scholarly journals Whole-Exome Sequencing Analysis of the Progression from Non–Low-Grade Ductal Carcinoma In Situ to Invasive Ductal Carcinoma

2020 ◽  
Vol 26 (14) ◽  
pp. 3682-3693 ◽  
Author(s):  
Fresia Pareja ◽  
David N. Brown ◽  
Ju Youn Lee ◽  
Arnaud Da Cruz Paula ◽  
Pier Selenica ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Invasive Ductal Carcinoma ◽  
Ductal Carcinoma In Situ ◽  
Carcinoma In Situ ◽  
Ductal Carcinoma ◽  
Low Grade ◽  
Sequencing Analysis ◽  
Whole Exome

scholarly journals Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Satoi Nagasawa ◽  
Yuta Kuze ◽  
Ichiro Maeda ◽  
Yasuyuki Kojima ◽  
Ai Motoyoshi ◽  
...  
Keyword(s):  
Ductal Carcinoma In Situ ◽  
Carcinoma In Situ ◽  
Epithelial To Mesenchymal Transition ◽  
Ductal Carcinoma ◽  
Sequencing Analysis ◽  
Mesenchymal Transition ◽  
Clinical Criteria ◽  
Whole Exome ◽  
Number Of Patients

AbstractIn a substantial number of patients, ductal carcinoma in situ (DCIS) of the breast will never progress to invasive ductal carcinoma, and these patients are often overtreated under the current clinical criteria. Although various candidate markers are available, relevant markers for delineating risk categories have not yet been established. In this study, we analyzed the clinical characteristics of 431 patients with DCIS and performed whole-exome sequencing analysis in a 21-patient discovery cohort and targeted deep sequencing analysis in a 72-patient validation cohort. We determined that age <45 years, HER2 amplification, and GATA3 mutation are possible indicators of relapse. PIK3CA mutation negativity and PgR negativity were also suggested to be risk factors. Spatial transcriptome analysis further revealed that GATA3 dysfunction upregulates epithelial-to-mesenchymal transition and angiogenesis, followed by PgR downregulation. These results reveal the existence of heterogeneous cell populations in DCIS and provide predictive markers for classifying DCIS and optimizing treatment.

Type of Architecture, Presence of Punctate Necrosis, and Extent of Involvement in Atypical Ductal Hyperplasia Can Predict the Diagnosis of Breast Carcinoma on Excision: A Clinicopathologic Study of 143 Cases

2021 ◽  
pp. 106689692110109
Author(s):  
Cunxian Zhang ◽  
Edmond Y. Wang ◽  
Fang Liu ◽  
M. Ruhul Quddus ◽  
C. James Sung
Keyword(s):  
Breast Carcinoma ◽  
Invasive Ductal Carcinoma ◽  
Ductal Carcinoma In Situ ◽  
Carcinoma In Situ ◽  
Ductal Carcinoma ◽  
Atypical Ductal Hyperplasia ◽  
Low Grade ◽  
Type B ◽  
Ductal Hyperplasia

The literature shows a wide range in the frequencies of finding breast carcinoma in the excised specimens following a biopsy diagnosis of atypical ductal hyperplasia (ADH), likely due to a poor diagnostic reproducibility among different pathologists as well as an inherent heterogeneity in ADH. We evaluated whether histologic subtyping of ADH would help predict the risk of breast carcinoma. Our study consisted of 143 cases of ADH diagnosed by core needle biopsy and followed by excision. Of these, 54 cases (37.8%) showed carcinoma in the excised specimens (47 cases of ductal carcinoma in situ alone, 3 cases of invasive ductal carcinoma alone, and 4 cases of mixed invasive ductal carcinoma and ductal carcinoma in situ). We arbitrarily divided ADH into two subtypes: type A was considered when one or more ducts were completely replaced by low-grade ductal carcinoma in situ type cells but the lesion was <2 mm and type B was considered when one or more ducts were partially involved by low-grade ductal carcinoma in situ type cells regardless of lesion size. Type A was associated with a significantly higher frequency of breast carcinoma (63.6%) than type B (30.0%). ADH containing punctate necrosis showed a higher association of carcinoma (66.7%) compared to those without necrosis (35.1%). Within type B ADH, involvement of 3 or more foci had a higher frequency of carcinoma (50.0%) than involvement of fewer foci (26.6%). These histologic features of ADH may prove useful in predicting the likelihood of breast carcinoma and provide helpful information for patient's management.

scholarly journals Clinicopathological predictors of postoperative upstaging to invasive ductal carcinoma (IDC) in patients preoperatively diagnosed with ductal carcinoma in situ (DCIS): a multi-institutional retrospective cohort study

Breast Cancer ◽  
2021 ◽  
Author(s):  
Kiyo Tanaka ◽  
Norikazu Masuda ◽  
Naoki Hayashi ◽  
Yasuaki Sagara ◽  
Fumikata Hara ◽  
...  
Keyword(s):  
Invasive Ductal Carcinoma ◽  
Ductal Carcinoma In Situ ◽  
Tumor Size ◽  
Medical Records ◽  
Carcinoma In Situ ◽  
Ductal Carcinoma ◽  
Palpable Mass ◽  
Combined Use ◽  
A Prospective Study

Abstract Background We conducted a prospective study with the intention to omit surgery for patients with ductal carcinoma in situ (DCIS) of the breast. We aimed to identify clinicopathological predictors of postoperative upstaging to invasive ductal carcinoma (IDC) in patients preoperatively diagnosed with DCIS. Patients and methods We retrospectively analyzed patients with DCIS diagnosed through biopsy between April 1, 2010 and December 31, 2014, from 16 institutions. Clinical, radiological, and histological variables were collected from medical records. Results We identified 2,293 patients diagnosed with DCIS through biopsy, including 1,663 DCIS (72.5%) cases and 630 IDC (27.5%) cases. In multivariate analysis, the presence of a palpable mass (odds ratio [OR] 1.8; 95% confidence interval [CI] 1.2–2.6), mammography findings (≥ category 4; OR 1.8; 95% CI 1.2–2.6), mass formations on ultrasonography (OR 1.8; 95% CI 1.2–2.5), and tumor size on MRI (> 20 mm; OR 1.7; 95% CI 1.2–2.4) were independent predictors of IDC. Among patients with a tumor size on MRI of ≤ 20 mm, the possibility of postoperative upstaging to IDC was 22.1%. Among the 258 patients with non-palpable mass, nuclear grade 1/2, and positive for estrogen receptor, the possibility was 18.1%, even if the upper limit of the tumor size on MRI was raised to ≤ 40 mm. Conclusion We identified four independent predictive factors of upstaging to IDC after surgery among patients with DCIS diagnosed by biopsy. The combined use of various predictors of IDC reduces the possibility of postoperative upstaging to IDC, even if the tumor size on MRI is larger than 20 mm.

Atypical cystic lobules: an early stage in the formation of low-grade ductal carcinoma in situ

1999 ◽  
Vol 435 (4) ◽  
pp. 413-421 ◽  
Author(s):  
Tetsunari Oyama ◽  
Horacio Maluf ◽  
F. Koerner
Keyword(s):  
Ductal Carcinoma In Situ ◽  
Carcinoma In Situ ◽  
Ductal Carcinoma ◽  
Early Stage ◽  
Low Grade

scholarly journals Ανοστοϊστοχημική εκτίμηση πρωτεϊνών οξείας φάσης σε διηθητικά καρκινώματα μαστού

2018 ◽  
Author(s):  
Διονύσιος Δήμας
Keyword(s):  
Invasive Ductal Carcinoma ◽  
Ductal Carcinoma In Situ ◽  
Carcinoma In Situ ◽  
Ductal Carcinoma ◽  
Matched Pairs

Σκοπός της παρούσας μελέτης είναι η αξιολόγηση της σημασίας της έκφρασης των Hsp70/90 σε ασθενείς με καρκίνο μαστού. Σημαντική προέκταση της εκτίμησης αυτής αποτελεί η αξιολόγηση της σημασίας τους ως δυνητικά μόρια-στόχους στη φαρμακευτική θεραπεία του καρκίνου του μαστού.Μέθοδος: Προκειμένου για την αξιολόγηση της σχέσης αυτής πραγματοποιήθηκε μελέτη σε ιστικά δείγματα από 54 ασθενείς με πορογενή νεοπλάσματα του μαστού. Χρησιμοποιήθηκαν τα κατάλληλα αντιδραστήρια για τη μελέτη της έκφρασης των Hsp70/90 στα δείγματα αυτά, καθώς και της έκφρασης των ER, PR, HER2, Ki67. Παράλληλα εξετάστηκε, η διαφορά έκφρασης μεταξύ καρκινικών και μη ιστών, ο βαθμός ιστολογικής κακοήθειας, το μέγεθος του όγκου, η παρουσία ή μη λεμφαδενικής διήθησης από τον όγκο και η παρουσία απομακρυσμένων μεταστάσεων. Κατόπιν πραγματοποιήθηκε συστηματική ανασκόπηση της βιβλιογραφίας προκειμένου για τον έλεγχο της επίδρασης της έκφρασης των Hsp70/90 στην επιβίωση, το PCNALI, καθώς και στις μεταβλητές που εξετάστηκαν στην πρωτογενή μελέτη της παρούσας διατριβής. Επίσης πραγματοποιήθηκε ποσοτική σύνθεση (μετα-ανάλυση) των σχετικών αποτελεσμάτων των μελετών που περιλήφθηκαν στην ανασκόπηση.Αποτελέσματα: Από τις μεταβλητές που εξετάστηκαν στην πρωτογενή μελέτη δεν προέκυψε κάποια στατιστικά σημαντική συσχέτιση μεταξύ αυτών και της έκφρασης των Hsp70/90. Μόνη εξαίρεση αποτελεί η στατιστικά σημαντική, χαμηλότερη έκφραση της Hsp90 στο IDC (Invasive Ductal Carcinoma) σε σχέση με αυτή στο DCIS (Ductal Carcinoma in Situ) (DCIS (6.54±1.31 vs. 7.16±0.82, αντίστοιχα, p=0.004, Wilcoxon matched-pairs signed-ranks test) και αντίστοιχα, η σημαντικά χαμηλότερη έκφρασή της στο DCIS σε σχέση με αυτήν στο φυσιολογικό παρακείμενο μαστό (p=0.0002, με την ίδια δοκιμασία). Από την συστηματική ανασκόπηση της βιβλιογραφίας, τα μόνα σημεία στα οποία υπήρχε σύμπνοια των αποτελεσμάτων των μελετών, αφορούσαν στην έκφραση της Hsp70 σε σχέση με το PCNALI και στην σημαντικά χειρότερη συνολική επιβίωση των ασθενών με υψηλή έκφραση της Hsp90. Από τη μετα-ανάλυση προέκυψε συσχέτιση της υψηλής έκφρασης της Hsp90 με χειρότερη συνολική επιβίωση και οριακά χειρότερη ελεύθερη-νόσου επιβίωση των ασθενών με καρκίνο μαστού. Η υψηλή έκφραση της Hsp70 συσχετίστηκε επίσης με χειρότερη ελεύθερη-νόσου επιβίωση, καθώς και θετικότητα των οιστρογονικών (ER) και προγεστερονικών (PR) υποδοχέων.Συμπέρασμα: Από τη συστηματική ανασκόπηση και μετα-ανάλυση που πραγματοποιήθηκε στα πλαίσια της παρούσας διατριβής, υπογραμμίζεται η προγνωστική αξία της έκφρασης των Hsp70 και Hsp90 στον καρκίνο του μαστού. Περαιτέρω υψηλής ποιότητας μελέτες, με αναλυτική παρουσίαση των αποτελεσμάτων τους είναι αναγκαίες για την παροχή επιδημιολογικών στοιχείων, που θα συμπληρώσουν τα ευρήματα των εν εξελίξει κλινικών δοκιμών για τους αναστολείς των Hsps. 

scholarly journals Stereotactic Vacuum-Assisted Breast Biopsy in Ductal Carcinoma in situ: Residual Microcalcifications and Intraoperative Findings

Breast Care ◽  
2019 ◽  
Vol 15 (4) ◽  
pp. 386-391
Author(s):  
Benedict Krischer ◽  
Serafino Forte ◽  
Gad Singer ◽  
Rahel A. Kubik-Huch ◽  
Cornelia Leo
Keyword(s):  
Ductal Carcinoma In Situ ◽  
Carcinoma In Situ ◽  
Ductal Carcinoma ◽  
Significant Proportion ◽  
Invasive Cancer ◽  
Histopathological Diagnosis ◽  
Low Grade ◽  
High Grade ◽  
Surgical Specimen

Purpose: The question of overtreatment of ductal carcinoma in situ (DCIS) was raised because a significant proportion of especially low-grade DCIS lesions never progress to invasive cancer. The rationale for the present study was to analyze the value of stereotactic vacuum-assisted biopsy (VAB) for complete removal of DCIS, focusing on the relationship between the absence of residual microcalcifications after stereotactic VAB and the histopathological diagnosis of the definitive surgical specimen. Patients and Methods: Data of 58 consecutive patients diagnosed with DCIS by stereotactic VAB in a single breast center between 2012 and 2017 were analyzed. Patient records from the hospital information system were retrieved, and mammogram reports and images as well as histopathology reports were evaluated. The extent of microcalcifications before and after biopsy as well as the occurrence of DCIS in biopsy and definitive surgical specimens were analyzed and correlated. Results: There was no correlation between the absence of residual microcalcifications in the post-biopsy mammogram and the absence of residual DCIS in the final surgical specimen (p = 0.085). Upstaging to invasive cancer was recorded in 4 cases (13%) but occurred only in the group that had high-grade DCIS on biopsy. Low-grade DCIS was never upgraded to high-grade DCIS in the definitive specimen. Conclusions: The radiological absence of microcalcifications after stereotactic biopsy does not rule out residual DCIS in the final surgical specimen. Since upstaging to invasive cancer is seen in a substantial proportion of high-grade DCIS, the surgical excision of high-grade DCIS should remain the treatment of choice.

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