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Circulating PIK3CA mutation detection at diagnosis in non-metastatic inflammatory breast cancer patients.
- Source :
-
Scientific reports [Sci Rep] 2021 Dec 15; Vol. 11 (1), pp. 24041. Date of Electronic Publication: 2021 Dec 15. - Publication Year :
- 2021
-
Abstract
- Inflammatory breast cancer (IBC) is an aggressive BC subtype with poor outcomes. A targetable somatic PIK3CA mutation is reported in 30% of IBC, allowing for treatment by PI3Kα-specific inhibitors, such as alpelisib. The aim of this study was to evaluate the detection rate of circulating PIK3CA mutation in locally-advanced IBC (LAIBC) patients harbouring a PIK3CA mutation on initial biopsy. This monocentric retrospective study was based on available stored plasma samples and tumour biopsies at diagnosis from all LAIBC patients treated with neo-adjuvant chemotherapy (NCT) between 2008 and 2018 at the Centre Henri Becquerel. PIK3CA mutations (E542K, E545K, H1047R/L) were assessed by droplet digital PCR (ddPCR) in plasma samples and tumoral tissue at diagnosis. A total of 55 patients were included. Overall, 14/55 patients (25%) had a PIK3CA mutation identified on baseline biopsy (H1047R = 8; H1047L = 3; E545K = 2; E542K = 1). Among them, 11 (79%) patients had enough DNA for circulating DNA analyses, and corresponding circulating PIK3CA mutations were found in 6/11 (55%). Among the 41 patients without PIK3CA mutations on biopsy, 32 (78%) had enough DNA for circulating DNA analysis, and no circulating PIK3CA mutation was identified. Our results revealed no prognostic or predictive value of PIK3CA mutations at the diagnosis of non-metastatic IBC but highlighted the prognostic value of the cfDNA rate at diagnosis. Our study showed that a corresponding circulating PIK3CA mutation was identified in 55% of LAIBC patients with PIK3CA-mutated tumours, while no circulating mutation was found among patients with PI3KCA wild-type tumours.<br /> (© 2021. The Author(s).)
- Subjects :
- Adult
Aged
Aged, 80 and over
DNA Mutational Analysis
Female
Humans
Inflammatory Breast Neoplasms blood
Inflammatory Breast Neoplasms mortality
Middle Aged
Neoplasm Grading
Neoplasm Staging
Prognosis
Retrospective Studies
Survival Analysis
Biomarkers, Tumor
Circulating Tumor DNA
Class I Phosphatidylinositol 3-Kinases genetics
Inflammatory Breast Neoplasms diagnosis
Inflammatory Breast Neoplasms etiology
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 2045-2322
- Volume :
- 11
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Scientific reports
- Publication Type :
- Academic Journal
- Accession number :
- 34911971
- Full Text :
- https://doi.org/10.1038/s41598-021-02643-y