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Abstract
The PI3K/AKT/mTOR pathway alterations have significant roles in the development, progression and metastatic potential of breast cancer in addition to enhancing resistance to many of the drugs used to control breast cancer, specially anti hormonal therapies. In this study we aimed to define the correlation between the PI3K mutations and the expression of the phosphorylated forms of different downstream molecules of this pathway in the samples of Egyptian patients with luminal breast cancer. Results Thirty two cases were assessable for LKB1 and pAKT, 33 for p4EBP1 and pS6RP and 24 were assessed for PI3K mutations. Median age at diagnosis was 51.3 years (range: 25 to 82 years). Tumors were larger than 20 mm in 79.2% and 57.9% had axillary lymph node (LN) metastasis. Only 3.5% of the patients had SBR grade I tumors, 71.9% grade II tumors and 24.6% grade III tumors. Estrogen receptors (ER) were found to be negative in 6 patients after central pathology review. Nuclear LKB1, cytoplasmic LKB1, nuclear pAKT, cytoplasmic pAKT, nuclear p4EBP1 and cytoplasmic pS6RP expression was high in 65.6%, 62.5%, 62.5%, 68.8%, 42.4% and 57.6% respectively. PIK3CA mutations were found in 7 patients (29.2%).