Table 2.

Novel recurring genetic alterations occurring in T-progenitor ALL and their correlation with outcome

Gene name	Alteration	Frequency	Prognosis	Reference
NOTCH1	Sequence mutations	~50 % of T-ALL	Associated with favorable outcome in children	[89–92]
FBXW7	Sequence mutations	~20 % of T-ALL	Associated with favorable outcome in children	[78, 91, 92]
PTEN	Deletions or sequence mutations	6–8 % of T-ALL	Associated with poor response to chemotherapy and resistance to pharmacological inhibition of NOTCH1	[76, 93]
CDKN2A/B	Deletions	30–70 % of T-ALL	Associated with poor outcome in adult and children T-ALL	[94, 95]
CDKN1A	Deletions or sequence mutations	12 % of T-ALL	To be investigated	[84, 96]
6q15-16.1	Deletion	12 % of T-ALL	Associated with poor outcome	[84]
PHF6	Deletions or sequence mutations	16 % of pediatric T-ALL cases; 38 % of adult T-ALL cases	Associated with reduced overall survival	[85]
WT1	Frameshift mutations	13 % of pediatric T-ALL cases; 12 % of adult T-ALL cases	No association with outcome	[97, 98]
LEF1	Focal deletions or sequence mutations	15 % of pediatric T-ALL cases	Associated with younger age and a trend toward a better overall survival	[99]
JAK1	Sequence mutations	18 % of adult T-ALL cases	Associated with reduced disease-free survival and overall survival	[72]
FLT3	Internal tandem duplication	4 % of adult T-ALL cases; 3 % of pediatric T-ALL cases	No association with outcome	[81, 82]
PTPN2	Deletion	6 % of T-ALL	Down-regulation of PTPN2 expression results in prolonged survival of ALL-SIL cells after imatinib treatment	[100]