Clinicopathogenomic analysis of PI3K/AKT/PTEN-altered luminal metastatic breast cancer in Japan.

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Tác giả: Akiko Ebata, Narumi Harada-Shoji, Takanori Ishida, Tomomi Kon, Minoru Miyashita, Tokiwa Motonari, Aru Sakamoto, Miku Sato, Hiroshi Tada, Mika Yanagaki

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: Japan : Breast cancer (Tokyo, Japan) , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 735982

 This rapid communication highlights the correlation between protein kinase B alpha (AKT1)-phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)- phosphatase and tensin homolog (PTEN) alterations and clinicopathological factors in Japanese patients with metastatic recurrent breast cancer (mBC). This study analyzed 1967 patients with luminal-type breast cancer who underwent cancer gene panel testing. The results demonstrated that AKT pathway alterations, including PI3K/AKT/PTEN, occurred in 1038 (52.8%) cases. Patients with AKT pathway mutations were older (p = 0.002) and had a higher rate of invasive lobular carcinoma (ILC) histology (p = 0.002), progesterone receptor (PgR) positivity (p = 0.006), and bone metastases (p = 0.002), and a lower rate of germline BRCA2 (p <
  0.002). Comprehensive genomic profile results demonstrated a higher tumor mutational burden (TMB) (<
  0.002) and lower tumor BRCA1/2 expression (<
  0.002) in patients with mutations in the AKT pathway. These results are crucial for characterizing candidates for AKT pathway-targeted molecular therapies and conceptualizing optimal treatment strategies. Clinical trial registration: This study is an observational study and is therefore not registered with the clinical trials registration.
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