Synchronous multiple primary malignant neoplasms in breast,kidney,and bilateral thyroid:A case report

BACKGROUND Multiple primary malignant neoplasms(MPMNs)are rare,while synchronous MPMNs(SMPMNs)are even less common.Owing to the progression of medical technology and the extension of life expectancy,its incidence is gradually increasing.CASE SUMMARY Although reports of breast and thyroid dual cancers are common,cases of an additional diagnosis of kidney primary cancer within the same individual are rare.CONCLUSION We present a case of simultaneous MPMN of three endocrine organs,reviewing the relevant literature to enhance our understanding of SMPMNs while emphasizing the increasingly important need for accurate diagnosis and multidisciplinary management whenever this challenging situation arises.

Synchronous manifestation of colorectal cancer and intraductal papillary mucinous neoplasms

High rates of extrapancreatic malignancies,in particular colorectal cancer(CRC),have been detected in patients with intraductal papillary mucinous neoplasm(IPMN).So far,there is no distinct explanation in the literature for the development of secondary or synchronous malignancies in patients with IPMN.In the past few years,some data related to common genetic alterations in IPMN and other affiliated cancers have been published.This review elucidated the association between IPMN and CRC,shedding light on the most relevant genetic alterations that may explain the possible relationship between these entities.In keeping with our findings,we suggested that once the diagnosis of IPMN is made,special consideration of CRC should be undertaken.Presently,there are no specific guidelines regarding colorectal screening programs for patients with IPMN.We recommend that patients with IPMNs are at high-risk for CRC,and a more rigorous colorectal surveillance program should be implemented.

Impact of Genetic Algorithm for the Diagnosis of Breast Cancer: Literature Review

In recent research from the total number of new cancer cases in Africa about 29.46% and in Ethiopia 31.85% are breast cancer cases. 25.84% of all cancer related death is from breast cancer. One of the challenges in the treatment of breast cancer is early detection. Researchers agreed that, improving the preventive mechanism of breast cancer is an early predicting and detecting model. Research efforts are continuing to present different solution approaches using advanced techniques of Artificial intelligence (AI), Machine learning (ML), Deep Learning (DL), and Computational Intelligence as well. A genetic algorithm is a hyper-parameter optimization algorithm that belongs to the class of evolutionary algorithms. Genetic Algorithm (GA) is used for complex search spaces for search and optimization. This reviewed literature paper shows the positive effect of GA in the diagnosis of breast cancer on AI algorithms.

Violence against Women with Breast Neoplasms

The aim of this study is to assess the occurrence and type of violence suffered by women with breast cancer in the High Complexity Care Unit of a municipality in the South of Minas and patients in a support group of the University of the South of Minas Gerais. For that aim, a descriptive-exploratory methodology was applied through the quantitative method. Data were collected through a semi-structured form applied in individual interviews over a period of three months. We interviewed 57 patients and among those, 20 women （35.08%） reported having experienced some form of violence at some stage of their life, and the most frequently mentioned was the psychological violence followed by physical aggression. Although it was possible to identify that violence against affected these women, complaints against the aggressor were not affected.

The accuracy of magnetic resonance imaging and ultrasound in evaluating the size of early-stage breast neoplasms

Objective Breast cancer is the most frequently diagnosed cancer in women. Accurate evaluation of the size and extent of the tumor is crucial in selecting a suitable surgical method for patients with breast cancer. Both overestimation and underestimation have important adverse effects on patient care. This study aimed to evaluate the accuracy of breast magnetic resonance imaging(MRI) and ultrasound(US) examination for measuring the size and extent of early-stage breast neoplasms.Methods The longest diameter of breast tumors in patients with T_(1–2)N_(0–1)M_0 invasive breast cancer preparing for breast-conserving surgery(BCS) was measured preoperatively by using both MRI and US and their accuracy was compared with that of postoperative pathologic examination. If the diameter difference was within 2 mm, it was considered to be consistent with pathologic examination.Results A total of 36 patients were imaged using both MRI and US. The mean longest diameter of the tumors on MRI, US, and postoperative pathologic examination was 20.86 mm ± 4.09 mm(range: 11–27 mm), 16.14 mm ± 4.91 mm(range: 6–26 mm), and 18.36 mm ± 3.88 mm(range: 9–24 mm). US examination underestimated the size of the tumor compared to that determined using pathologic examination(t = 3.49, P < 0.01), while MRI overestimated it(t =-6.35, P < 0.01). The linear correlation coefficients between the image measurements and pathologic tumor size were r = 0.826(P < 0.01) for MRI and r = 0.645(P < 0.01) for US. The rate of consistency of MRI and US compared to that with pathologic examination was 88.89% and 80.65%, respectively, and there was no statistically significant difference between them(χ~2 = 0.80, P > 0.05).Conclusion MRI and US are both effective methods to assess the size of breast tumors, and they maintain good consistency with pathologic examination. MRI has a better correlation with pathology. However, we should be careful about the risk of inaccurate size estimation.

Should multi-gene panel testing replace limited BRCA1/2 testing? A review of genetic testing for hereditary breast and ovarian cancers

Clinical testing of patients for hereditary breast and ovarian cancer syndromes began in the mid-1990s with the identification of the BRCA1 and BRCA2 genes.Since then,mutations in dozens of other genes have been correlated to increased breast,ovarian,and other cancer risk.The following decades of data collection and patient advocacy allowed for improvements in medical,legal,social,and ethical advances in genetic testing.Technological advances have made it possible to sequence multiple genes at once in a panel to give patients a more thorough evaluation of their personal cancer risk.Panel testing increases the detection of mutations that lead to increased risk of breast,ovarian,and other cancers and can better guide individualized screening measures compared to limited BRCA testing alone.At the same time,multi-gene panel testing is more time-and cost-efficient.While the clinical application of panel testing is in its infancy,many problems arise such as lack of guidelines for management of newly identified gene mutations,high rates of variants of uncertain significance,and limited ability to screen for some cancers.Through on-going concerted efforts of pooled data collection and analysis,it is likely that the benefits of multi-gene panel testing will outweigh the risks in the near future.

Genetic Variants in the ELOVL5 but not ELOVL2 Gene Associated with Polyunsaturated Fatty Acids in Han Chinese Breast Milk

The present study was designed to examine the contributions of the fatty acid elongase （ELOVL） gene polymorphisms to the levels of polyunsaturated fatty acids （PUFAs） in breast milk. Two hundred and nine healthy Han Chinese mothers were included in the study. Carriers of minor alleles of SNPs （rs2397142 and rs9357760） in ELOVL5 were associated with higher levels of linoleic acid （LA）, dihomo-γ-linolenic acid （DGLA）, arachidonic acid （AA）, docosatetraenoic acid （DTA）, docosahexenoic acid （DHA）, while in rs209512 of ELOVL5 the carriers of minor alleles had lower levels of DTA compared to major homozygote alleles （P ranged from 0.004-0.046）, and genetically explained variability ranged from 3.2% for eicosapentaenoic acid （EPA） to 6.0% for LA. Our findings demonstrated that common variation in ELOVL5 gene encoding rate-limiting enzymes in the metabolism of PUFAs contribute to the PUFAs in breast milk.

Clinicopathological analysis of early-stage breast cancer patients that meet indications for BRCA 1/2 genetic testing

Objective:To investigate the clinicopathological characteristics and prognostic factors of early-stage breast cancer patients with indications for breast cancer susceptibility genes 1/2(BRCA1/2)genetic testing in China.Methods:Based on the indication criteria for BRCA genetic testing specified in the National Comprehensive Cancer Network(NCCN)clinical practice guidelines in oncology,genetic/familial high-risk assessment:Breast and ovarian(Version 2.2019),a retrospective analysis was performed on patients with early-stage invasive breast cancer treated at Breast Disease Center,Peking University First Hospital between January 2008 and December 2016.Clinicopathological characteristics of all patients were analyzed,and prognoses were calculated using the KaplanMeier method and a Cox proportionate hazards model.Results:A total of 906 early-stage breast cancer patients who had indications for BRCA genetic testing and had complete clinicopathological data and follow-up information were included in the study group,accounting for34.7%of all breast cancer patients treated in Breast Disease Center,Peking University First Hospital during the study period.Compared with breast cancer patients without indications for BRCA genetic testing,the overall survival(OS)and disease-free survival(DFS)of patients with indications were not significantly different.In the study group,patients with premenopausal status,high T stage,lymph node positive,estrogen receptor(ER)negative,Ki-67>20%and presence of a vascular tumor thrombus had worse prognosis.There were more family histories of gastrointestinal cancer in patients with related indications than in patients without such indications.Conclusions:Single-center data showed that more than 30%of patients with early-stage breast cancer had indications for BRCA genetic testing.There was no prognostic difference in patients with or without indications for BRCA genetic testing.Premenopausal status,high T stage,lymph node positive,ER negative,Ki-67>20%,and presence of a vascular tumor thrombus were associated with poor prognosis.

Breast cancer: Epidemiology, risk factors and screening

Breast cancer is a global health concern with a significant impact on the well-being of women. Worldwide, the past several decades have witnessed changes in the incidence and mortality of breast cancer. Additionally,epidemiological data reveal distinct geographic and demographic disparities globally. A range of modifiable and non-modifiable risk factors are established as being associated with an increased risk of developing breast cancer.This review discusses genetic, hormonal, behavioral, environmental, and breast-related risk factors. Screening plays a critical role in the effective management of breast cancer. Various screening modalities, including mammography,ultrasound, magnetic resonance imaging(MRI), and physical examination, have different applications, and a combination of these modalities is applied in practice. Current screening recommendations are based on factors including age and risk, with a significant emphasis on minimizing potential harms to achieve an optimal benefits-to-harms ratio. This review provides a comprehensive insight into the epidemiology, risk factors, and screening of breast cancer. Understanding these elements is crucial for improving breast cancer management and reducing its burden on affected individuals and healthcare systems.

Breast reconstruction:Review of current autologous and implantbased techniques and long-term oncologic outcome

Implant-based reconstruction is the most common method of breast reconstruction.Autologous breast reconstruction is an indispensable option for breast reconstruction demanding keen microsurgical skills and robust anatomical understanding.The reconstructive choice is made by the patient after a discussion with the plastic surgeon covering all the available options.Advantages and disadvantages of each technique along with long-term oncologic outcome are reviewed.

Genetic polymorphisms in genes regulating cell death and prognosis of patients with rectal cancer receiving postoperative chemoradiotherapy

Objective:The identification of biomarkers for predicting chemoradiotherapy efficacy is essential to optimize personalized treatment.This study determined the effects of genetic variations in genes involved in apoptosis,pyroptosis,and ferroptosis on the prognosis of patients with locally advanced rectal cancer receiving postoperative chemoradiotherapy(CRT).Methods:The Sequenom MassARRAY was used to detect 217 genetic variations in 40 genes from 300 patients with rectal cancer who received postoperative CRT.The associations between genetic variations and overall survival(OS)were evaluated using hazard ratios(HRs)and 95%confidence intervals(CIs)computed using a Cox proportional regression model.Functional experiments were performed to determine the functions of the arachidonate 5-lipoxygenase(ALOX5)gene and the ALOX5 rs702365 variant.Results:We detected 16 genetic polymorphisms in CASP3,CASP7,TRAILR2,GSDME,CASP4,HO-1,ALOX5,GPX4,and NRF2 that were significantly associated with OS in the additive model(P<0.05).There was a substantial cumulative effect of three genetic polymorphisms(CASP4 rs571407,ALOX5 rs2242332,and HO-1 rs17883419)on OS.Genetic variations in the CASP4 and ALOX5 gene haplotypes were associated with a higher OS.We demonstrated,for the first time,that rs702365[G]>[C]represses ALOX5 transcription and corollary experiments suggested that ALOX5 may promote colon cancer cell growth by mediating an inflammatory response.Conclusions:Polymorphisms in genes regulating cell death may play essential roles in the prognosis of patients with rectal cancer who are treated with postoperative CRT and may serve as potential genetic biomarkers for individualized treatment.

AN EPIDEMIOLOGY AND MOLECULAR GENETIC STUDY ON BREAST CANCER SUSCEPTIBILITY

Objectives. To investigate the genetic susceptibility for breast cancer of Chinese, a hospital-based case-control study, pedigree survey and molecular genetic study were conducted. Methods. Logistic regression model and stratification methods were used in the risk factors analysis. Li-Mantel-Gart and Falconer methods were used to analyze the segregation ratio and heritability. Polymerase chain reaction(PCR) and polyacrylamide gel electrophoresis were used to detect AI, G-banding technique was used to detect the chromosome aberration of peripheral blood lymphocyte. Results. Family history of breast cancer is related to enhanced breast cancer risk significantly, OR is 3905(95%CI=1079～1413), and it widely interacts with other risk factors. Accumulative incidence of breast cancer in first degree relatives is 999%, which is larger than that in second, third degree and non-blood relatives. Segregation ratio is 0021, heritability among first degree relatives is 356±58%. Frequencies of LOH at BRCA1 and BRCA2 loci in sporadic breast cancer are 612% and 577% respectively. In the sibs, both of them show LOH at D13S173 locus, and high frequencies of chromosome aberrations were observed. Conclusions. Genetic susceptibility contributes to breast cancer occurrence of Chinese, and its racial variation may be one of the important reasons for the large difference of incidence between western and eastern countries.

Granular cell tumor of the breast:A case report and review of literature

BACKGROUND Granular cell tumor(GCT)of the breast(GCTB)is a rare neoplasm that can exhibit malignant characteristics both clinically and radiologically.This tumor can also coexist and colocalize with breast carcinoma.CASE SUMMARY We present a patient with this uncommon tumor and discuss the diagnostic and therapeutic approaches in order to further the knowledge of GCTB and prevent misdiagnosis and overtreatment.The characteristics of the tumor,methods of diagnosis,therapy and postoperative pathological outcomes were analyzed,and relevant literatures of GCTs were reviewed.The patient underwent surgery after core needle biopsy,and the excised neoplasm was sent for pathological examination.Histological analysis revealed nests of cells with abundant pink granular cytoplasm,confirming the diagnosis of GCTB.CONCLUSION As manifestations of GCT and malignancy can mimic each other,a careful histological examination is essential before major surgery.Treatment consisting of complete excision with close clinical follow-up is recommended.

Role of Genetic Ancestry in Oropharyngeal Squamous-Cell Carcinoma: A Cross-Sectional Study in Brazil

Background: HPV infection represents an important etiologic factor for Oropharyngeal Squamous Cell Carcinoma (OPSCC). The different ethnic backgrounds could be related to different susceptibility to Human Papillomavirus (HPV). The aim of our study was to assess the whole of genetic ancestry in HPV status in OPSCC patients. Methods: We conducted a cross-sectional study on patients with OPSCC admitted to the Barretos Cancer Hospital, Brazil from 2014 to 2019. Of these, DNA extraction was performed on 40 patients and genetic ancestry was assessed using a specific panel of 46 informative ancestry markers. Results: We observed a predominance of European ancestry (63%), followed by African (18%), Amerindian (9%) and Asian (8%) both in the OPSCC HPV-positive and HPV-negative group. We did not find any statistically significant differences between the HPV-positive and HPV-negative OPSCC groups in relation to European (p = 0.499), African (p = 0.448), Asian (p = 0.275) or Amerindian (p = 0.836) ancestry. Conclusions: We found a predominance of European ancestry, both in the HPV-positive and HPV-negative groups. In our study, we did not find statistically significant differences between HPV-positive or HPV-negative groups in relation to ancestry.

Adjuvant therapy for hormone receptor-positive breast cancer: Perspective from a survey on breast cancer physicians' acceptance of practice-changing data

A cross-sectional online survey was conducted.A high proportion of the Chinese breast cancer(BC)physician respondents(n=77)would prescribe extended adjuvant endocrine therapy(AET)with aromatase inhibitors(AI)beyond 5 years for postmenopausal females with BC,especially those with higher risk.Respondents with≥15 years of clinical experience were more likely to prescribe a longer duration of AET for low-risk patients.Half of the respondents considered intermittent letrozole as an acceptable option.Most respondents would prescribe adjuvant chemotherapy to genomic high-intermediate risk[Oncotype DX recurrence score(RS)21-25]females aged≤50 years regardless of the clinical risk classification.

三阴型乳腺癌基于组织学、免疫组化分型的分析

目的探讨基于组织学、免疫组化的三阴型乳腺癌(triple-negative breast cancer,TNBC)分型标准,为完善TNBC分型治疗提供理论依据。方法根据组织学特点和免疫组化标志物AR、CD8、FOXC1的表达对TNBC进行分型,比较TNBC亚型的临床病理特征、预后差异。结果93例TNBC中腔面雄激素受体型23例(24.7%),免疫调节型24例(25.8%),基底样免疫抑制型39例(42.0%),间充质型7例(7.5%)。TNBC亚型的临床病理特征:pT分期(P=0.030)、组织学分级(P<0.001)、肿瘤间质淋巴细胞浸润模式(P<0.001)、PD-L1(P<0.001)、HER2低表达(P=0.024)差异均有统计学意义;各亚型间的无瘤生存率差异无统计学意义(P>0.05)。单因素分层生存分析:亚型间pT1分期的无瘤生存率差异有统计学意义(P=0.011),其余临床病理特征均为非独立预后因素。结论TNBC基于组织学、免疫组化分型的临床病理特征有差异,有望替代复杂基因表达谱分型,为TNBC分型和靶向治疗提供理论依据。

曲妥珠单抗联合氟维司群治疗晚期乳腺癌患者疗效安全性及预后影响

目的探讨曲妥珠单抗联合氟维司群治疗晚期乳腺癌患者疗效、安全性及对预后的影响。方法回顾性分析2016年6月至2017年4月于我院诊疗人表皮生长因子受体-2(HER2)阳性,雌激素受体(HR)+型晚期乳腺癌绝经女性患者60例作为研究对象,2组患者均已接受乳腺癌的常规手术,化疗和(或)放疗,靶向治疗(曲妥珠单抗)及内分泌治疗(他莫昔芬),其中,30例为使用曲妥珠单抗治疗的基础上联合氟维司群进行内分泌治疗的患者,作为研究组,同时期采用氟维司群内分泌治疗的30例患者作为对照组,2组患者均治疗6个月,6个月后2组均给予曲妥珠单抗和氟维司群的治疗。比较2组患者的治疗效果、不良反应、乳腺癌扩增性抗原1(AIB1)、激活转录因子3(ATF3)以及生活质量之间的差异;随访3年,对比2组术后生存期。结果①通过对所有患者的随访,随访率为97%(58/60),观察组患者的总生存期(OS)及无进展生存期(PFS)均显著高于对照组(P<0.05);②2组患者出现肝功能异常、低热、乏力等差异无统计学意义(P>0.05);③经过治疗后,2组患者的AIB1、ATF3水平显著降低,且观察组患者AIB1、ATF3水平显著低于对照组(P<0.05);④经过治疗后,2组患者的生理功能、生理职能、躯体疼痛、一般健康、精力、社会功能、情感职能、心理健康、总分显著升高,且观察组患者的生理功能、生理职能、躯体疼痛、一般健康、精力、社会功能、情感职能、心理健康、总分等均高于对照组(P<0.05);⑤治疗后,2组患者治疗客观有效率和疾病控制率差异有统计学意义,相较于对照组,研究组均较高(P<0.05)。结论晚期乳腺癌患者采用曲妥珠单抗治疗基础上联合氟维司群治疗,可以改善患者的AIB1、ATF3水平,提升患者的临床治疗效果和生活质量。

乳腺癌综合治疗的疗效随访

目的观察经免疫组织化学分型的乳腺癌综合治疗疗效,为临床治疗提供参考。方法随访山西省肿瘤医院2010年1月至2012年12月治疗的1240例乳腺癌患者,其中导管型883例;人表皮生长因子受体-2(HER-2)型260例;三阴性乳腺癌(TNBC)97例。保乳术(BCS)或术前新辅助化疗,或术后放化疗的共275例;改良根治术(IRM)和术前新辅助化疗,或术后放化疗的共965例。BCS和IRM后,均行术后常规患侧全乳房、全胸壁调强放疗(IMRT)和锁骨淋巴引流区放疗,DT约50 Gy。腋窝淋巴转移阳性者,补照腋窝区DT 60~70 Gy。雌激素受体(ER)阳性者,行辅助性内分泌治疗。HER-2阳性者,加用曲妥珠单克隆抗体靶向药物治疗。结果BCS和IRM患者的五年生存率分别是81.8%和78.2%(P>0.05),其中腋窝淋巴结无转移者为91.8%;1~3个淋巴结转移者为74.0%;4个以上转移者为63.0%。4个以上淋巴结转移者和无转移者五年生存率差异具有统计学意义(P<0.01)。导管型五年生存率为98.0%;HER-2型为37.7%;TNBC型为17.5%。结论导管型对内分泌治疗敏感,预后最好;HER-2型对抗HER-2靶向药物有效,预后居中;TNBC型具有较强的侵袭性,且对内分泌和靶向药物治疗效果有限,预后最差。免疫组织化学分型和腋窝淋巴结转移数的多少,是影响预后的重要因素之一。

经皮超声造影引导下穿刺活检诊断腋窝转移性淋巴结假阴性的风险模型构建与评估

目的:构建经皮超声造影引导下细针穿刺活检(pCEUS-FNAC)诊断乳腺癌腋窝转移性淋巴结假阴性的预测模型,探讨该模型在降低pCEUS-FNAC假阴性率的临床可行性及实用性。方法:回顾性收集2020年10月—2023年1月在我院术前行p CEUS-FNAC的浸润性乳腺癌伴腋窝淋巴结转移患者261例,以腋窝淋巴结手术病理结果为金标准,将病例分为腋窝淋巴结p CEUS-FNAC阳性组和pCEUS-FNAC阴性组,对比分析两组病例临床病理特征、超声征象的差异,采用单因素分析及多因素Logistic回归分析确定pCEUS-FNAC假阴性的危险因素。根据筛选出的危险因素建立列线图预测模型,通过受试者工作特征(ROC)曲线、校准曲线对、临床决策曲线分析(DCA)对模型进行评价。结果:pCEUS-FNAC诊断乳腺癌腋窝转移性淋巴结假阴性率为14.6%。多因素回归分析结果显示,肿瘤d_(最大径)>5 cm、呈多灶、pCEUSⅠ/Ⅱ型为pCEUS-FNAC假阴性的独立危险因素(P<0.05)。基于以上危险因素构建的预测模型在训练集和测试集ROC曲线下面积分别为0.790(0.687~0.893)、0.803(0.653~0.954),Hosmer-Lemeshow拟合优度检验分别为P=0.548、P=0.397,DCA显示模型曲线远离两条极端线。结论:乳腺癌d_(最大径)>5 cm、呈多灶、腋窝淋巴结pCEUSⅠ/Ⅱ型为pCEUS-FNAC假阴性的危险因素,据此构建的预测模型具有较好的区分度和校准度,并展现出良好的临床实用价值。