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Table 1 A comparison of the frequency of mutations and copy number variations (CNV) in the components of the PI3K/AKT/mTOR pathway in AML, T-ALL, and B-ALL

From: Outlook on PI3K/AKT/mTOR inhibition in acute leukemia

Mutations

 

Gene

Description

AML SNP

AML CNV

T -ALL SNP

B -ALL SNP

PI3K/AKT/mTOR

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

0% (228)

0.5% (188) loss

0% (20)

0% (9)

 

PIK3CB

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta

0% (228)

0.5% (188) loss

0% (20)

0% (9)

 

PIK3CD

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta

0% (228)

2.71% (188) gain, 0.5% (188) loss

0% (28)

0% (9)

 

PIK3CG

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma

0% (228)

9% (188) loss

0% (28)

0% (9)

 

PTEN

phosphatase and tensin homolog

0.48% (417)

1.1% (188) gain, 0.5% (188) loss

15.66% (862)

0% (81)

 

AKT1

v-akt murine thymoma viral oncogene homolog 1

0% (571)

1.1%, (188) gain, 2.7% (188) loss

1.9% (203)

0% (76)

 

AKT2

v-akt murine thymoma viral oncogene homolog 2

0% (228)

4.8% (188) gain

0% (22)

0% (9)

 

AKT3

v-akt murine thymoma viral oncogene homolog 3

0% (228)

2.1% (188) gain, 0.5% (188) loss

0% (20)

0% (9)

 

mTOR

mechanistic target of rapamycin (serine/threonine kinase)

0.44% (228)

2.71% (188) gain, 0.5% (188) loss

0% (20)

0% (9)

 

PI3KR1

phosphoinositide-3-kinase, regulatory subunit 1 (alpha)

0% (328)

0.5% (188) gain, 2.71% (188) loss

0.56% (178)

0% (58)

Receptors

TLR4

toll-like receptor 4

0.44% (228)

3.7% (188) gain, 0.5% (188) loss

0% (20)

0% (9)

 

NRAS

neuroblastoma ras viral oncogene

10.69% (4351)

1.1% (188) gain, 0.5% (188) loss

10.36% (502)

0% (818)

 

KRAS

phosphatase and tensin homolog

4.1% (2339)

1.6% (188) loss

1.75% (456)

10,36% (772)

 

EGFR

epidermal growth factor receptor

0.44% (229)

6.9% (188) loss

13.79% (29)

0% (9)

 

FLT3

fms-related tyrosine kinase 3

23.75% (62135)

1.6% (188) gain, 1.1% (188) loss

4,59% (740)

4,04% (792)

 

EPHA3

EPH receptor A3

0.44% (229)

2.7% (188) loss

0% (20)

0% (9)

 

ERBB4

v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4

0% (228)

0.5% (188) gain

0% (20)

0% (9)

 

PDGFRA

platelet-derived growth factor receptor, alpha polypeptide

1.02% (394)

2.1% (188) gain

11.54% (26)

0% (9)

 

EPHB6

EPH receptor B6

0% (228)

0.5% (188) gain, 10.6% (188) loss

0% (20)

0% (9)

 

FGFR2

fibroblast growth factor receptor 2

0% (228)

1.1% (188) gain

8.33% (24)

0% (9)

 

KIT

v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog

8.82% (5895)

2.1% (188) gain

0% (1)

0% (10)

 

FGFR3

fibroblast growth factor receptor 3

0% (228)

1.6% (188) gain, 2.1% (188) loss

23.33% (30)

0% (9)

  1. Frequency and cohort size are indicated. Mutational frequencies and CNVs were obtained from COSMIC repository [48] v69.
  2. Listed are the major PI3K/AKT/mTOR components including gene symbols, description of the genes, and frequency of mutation in each disease and CNV in AML.