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Among the 126 patients who had no TP53 mutation at diagnosis, one (patient 36) acquired TP53 mutation at second relapse.
When relapse occurs in patients harboring the FLT3-ITD mutation at diagnosis, the mutation is present in most cases.
TP53 mutations were serially studied in 420 samples from 131 patients, including 5 patients with TP53 mutations and 126 patients without this mutation at diagnosis (Table 5).
On the other hand, only one (patient 107) of the 80 patients without ASXL1 mutation at diagnosis acquired novel ASXL1 mutation at the time of AML transformation.
On the other hand, among the 126 patients who had no TP53 mutation at diagnosis, 1 acquired a novel TP53 mutation at second relapse.
Another one patient (patient 108) with no detectable ASXL1 mutation at diagnosis by direct sequencing had in fact low level of ASXL1 mutant as shown by a more sensitive TA-cloning technique and the mutant expanded at disease progression.
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Most ASXL1-mutated patients (85%) had concurrent other gene mutations at diagnosis.
Current risk-adapted therapy in adult patients with AML is based on only a few prognostic markers, such as age, cytogenetic risk, and gene mutations at diagnosis.
Most of the AML patients harbouring Wnt inhibitors hypermethylation had concurrent Class II mutations at diagnosis.
Detection of ITD mutations at diagnosis is now a routine clinical practice to provide guidance of optimal treatment for AML patients.
Among the 108 patients with SFRP methylation as a whole, 92 (85.2%) showed concurrent molecular gene mutations at diagnosis; 60 had one gene mutation, 23 had two, 7 had three, and 2 patients had four mutations.
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