
countswere35.2×109/L(range:0.7-565.8×109/L),63.1%(70/111)patients
had hepatosplenomegaly at diagnosis.
In our cohort,eighty-seven (78.4%) children were presented withB-cell
phenotype while 24(21.6%) children were identified asT-cell
phenotype.Based onCCLG-ALL 2015 risk stratification and bone marrow MRD
level during induction therapy,there were 35(31.5%),73(65.8%),3(2.7%)
case for standard group,
intermedium groupand high-risk
group,respectively.Our research showed the high proportion of
intermedium group in patients with CDKN2A deletion.
Cytogenetic and molecular analysis was available inall subjects and
exhibited 41 (42.3%) cases
hadco-occurrence
of fusion gene:TEL-AML1
(n=13,11.7%),BCR-ABL1(n=14,12.6%),E2A-PBX1(n=4,3.6%),SIL-TAL1(n=5,4.5%),P53(n=3,2.7%),MLLrearrangement(n=1,0.9%),E2A-HLF(n=1,0.9%),other
fusion gene(n=6,5.4%)(Fig.1A). n=40(46.9 %) B-ALL cases had
co-occurrence of fusion gene:TEL-AML1 (n=13,14.9%),BCR-ABL1
(n=14,16.1%),E2A-PBX1
(n=4,4.6%),P53(n=3,3.4%),E2A-HLF(n=1,1.1%),other fusion
gene(n=5,5.7%)(Fig. 1B).To further analyze the role of co-occurrence of
fusion gene in prognosis,n=17(15.3%) children were set to high risk
cytogenetic group,remaining n=94(84.7%) children were set to
intermediate cytogenetic group based on cytogenetic risk group as
mentioned above.Besides,12.4%(12/97) had co-occurrence ofIKZF1
deletion.Chromosomal abnormalities
was observed in 41 patients(36.9%) at diagnosis, including 10
cases(9.0%) with del(9)(p21) (Table 1).