scholarly journals Circulating PIK3CA mutation detection at diagnosis in non-metastatic inflammatory breast cancer patients

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Violette Allouchery ◽  
Anne Perdrix ◽  
Céline Calbrix ◽  
Anca Berghian ◽  
Justine Lequesne ◽  
...  

AbstractInflammatory 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.

2013 ◽  
Vol 19 (6) ◽  
pp. 685-686 ◽  
Author(s):  
Alfonso Sánchez-Muñoz ◽  
Yessica Plata-Fernández ◽  
Ana Jaén ◽  
María Lomas ◽  
Margarita Fernández ◽  
...  

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Ryan A. Denu ◽  
John M. Hampton ◽  
Adam Currey ◽  
Roger T. Anderson ◽  
Rosemary D. Cress ◽  
...  

Inflammatory breast cancer (IBC) is a rare yet aggressive form of breast cancer. We examined differences in patient demographics and outcomes in IBC compared to locally advanced breast cancer (LABC) and all other breast cancer patients from the Breast and Prostate Cancer Data Quality and Patterns of Care Study (POC-BP), containing information from cancer registries in seven states. Out of 7,624 cases of invasive carcinoma, IBC and LABC accounted for 2.2% (N=170) and 4.9% (N=375), respectively. IBC patients were more likely to have a higher number (P=0.03) and severity (P=0.01) of comorbidities than other breast cancer patients. Among IBC patients, a higher percentage of patients with metastatic disease versus nonmetastatic disease were black, on Medicaid, and from areas of higher poverty and more urban areas. Black and Hispanic IBC patients had worse overall and breast cancer-specific survival than white patients; moreover, IBC patients with Medicaid, patients from urban areas, and patients from areas of higher poverty and lower education had worse outcomes. These data highlight the effects of disparities in race and socioeconomic status on the incidence of IBC as well as IBC outcomes. Further work is needed to reveal the causes behind these disparities and methods to improve IBC outcomes.


2002 ◽  
Vol 10 (3) ◽  
pp. 111-114
Author(s):  
Zora Neskovic-Konstantinovic ◽  
Dragica Nikolic-Vukosavljevic ◽  
Ksenija Kanjer ◽  
Danica Jovanovic ◽  
Mirjana Brankovic-Magic

Background: The normal function and distribution of EGF-R and its role in breast cancer aggressiveness, prognosis and prediction, have become extremely important in the light of the recently developed methods of EGF-R targeting. In the aim to investigate the relationship between EGF-R and the aggressive tumor behavior, the EGF-R content was analyzed as related to the presence of inflammatory breast skin involvement. Methods: EGF-R, ER and PR content was determined at diagnosis, using the biochemical methods, in the group of 103 unselected breast cancer patients, either in primary tumors (TU), lymph nodes (LN) or skin tissue samples (65, 27 and 11 cases respectively). In 10 patients with inflammatory breast cancers, TU/LN tissue was sampled from 3, and skin from 7 patients. Results: ER and PR content was significantly higher in tumor and LN tissue, compared to the invaded skin the EGF-R content was, on the contrary, significantly higher in skin than in TU or LN tissue. However, no difference was found between TU and LN in all three receptors' content. When the receptor content was analyzed in 10 patients with inflammatory breast cancer, higher levels of both ER and PR were found in tumor biopsies than in skin biopsies, while for the EGF-R the result was opposite. Significantly lower ER content and a trend towards higher EGF-R content was found in the inflammatory breast cancers in comparison to the non-inflammatory ones. Conclusion: Although we examined a small number of patients, our results suggest that the EGF-R could be a marker of breast cancer aggressiveness. However, the influence of the normal skin cells contaminating the biopsied tumor tissue cannot be ruled out. The predictive role of EGF-R deserves to be further investigated especially in locally advanced inflammatory breast cancer patients.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Julien Corné ◽  
Fanny Le Du ◽  
Véronique Quillien ◽  
Florence Godey ◽  
Lucie Robert ◽  
...  

AbstractWith the approval of new therapies targeting the PI3K pathway, the detection of PIK3CA mutations has become a key factor in treatment management for HR+/HER2− metastatic breast cancer (MBC). We developed multiplex digital PCR (dPCR) assays to detect and quantify PIK3CA mutations. A first screening assay allows the detection of 21 mutations, with a drop-off system targeting the 542–546 hotspot mutations combined with the simultaneous detection of N345K, C420R, H1047L and H1047R mutations. In the case of a positive result, a sequential strategy based on other assays that we have developped allows for precise mutation identification. Clinical validity was determined by analyzing plasma circulating free DNA (cfDNA) from 213 HR+/HER2− MBC samples, as well as DNA extracted from 97 available matched tumors from 89 patients. Our assays have shown reliable specificity, accuracy and reproducibility, with limits of blank of three and four droplets for the screening assay. Sixty-eight patients (32%) had at least one PIK3CA mutation detectable in their plasma, and we obtained 83.1% agreement between the cfDNA analysis and the corresponding tumors. The high sensitivity and robustness of these new dPCR assays make them well-suited for rapid and cost-effective detection of PIK3CA mutations in the plasma of MBC patients.


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