Detection and Clinical Significance of Peripheral Blood CTC, CA125, CA153, and CEA Levels in Patients with Ductal Carcinoma in situ

Objective:To explore the detection and clinical significance of peripheral blood CTC,CA125,CA153,and CEA levels in patients with DCIS.Methods:210 patients who received surgical treatment for breast cancer in our hospital from January 2019 to December 2022 were selected as the research subjects.According to the postoperative pathology,100 cases were divided into breast cancer and 110 benign breast tumor groups.One hundred ten healthy patients undergoing physical examination during the same period were selected as the control group.CA153,CA125,and CEA levels were observed in the three groups.Results:The levels of CA153,CA125,and CEA in the breast cancer group were significantly higher than those in the benign breast tumor group and the control group(P<0.05);the levels of CA153,CA125,and CEA in the benign breast tumor group were all higher than those in the control group,but the differences were not statistically significant;among the three tumor markers,CA153 has the highest sensitivity at 39.00%,CA125 has the second highest sensitivity at 18.00%,and CEA has the lowest sensitivity at 17.00%;The sensitivity of the two joint tests of CA153+CA125,CA153+CEA,and CA125+CEA for the diagnosis of breast cancer were 50.00%,48.00%,and 26.00%respectively;the sensitivity of the three joint tests is the highest,reaching 53.00%,while the specificity of the joint tests was lower than the individual tests.Conclusion:Detection of peripheral blood CTC,CA125,CA153,and CEA levels has specific reference significance for the treatment and prognosis of DCIS patients.

Factors associated with upstaging in patients preoperatively diagnosed with ductal carcinoma in situ by core needle biopsy

Objective: Patients preoperatively diagnosed with ductal carcinoma in situ(DCIS) by core needle biopsy(CNB) exhibit a significant risk for upstaging on final pathology, which leads to major concerns of whether axillary staging is required at the primary operation. The present study aimed to identify clinicopathological factors associated with upstaging in patients preoperatively diagnosed with DCIS by CNB.Methods: The present study enrolled 604 patients(cN0 M0) with a preoperative diagnosis of pure DCIS by CNB, who underwent axillary staging between August 2006 and December 2015, at Fudan University Shanghai Cancer Center(Shanghai, China).Predictive factors of upstaging were analyzed retrospectively.Results: Of the 604 patients, 20.03%(n = 121) and 31.95%(n = 193) were upstaged to DCIS with microinvasion(DCISM) and invasive breast cancer(IBC) on final pathology, respectively. Larger tumor size on ultrasonography(> 2 cm) was independently associated with upstaging [odds ratio(OR) 1.558, P = 0.014]. Additionally, patients in lower breast imaging reporting and data system(BI-RADS) categories were less likely to be upstaged(4 B vs. 5: OR 0.435, P = 0.002;4 C vs. 5: OR 0.502, P = 0.001). Overall,axillary metastasis occurred in 6.79%(n = 41) of patients. Among patients with axillary metastasis, 1.38%(4/290), 3.31%(4/121)and 17.10%(33/193) were in the DCIS, DCISM, and IBC groups, respectively.Conclusions: For patients initially diagnosed with DCIS by CNB, larger tumor size on ultrasonography(> 2 cm) and higher BIRADS category were independent predictive factors of upstaging on final pathology. Thus, axillary staging in patients with smaller tumor sizes and lower BI-RADS category may be omitted, with little downstream risk for upstaging.

Sentinel lymph node biopsy in clinically detected ductal carcinoma in situ

AIM:To study the indications for sentinel lymph node biopsy(SLNB) in clinically-detected ductal carcinoma in situ(CD-DCIS).METHODS:A retrospective analysis of 20 patients with an initial diagnosis of pure DCIS by an image-guided core needle biopsy(CNB) between June 2006 and June 2012 was conducted at King Faisal Specialist Hospital.The accuracy of performing SLNB in CD-DCIS,the rate of sentinel and non-sentinel nodal metastasis,and the histologic underestimation rate of invasive cancer at initial diagnosis were analyzed.The inclusion criteria were a preoperative diagnosis of pure DCIS with no evidence of invasion.We excluded any patient with evidence of microinvasion or invasion.There were two cases of mammographically detected DCIS and 18 cases of CDDCIS.All our patients were diagnosed by an imageguided CNB except two patients who were diagnosed by fine needle aspiration(FNA).All patients underwent breast surgery,SLNB,and axillary lymph node dissection(ALND) if the SLN was positive.RESULTS:Twenty patients with an initial diagnosis of pure DCIS underwent SLNB,2 of whom had an ALND.The mean age of the patients was 49.7 years(range,35-70).Twelve patients(60%) were premenopausal and 8(40%) were postmenopausal.CNB was the diagnostic procedure for 18 patients,and 2 who were diagnosed by FNA were excluded from the calculation of the underestimation rate.Two out of 20 had a positive SLNB and underwent an ALND and neither had additional non sentinel lymph node metastasis.Both the sentinel visualization rate and the intraoperative sentinel identification rate were 100%.The false negative rate was 0%.Only 2 patients had a positive SLNB(10%) and neither had additional metastasis following an ALND.After definitive surgery,3 patients were upstaged to invasive ductal carcinoma(3/18 = 16.6%) and 3 other patients were upstaged to DCIS with microinvasion(3/18 = 16.6%).Therefore the histologic underestimation rate of invasive disease was 33%.CONCLUSION:SLNB in CD-DCIS is technically feasible and highly accurate.We recommend limiting SLNB to patients undergoing a mastectomy.

Tumor characteristics of ductal carcinoma in situ of breast visualized on [F-18] fluorodeoxyglucose-positron emission tomography/computed tomography: Results from a retrospective study

AIM To clarify clinicopathological features of ductal carcinoma in situ(DCIS) visualized on [F-18] fluorodeoxyglucosepositron emission tomography/computed tomography(FDG-PET/CT).METHODS This study retrospectively reviewed 52 consecutive tumors in 50 patients with pathologically proven pure DCIS who underwent [F-18] FDG-PET/CT before surgery. [F-18] FDG-PET/CT was performed after biopsy in all patients. The mean interval from biopsy to [F-18] FDGPET/CT was 29.2 d. [F-18] FDG uptake by visual analysis and maximum standardized uptake value(SUVmax) was compared with clinicopathological characteristics.RESULTS[F-18] FDG uptake was visualized in 28 lesions(53.8%) and the mean and standard deviation of SUVmax was 1.63 and 0.90. On univariate analysis, visual analysis and the SUVmax were associated with symptomatic presentation(P = 0.012 and 0.002, respectively), palpability(P = 0.030 and 0.024, respectively), use of core-needle biopsy(CNB)(P = 0.023 and 0.012, respectively), ultrasound-guided biopsy(P = 0.040 and 0.006, respectively), enhancing lesion ≥ 20 mm on magnetic resonance imaging(MRI)(P = 0.001 and 0.010, respectively), tumor size ≥ 20 mm on histopathology(P = 0.002 and 0.008, respectively). However, [F-18] FDG uptake parameters were not significantly associated with age, presence of calcification on mammography, mass formation on MRI, presence of comedo necrosis, hormone status(estrogen receptor, progesterone receptor and human epidermal growth factor receptor-2), and nuclear grade. The factors significantly associated with visual analysis and SUVmax were symptomatic presentation(P = 0.019 and 0.001, respectively), use of CNB(P = 0.001 and 0.031, respectively), and enhancing lesion ≥ 20 mm on MRI(P = 0.001 and 0.049, respectively) on multivariate analysis.CONCLUSION Although DCIS of breast is generally non-avid tumor, symptomatic and large tumors(≥ 20 mm) tend to be visualized on [F-18] FDG-PET/CT.

Preoperational diagnosis and management of breast ductal carcinoma in situ arising within fibroadenoma:Two case reports

BACKGROUND Ductal carcinoma in situ(DCIS)arising within fibroadenoma is a type of tumor that is rarely encountered in clinic,with only about 100 cases of carcinoma arising within a fibroadenoma reported in the literature.Here,we present two cases of breast DCIS arising within a fibroadenoma and discuss their clinical and imaging findings as well as treatment.CASE SUMMARY The patients did not have cancer-related personal and family histories.Case 1(a 49-year-old woman)was diagnosed with a bilateral breast nodule in May 2018 and was followed(preoperative imaging data including ultrasound and mammography)for 3 years;she underwent an excisional biopsy to address an enlargement in nodule size.Case 2(a 37-year-old woman)was diagnosed with a left breast nodule in June 2021 and consequently received vacuum-assisted biopsy of the tumor which appeared as“irregularly shaped”and“unevenly textured”tissue on ultrasound.The pathological diagnosis was clear in both cases.Both patients underwent breast-conserving surgery and sentinel lymph node biopsy.The two cases received or planned to receive radiotherapy as well as endocrine therapy(tamoxifen).CONCLUSION Breast DCIS arising within a fibroadenoma is rare,but patients treated with radiotherapy and endocrine therapy can have good prognosis.

Is sentinel lymph node biopsy necessary for the patients diagnosed with breast ductal carcinoma in situ using core needle biopsy or vacuum-assisted biopsy as the initial diagnostic method？

Axillary lymph node status is one of the most important prognostic indicator of survival for breast cancer, especially in ductal carcinoma in situ （DCIS）. The purpose of this study was to investigate whether sentinel lymph node biopsy （SLNB） should be performed in patients with an initial diagnosis of DCIS. Methods： A retrospective study was performed of 124 patients with an initial diagnosis of DCIS between March 2000 and June 2014. The patients were treated with either SLNB or axillary node dissection during the surgery, and we compared the clinicopathologic characteristics, image features, and immunohistochemical results. Results： Eighty-two patients （66.1%） had pure DCIS and 25 （20.2%） had DCIS with microinvasion （DCISM）, 17 （13.7%） updated to invasive breast cancer （IBC）. 115 patients （92.7%） underwent SLNB, among them, 70 patients （56.5%） underwent axillary node dissection. 3 of 115 patients （2.6%） had a positive sentinel lymph node, only 1 （1.4%） of 70 patients had axillary lymph node metastasis, in 84 patients （66.7%） who were diagnosed DCIS by core needle biopsy （CNB） and vacuum-assisted biopsy （VAB）. 26 patients （31.0%） were upstaged into IBC or DCISM in the final histological diagnosis. The statistically significant factors predictive of underestimation were large tumor size, microcalcifications, comedo necrosis, positive Her-2 status, negative estrogen receptor status. Conclusion： The metastasis of sentinel lymph nodes in pure DCIS is very low, but the underestimation of invasive carcinoma in patients with an initial diagnosis of DCIS is an usual incident, especially in the cases when DCIS is diagnosed by CNB or VAB. Our findings suggest patients presenting with a preoperative diagnosis of DCIS associated with large tumor sizes, microcalcifications, comedo necrosis, positive Her-2 status, negative ER status are more likely to be DCISM and IBC in final diagnosis. SLNB should be performed in this part of patients.

Ultrasonographic features of breast ductalcarcinoma in situ

Objective The aims of this study were to analyze ultrasound features of breast ductal carcinoma in situ(DCIS) and to evaluate the value of ultrasonography(US) in early diagnosis of DCIS.Methods From July 2013 to March 2015,180 patients with histologically proven DCIS were evaluated.US features recorded included the size,shape,margins,internal echogenicity,microcalcifications,posterior echogenicity,and blood supply.The data were analyzed and compared with mammographic and histologic findings.Results Among 180 cases of DCIS,168 patients had positive findings on US;the lesions were divided into 3 categories:(1) hypoechoic lesions with or without microcalcifications(n=94);(2) hypoechoic dilated ducts with or without microcalcifications(n=59);(3) microcalcifications alone without any other findings(n=15).Of the 180 lesions,microcalcifications were demonstrated by mammography in 128(71%);among these 128 lesions,90 were identified with microcalcifications on US.Only 80 cases(44%) manifested as masses or asymmetric densities on mammography.The diagnostic accuracy of US and mammography was 67%(120/180) and 69%(124/180),respectively,which can be improved to 80%(144/180) if US is combined with mammography.Conclusion US can be used as an important tool in diagnosis of DCIS.The combination of US and mammography can improve the diagnostic accuracy of breast DCIS.

DUCTAL CARCINOMA IN SITU OF THE BREAST

Objective: To investigate the clinical characteristics, treatment and prognosis of ductal carcinomain situ (DCIS) of the breast. Methods: Clinicopathological and follow-up data were collected in 52 patients with DCIS. Results: The clinic data showed that 50 patients had signs of breast lumps or/and nipple discharges, 2 patients presented abnormal mammography; 2 patients had lymph node involved; and 14 patients were accompanied with intraductal papillomatosis. All patients were received surgical therapy. The follow-up data showed 1 patient locally recurred after lumpectomy, and was underwent mastectomy again, then cured. There were no patients died of DCIS. Conclusion: Mastectomy should be a standard surgical mode, and the prognosis of DCIS was favorable, but mammography for screening of asymptomatic women should be strengthened to find DCIS.

Towards optimal treatment of ductal carcinoma in situ

Ductal carcinoma in situ(DCIS) is a non-obligate precursor of invasive breast cancer with a variable biological behavior which is difficult to accurately predict using the current clinico-pathological parameters. Randomized controlled trials have demonstrated that adjuvant radiotherapy(RT) reduces the risk of local recurrence after adequate local excision of DCIS. Tamoxifen may be considered as an adjuvant endocrine treatment in patients with high risk estrogen receptor positive disease. There is however a growing consensus that RT can be safely omitted in a subgroup of patients with favorable biological features in order to avoid overtreatment. The sentinel node biopsy is not routinely indicated but should be considered in women undergoing mastectomy for DCIS. The discovery of molecular signatures that accurately predict the biological behavior of this common malignancy will facilitate a personalized treatment approach in the future.

Histological Grading in Ductal Carcinoma in Situ of the Breast

Objective: To study the significance of histological grading as a prognostic factor in ductal carcinoma in situ of the breast. Methods: According to the Van Nuy’s classification, 32 cases of ductal carcinoma in situ (DCIS) of the breast were divided into three groups. Results: Low grade (well differentiated, low grade DCIS) 12 patients (37.5%); Intermediate grade, 9 patients (28.1%); High grade (poorly differentiated DCIS) 11 patients (34.4%). Among the high grade DCIS, the histologic subtypes were comedo (9 patients), micropapillary (1 patient) and solid (1 patient). The positive expression of c-erbB-2, p53 and MIB-1 in high grade DCIS was higher than that in intermediate and low grade DCIS. The difference between high grade and low grade DCIS was significant (p<0.05). The expression of ER in high grade DCIS was lower than that in intermediate and low grade DCIS. Conclusions: Histological grading of breast ductal carcinoma in situ may be a good prognostic factor.

Calcified and Non-Calcified Ductal Carcinoma <i>in Situ</i>: Contrast-Enhanced MRI Features and Pathological Correlation

Background: Early detection of ductal carcinoma in situ (DCIS) is essential for improving the prognosis of breast cancer. Among mammographically detected DCIS cases, approximately 10% - 20% of DCIS cases are manifested as non-calcified. Purpose: To evaluate differences in MRI findings and histological features between mammographically evident non-calcified and calcified DCIS. Material and Methods: This study included 84 cases of pathologically proven DCIS in 82 patients who underwent preoperative breast MRI. The lesions were divided into non-calcified and calcified DCIS according to the presence of calcifications on mammography. MRI features were analyzed according to the enhancement pattern. The pathologic features were also reviewed. Results: Among the 84 DCIS cases, 30 (36%) were classified as non-calcified DCIS, and 54 (64%) as calcified DCIS on mammography. On MRI, 27% (8/30) of non-calcified DCIS and 17% (9/54) calcified DCIS presented as mass enhancement, 73% (22/30) non-calcified DCIS and 83% (45/54) calcified DCIS presented as non-mass enhancements. No significant difference in the type of lesion was observed between non-calcified and calcified DCIS (p = 0.274). Histopathologically, high nuclear grade, presence of necrosis, and presence of HER-2 status were more common in calcified DCIS than in non-calcified DCIS (p Conclusion: There were no significant differences in MRI findings between non-calcified and calcified DCIS. However, calcified DCIS had more aggressive histological features than non-calcified DCIS.

Ductal Carcinoma in Situ Treatment Requires a Multidisciplinary Approach

Correct diagnosis and treatment are crucial for DCIS because it is a direct precursor of potentially lethal invasive breast cancer (IBC). As a result of mammographic screening, the incidence of DCIS rose from 1.87% per 100,000 women from 1973-1975 to 32.5% per 100,000 in 2005. The incidence of DCIS is strongly associated with advanced age, an older age at the time of the first birth or nulliparity, family history of a first-degree relative with BC, BRCA1 and BRCA2 mutation carriers, history of biopsy, late age at menopause, and elevated body mass index, the use of HRT over 5 years. With the use of screening mammography, eight population-based trials showed an increase in DCIS incidence reaching 20% with significant reductions in breast cancer mortality. MRI is also used in combination with the mammography for the diagnosis of DCIS. Three grades of DCIS are ultimately recognized: grade 1/low grade, grade 2/intermediate grade, and grade 3/high grade. Several options are available for the management of DCIS, including breast-conserving surgery, with or without postoperative radiotherapy, and with the clear margin being the most important factor for reducing risk of local recurrence. A 2 mm margin is superior to <2 mm, but there was no significant difference in relapse rate in those with margins of 2 or 5 mm when combined with radiotherapy. The use of mastectomy for treatment of DCIS has declined steadily. Sentinel lymph node biopsy (SLNB) should be performed on patients undergoing mastectomy for DCIS, and a case-by-case decision should be made to perform SLNB in patients who have a high risk DCIS or large tumours. Prospective and retrospective studies have demonstrated excellent long-term results after BCS and radiotherapy, as opposed to BCS alone that has shown a higher rate of local recurrence. Tamoxifen also reduces ipsilateral and contralateral breast cancer events in women with DCIS and is the only systemic therapy approved by Food Drug Administration for this disease. Aromatase inhibitors and other targeted therapies are currently being evaluated in ongoing studies.

Expression of E2F-1, Rb and ER in Peripheral Papil-loma and Ductal Carcinoma in Situ of the Breast and its Significance

OBJECTIVE To investigate the correlation of E2F-1, Rb and ER expression with peripheral papilloma （Peri-PM） and ductal carcinoma in situ of the breast （DCIS）, and further explore some molecular mechanisms of the canceratin of Peri-PM.METHODS Imunohistochemistry was used to examine the expression of E2F-1, Rb and ER in 60 Peri-PM, 60 Peri-PM with atypical ductal hyperplasia （Peri-PM with ADH） and 60 DCIS. Normal breast tissues were selected as a control group.RESULTS Based on immunohistochemical staining, the positive rate of E2F-1 expression in Peri-PM, Peri-PM with ADH and DCIS was 21.7%, 46.7% and 78.3% respectively. The positive rate of Rb expression was 83.3 %, 53.9% and 21.7% and the ER expression was 86.7%,61.7% and 55.0%. Significant differences were found among the 3 groups （Peri-PM, Peri-PM with ADH and DCIS） （P〈0.05）. Significant differences existed between any 2 groups （P〈0.05） except for the rate of ER positive expression comparing Peri-PM with ADH verus DCIS （P〉0.05）. The expression of E2F-1 was nega- tively correlated with ER and Rb, and at the same time the expression of ER was positively correlated with Rb. Following the degree of breast epithelial hyperplasia involved and its development into carcinoma, the positive rate of E2F-1 expression displayed an elevating tendency, but that of Rb and ER expression showed a tendency to decline.CONCLUSION The interaction of the 3 indexes studied may play an important role in the conversion of precancerous lesions to early in situ breast carcinoma, and the evaluation of these indexes might provide a valuable basis for screening high-risk cases of Peri-PM.

Comparison of the underestimation rate in cases with ductal carcinoma in situ at ultrasound-guided core biopsy: 14-gauge automated core-needle biopsy vs 11-gauge vacuum-assisted biopsy

Objective： The objective of this study was to compare the underestimation rate of invasive carcinoma cases with ductal carcinoma in situ （DCIS） at percutaneous ultrasound-guided core biopsies of breast lesions between 14-gauge automated core needle biopsy （ACNB） and 11-gauge vacuum-assisted biopsy （VAB）, and analyze the diagnostic advantages and insufficiencies in DCIS between this two methods, and to determine the relationship between the lesion type （masses or microcalcifications on radiological findings ） and DCIS underestimation rate. Methods： We collected 152 breast lesions which were diagnosed as DCIS by retrospectively reviewing data about ultrasound-guided biopsies of breast lesions （from February 2003 to July 2010）. There were 98 lesions in 95 patients by 14-gauge ACNB, and 54 lesions in 52 patients by 11-gauge VAB （The system used in this study called Mammatome, MMT）. The clinical and radiological findings were reviewed; meanwhile all the selected patients had histological results of the biopsies and follow-up surgeries which also achieved the reliable pathological results to compare with the biopsy results. The differences between two correlated histological results defined as underestimation, and the histological DCIS underestimation rates were compared between the two groups. According to the radiological characteristics, each group was classified into two subgroups （masses or micrecalcifications group）, and the differences between subgroups were also analyzed. Results： The DCIS underestimation rate was 45.9% （45/98） for 14-gauge ACNB and 16.6% （9/54） for MMT. According to the lesion type on ultrasonography, DCIS underestimation was 31.0% （26/84） in masses （43.1% using ACNB and 12.1% using MMT; P = 0.003） and 42.6% （29/68） in microcalcifications （48.9% using ACNB and 23,8% using MMT; P = 0,036）, Conclusion： The underestimation rate of invasive carcinoma in cases with DCIS at ultrasound-guided core biopsies is significantly higher for ACNB than for MMT. Furthermore, this difference does not alter among the two lesion types presented on ultrasonography. So ultrasound-guided VAB （MMT system） could be an effective and useful method for the diagnosis of DCIS lesions no matter what the lesion type is.

The Impact of Ethnicity on the Incidence, Tumor Characteristics and Treatment of Ductal Carcinoma in Situ—An 11-Year Clinical Experience at a High Volume Teaching Hospital

Introduction: Screening mammography has led to a marked increase in detection of in situ breast tumors in the United States. The University of Southern California/Van Nuys Prognostic Index (USC/VNPI) predicts the recurrence rates of ductal carcinoma in situ (DCIS);however variations in tumor characteristics, USC/VNPI scores, receptor and human epithelial growth factor receptor (HER)-2/neu status across different ethnicities/races have not been well studied. This study aimed to evaluate the racial trends in incidence, patient demographics, tumor characteristics and treatment variations for patients with DCIS at a high volume teaching hospital. Methods: 395 women underwent surgical intervention for DCIS between 2000 and 2011. Their race/ethnicity was divided into five mutually exclusive categories and demographic and clinicopathological data was collected. Multivariate analysis was performed to evaluate variations in patient and tumor factors with respect to age, size and surgical management among different ethnicities and races. Results: 82.1% of Caucasian women underwent simple mastectomy with sentinel lymph node biopsy (SLNB) while lumpectomy with SLNB was highest in Hispanics (40%, p = 0.005). Overall, there was no significant difference in the incidence of receptor or HER-2/neu positivity, multicentricity, necrosis or grade of DCIS in the various racial groups, but there was a significant racial difference in the USC/VNPI scores (p < 0.001). Conclusion: On a community level, screening detected DCIS accounted for the vast majority of DCIS diagnosed, which reflected national trends. Although no racial variation in DCIS with respect to patient or tumor characteristics was observed, a racial difference in USC/VNPI score was identified among the Hispanic population. Additional studies are required to validate the significance of these findings.

Immunohistochemical Biomarkers in Ductal Carcinoma <i>In Situ</i>

Introduction: Breast ductal carcinoma In Situ (DCIS) can be defined as a malignant epithelial proliferation with growth limited by the basal membrane of the ductal epithelium, with no evidence of stromal invasion. There has been a trend of trying to subcategorize DCIS based on cell proliferation assays (Ki67) and the expression of hormone receptors and the human epidermal growth receptor (HER-2) as detected by immunohistochemistry, similar to invasive breast carcinomas (IBC). The aims were to evaluate the expression of breast cancer marker proteins in DCIS by immunohistochemistry to better categorize it. Methods: 46 biopsies from women with DCIS and IBC Luminal A-like were evaluated by immunohistochemistry staining of proteins already known to be biomarkers in IBC. For controls, normal breast tissue from mammoplasty (n = 3) was used. Results: Our results showed an increase of estrogen receptor (ER) and progesterone receptor (PR) expression relative to that in normal tissue samples (p < 0.0001). No differences in steroid hormone expression patterns were seen between DCIS and IBC tumors (p = 0.3145;p = 0.7341, respectively). The proliferation levels of the DCIS and IBC samples were similar as evaluated by the Ki67 labeling index. Only 12.90% of samples showed amplification of HER-2. Conclusion: The biology of DCIS is not well understood given the complexity and heterogeneity of the disease, which makes it important to better sub-categorize this tumor, especially considering the possibility of identifying DCIS cases with the potential for recurrence and evolution into IBC.

Low-Grade and High-Grade Invasive Ductal Carcinomas of the Breast Follow Divergent routes of Progression

Low-grade invasive ductal carcinoma is almost diploid, and has frequent losses of chromosome 16q, which is shared by other precancerous lesions of the mammary gland such as flat epithelial atypia （FEA）, atypical ductal hyperplasia （ADH）, and lownuclear grade ductal carcinoma in situ （DCIS）. The genetic alterations accumulate in a stepwise fashion as the precancerous lesions progress to invasve ductal carcinoma. This supports the linear progression model of breast cancer from FEA, through ADH, to low- nuclear grade DCIS as non-obligate early events in low-grade IDC evolution. In contrast, high-grade carcinoma tends to aneuploidy with complex genetic alterations--most importantly, frequent gains at chromosome 16q. Frequent losses at chromosome 16q in low-grade IDC and gains in the same arm of the same chromosome in high-grade IDC imply that these lesions are two end outcomes of different disease processes and that they do not lie in the same continuum of a process. Therefore, low-grade and high-grade IDC are two distinct diseases with a divergent route of progression.

非肿块型DCIS影像学特点与临床病理特征及分子分型的相关性分析

目的:探讨非肿块型乳腺导管内原位癌(DCIS)影像学特点,并分析影像学特点与临床病理特征及分子分型关系。方法:选取2020年6月至2021年6月在我院接受手术治疗的100例非肿块型DCIS患者作为研究对象,进行超声影像分分型,分别为Ⅰ型31例,Ⅱ型15例、Ⅲ型43例及Ⅳ型11例。免疫组化检测病理组织雌激素受体(ER)、孕激素受体(PR)、人类表皮生长因子受体2(HER2)及Ki-67阳性表达;按照St.Gallen标准对患者进行Luminal A型及Luminal B型分子分型。结果:Ⅰ型:导管出现增粗,行走迂曲且管腔内出现低回声;Ⅱ型:乳腺内呈现片状的低回声区域,边界模糊;Ⅲ型:乳腺内呈现片状的低回声区域,可见分布不匀的点状强回声;Ⅳ型:乳腺内腺体及导管分布混乱,结构扭曲;Ⅰ型、Ⅱ型、Ⅲ型及Ⅳ型非肿块型DCIS患者临床病理资料年龄、肿瘤直径、月经状态、病灶部分、临床症状均无统计学差异(P>0.05),随着超声分型级别的升高细胞核分级也随之升高(P<0.05);Ⅰ型、Ⅱ型患者HER2阳性表达差异无统计学意义(P>0.05),与Ⅰ型相比,Ⅲ型及Ⅳ型的HER2阳性表达升高(P<0.05);与Ⅱ型相比,Ⅲ型的HER2阳性表达升高,但与Ⅳ型差异无统计学意义(P>0.05),Ⅲ型与Ⅳ型的HER2阳性表达组间比较差异无统计学意义(P>0.05);与Ⅰ型相比,Ⅲ型患者Luminal A型、Luminal B型分型分布升高(P<0.05),与Ⅰ型相比,Ⅳ型患者Luminal B型分型分布升高(P<0.05),Luminal A型差异无统计学意义(P>0.05)。结论:非肿块型DCIS患者超声主要为钙化型,认为结构紊乱型患者细胞核分级较高,且HER2阳性表达较多,Luminal A型占比降低,Luminal B型占比升高。

乳腺导管原位癌的影像学表现与分子分型、组织病理学分级及预后相关性的研究进展

乳腺导管原位癌(ductal carcinoma in situ,DCIS)是一种局限于乳腺终末导管,未突破基底膜的乳腺癌病理类型,与浸润性导管癌(invasive ductal carcinoma,IDC)关系密切,被认为是其前驱病变。当DCIS突破基底膜侵入周围组织可形成浸润灶,若单个浸润灶最大径线小于1 mm或多个浸润灶中最大者径线小于1 mm时,即定义为导管原位癌伴微浸润(ductal carcinoma in situ with microinvasion,DCIS-Mi),12%~40%未经治疗和干预的DCIS会进展为IDC,DCIS和IDC可同时存在;但也有相当一部分DCIS始终不会进展,预后相对较好,DCIS的过度诊断和治疗成为目前的关注点。DCIS的组织学分级主要依据细胞核的形态分为低、中、高3个核级,受体的表达情况、分子分型的分布在DCIS、DCIS-Mi和IDC之间也存在着显著差异。伴或不伴微浸润及不同组织学分级的DCIS的临床处理方式、治疗方案、预后及患者风险收益情况有较大差别,也一直存在较多争议。现代影像学技术的发展初步实现了对其组织学分级、浸润情况及患者预后的评估。目前临床上最常用的乳腺影像学检查技术主要有钼靶X线摄影(mammography,MG)、超声和磁共振成像(magnetic resonance imaging,MRI)等,3种检查技术的成像原理不同,在乳腺疾病影像诊断中各有优势和不足,但又可互为补充,在病变诊断、治疗及预后评估中发挥着重要的作用。乳腺钼靶X线摄影具有安全可靠、重复性好的优点,是国际指南推荐的首选的乳腺癌筛查方式,DCIS在钼靶X线片上的主要表现可分为非钙化型病变和钙化型病变;在超声上主要表现为肿块型和非肿块型病变,后者又可分为低回声改变、钙化、导管改变和结构紊乱扭曲等;MRI对不伴钙化及多灶性DCIS的检出比钼靶X线摄影敏感性更高,对病变范围的评估准确性更高,但也存在诊断特异性不高、对微钙化显示不敏感等不足;此外,影像组学在DCIS的组织病理学评估预测及指导个体化精准治疗方面潜力巨大。在当前精准医疗时代,影像学特征、组织病理学检查结果、基因检测结果等在预测患者预后方面的价值日益显现,DCIS的早期精确诊断及明确分子分型在临床工作中亦极为重要。通过分子分型、组织学分级和影像表现来预测不同治疗可能带来的获益,以制订最合适的个体化治疗方案已成为目前临床治疗的共识。本文就DCIS的影像学表现与分子分型、组织病理学及预后方面的相关性研究新进展进行综述。

乳腺导管原位癌、导管原位癌伴微浸润及浸润性导管癌的分子分型差异性

目的:研究乳腺导管原位癌(DCIS)、导管原位癌伴微浸润(DCIS-MI)及浸润性导管癌(IDC)不同临床病理特征及分子分型间的差异。方法:回顾性分析本院2015年01月至2022年06月经病理确诊的乳腺癌患者。分析其临床病理资料,包括患者的年龄、雌激素受体(ER)、孕激素受体(PR)、人表皮生长因子受体-2(HER-2)、肿瘤细胞增殖活性标记物(Ki-67)、分子分型。采用χ^(2)检验或Fisher确切概率法比较三组患者临床病理表现的差异性。结果:本研究共计选取患者1167例,其中DCIS组为180例(15.42%),DCIS-MI组为67例(5.74%),IDC组为920例(78.83%)。DCIS、DCIS-MI及IDC患者在ER、PR、HER-2、Ki-67中阳性分布及分子分型均有显著差异,具有统计学意义(P<0.05),DCIS-MI患者多以HER-2过表达型为主,ER、PR状态多呈阴性,HER-2多呈阳性,高核分级。DCIS患者多以Luminal A型为主,Ki-67多呈低表达。高核级别、HER-2过表达、ER阴性、PR阴性是影响并促进乳腺DCIS进展为DCIS-MI的预测因子。IDC患者多以Luminal B型为主,ER、PR状态多呈阳性,Ki-67多呈高表达。而在年龄分布上无差异,无统计学意义(P>0.05)。结论:乳腺DCIS、DCIS-MI及IDC间免疫组化标记物和分子分型分布不同,与DCIS相比,DCIS-MI核异型性多呈高核分级,ER、PR阴性比例多,HER-2过表达型比例多,考虑DCIS-MI是独立存在的一种病变,较DCIS有“质”的改变,提示两者处于乳腺癌进展的不同阶段。