Abstract A31: Risk stratification of ductal carcinoma in situ: Analytical validation of a prognostic test analyzing live-primary cells via phenotypic biomarkers and machine learning at single-cell resolution

Author(s):  
Ashok Chander ◽  
Michael Manak ◽  
Jonathan Varsanik ◽  
Brad Hogan ◽  
Grannum Sant ◽  
...  
2021 ◽  
Author(s):  
Esther H. Lips ◽  
Tapsi Kumar ◽  
Anargyros Megalios ◽  
Lindy L. Visser ◽  
Michael Sheinman ◽  
...  

Pure ductal carcinoma in situ (DCIS) is being diagnosed more frequently through breast screening programmes and is associated with an increased risk of developing invasive breast cancer. We assessed the clonal relatedness of 143 cases of pure DCIS and their subsequent events using a combination of whole exome, targeted and copy number sequencing, supplemented by single cell analysis. Unexpectedly, 18% of all invasive events after DCIS were clonally unrelated to the primary DCIS. Single cell sequencing of selected pairs confirmed our findings. In contrast, synchronous DCIS and invasive disease (n=44) were almost always (93%) clonally related. This challenges the dogma that most invasive events after DCIS represent invasive transformation of the initial DCIS and suggests that DCIS could be an independent risk factor for developing invasive disease as well as a precursor lesion.


2017 ◽  
Vol 31 (3) ◽  
pp. 406-417 ◽  
Author(s):  
Michael J Gerdes ◽  
Yesim Gökmen-Polar ◽  
Yunxia Sui ◽  
Alberto Santamaria Pang ◽  
Nicole LaPlante ◽  
...  

2022 ◽  
Vol 8 (1) ◽  
Author(s):  
Ko Woon Park ◽  
Seon Woo Kim ◽  
Heewon Han ◽  
Minsu Park ◽  
Boo-Kyung Han ◽  
...  

AbstractPatients with a biopsy diagnosis of ductal carcinoma in situ (DCIS) may be diagnosed with invasive breast cancer after excision. We evaluated the preoperative clinical and imaging predictors of DCIS that were associated with an upgrade to invasive carcinoma on final pathology and also compared the diagnostic performance of various statistical models. We reviewed the medical records; including mammography, ultrasound (US), and magnetic resonance imaging (MRI) findings; of 644 patients who were preoperatively diagnosed with DCIS and who underwent surgery between January 2012 and September 2018. Logistic regression and three machine learning methods were applied to predict DCIS underestimation. Among 644 DCIS biopsies, 161 (25%) underestimated invasive breast cancers. In multivariable analysis, suspicious axillary lymph nodes (LNs) on US (odds ratio [OR], 12.16; 95% confidence interval [CI], 4.94–29.95; P < 0.001) and high nuclear grade (OR, 1.90; 95% CI, 1.24–2.91; P = 0.003) were associated with underestimation. Cases with biopsy performed using vacuum-assisted biopsy (VAB) (OR, 0.42; 95% CI, 0.27–0.65; P < 0.001) and lesion size <2 cm on mammography (OR, 0.45; 95% CI, 0.22–0.90; P = 0.021) and MRI (OR, 0.29; 95% CI, 0.09–0.94; P = 0.037) were less likely to be upgraded. No significant differences in performance were observed between logistic regression and machine learning models. Our results suggest that biopsy device, high nuclear grade, presence of suspicious axillary LN on US, and lesion size on mammography or MRI were independent predictors of DCIS underestimation.


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