Diagnosis Of Breast Carcinoma Research Articles

Abstract PO1-08-06: Clinical-molecular correlation in breast cancer with pathogenic variants in CHEK2. Is there a relationship with HER2+ breast cancer?

Abstract Background: The CHEK2 gene codes for checkpoint protein Kinase 2 (CHK2), an effector in the ATM-CHK2-p53 DNA damage repair pathway in double-stranded DNA breaks. Initially, germline pathogenic variants were associated with moderate risk for breast carcinoma, but later studies linked alterations in the gene to other types of cancer. The aim of our study was to establish a clinical-molecular correlation of profiles of patients carrying pathogenic variants and variants of uncertain significance (VUS) in CHEK2 with a diagnosis of breast carcinoma, in patients treated in our hospital. And to describe whether the pathogenic variant c.1100del present different clinical or immunohistochemical characteristics than the rest, also considering the particularity of being an island population. Methodology: We have collected data from genetic studies performed in patients from our hospital, covering a population of 580,000 inhabitants, in Santa Cruz de Tenerife ( Canary Islands, Spain), between 2017 and 2023.Out of 952 patients with suspected hereditary cancer, 81 had CHEK2 mutations. In patients with CHEK2 mutations and breast cancer we established three groups for clinical molecular analysis: 1) pathogenic variant c.1100del, 2) other pathogenic variants and 3) VUS, to be correlated with age, histology, ER, PR, Ki, grade (G), HER2, second tumour or recurrence, subtype, HER2 low, aggressive clinic, neuropathy, haematological and digestive toxicity. The germline genetic study performed covered 77 genes related to hereditary cancer using the SureSelect HS library preparation kit (Agilent Technologies). The classification of the variants identified was performed according to the American College of Medical Genetics (ACMG) criteria. Results: In the 952 genetic studies performed, 8.5% of cases had CHEK2 mutations, 2.62% were related to breast carcinoma (N=26) of which 54% had the pathogenic variant “c.1100del”, 16% “other” pathogenic variants and 30% VUS. The mean age at diagnosis was 42 years, being lower than 38 years in pathogenic variants other than c.1100del. Histologically, infiltrating ductal carcinoma (85%) and mucinous carcinomas (12%), ER+ (93%), PR+ (77%), HER 2+ (31%), HER2 low (44%), G2-3 (84%) and Ki >15% (70%) were predominant. Second diagnoses were tumour or recurrence in 40%, being higher in the group of pathogenic variants other than c.1100del (50%), and showing aggressive clinical course in 26%. The predominant subtype was luminal B (50%), HER2+ (31%), luminal A (12 %) and triple negative (7%), although in the cluster analysis patients with pathogenic variant c.1100del HER2+ were higher (38%) and luminal B (38%), while in pathogenic variants other than c.1100del and VUS the luminal subtype was predominant (75%). Chemotherapy toxicity: neuropathy (35%), haematological and digestive toxicity (50%). Conclusion: Our results are consistent with other reported series, being related with all breast carcinoma subtypes, mainly luminal B and HER2+ and with triple negative at a lesser extend. Considering HER2 low patients were about 75% of patients with CHEK2 mutations, a molecular mechanism that correlates a truncating mutation in CHK2 and HER2 overexpression can be hypothesized. In the cluster analysis, HER2+ (38%), and luminal B (38%) subtypes predominate in patients with pathogenic variant c.1100del, while in pathogenic variants other than c.1100del and VUS the luminal B subtype predominates (75%), as well as recurrence or second tumours in 50% of cases. On the other hand, considering that this is an island population, the possible effect of geographical isolation and the resulting inbreeding in the past, these facts do not seem to elicit differences comparing to the rest of the continental population, although the increase in pathogenic variants in CHEK2 were observed in patients from the small island of La Gomera. The relationship between CHEK2 and HER2 in breast cancer is an area of active research. Relative frequency in groups of CHEK2 variants Relative frequency in CHEK2 “ pathogenic variants c.1100 del (53%)”, “other”pathogenic variants no c.1100 del (15 %)" and VUS (30%). Relative frequency of breast cancer subtypes according to CHEK2 variants. HER2+: 30,8%. Luminal A: 11,5% . Luminal B: 50%. Triple negative: 7,7% . Histology, ER, PR, Ki, HER2 and HER2 low Histology , infiltrating ductal carcinoma (84%), ER+ (92%), PR (77%), Ki >15% (70%), HER2+ (31%), HER2 low (45%) Citation Format: Natalia Pérez-Rodríguez, Carol Prieto-Morin, Maria del Carmen Maeso, Lina Pérez-Mendez. Clinical-molecular correlation in breast cancer with pathogenic variants in CHEK2. Is there a relationship with HER2+ breast cancer? [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO1-08-06.

Abstract PO5-07-10: CONTRAST MAMMOGRAPHY FOR PREOPERATIVE STAGING OF PATIENTS WITH EARLY BREAST CANCER: PRELIMINARY RESULTS

Abstract a) Brief description of the objective(s) The aim of this study is to compare contrast-enhanced mammography (CM) with magnetic resonance imaging (MRI) for preoperative locoregional staging of patients with early-stage breast cancer. b) Material(s) and method(s) Prospective, single-center study, approved by the Research Ethics Committee, which included patients with a histological diagnosis of invasive breast carcinoma, candidates for initial medical treatment. Patients treated with neoadjuvant chemotherapy and those in whom the tumor was completely resected in the initial biopsy were excluded. CM and MRI were performed in the week before surgery and the anatomopathological result of the surgical specimen was considered the gold standard. Pearson's modification (r) was used to compare tumor size between different methods. c) Results and discussion Thirty-seven patients were included, with a mean age of 54.5±6.9 years (43-70 years). The mean size of the tumors in pathology was 2.9±1.4 cm (1.1-8.0 cm) and the most common histological type was invasive ductal carcinoma (n=34;87.2%). The clinical stage was IA for 14 patients (37.8%) and IIA for 23 patients (62.2%). The main tumor was identified in 33 cases (89.2%) on conventional mammography and in all cases (100%) on both CM and MRI. There was excellent elasticity between tumor size measured on CM and MRI (r=0.897;p< 0.01). When compared with tumor size in pathology, both methods were adopted in a good way (p< 0.01), however, MRI was functionally superior to CM (r=0.847 vs. 0.683), while mammography conventional showed no therapeutic effect (r=0.222;p=0.21). Multifocal lesions were observed on CM in 2 cases (5.4%) and on MRI in 6 cases (16.2%), with 1 case confirmed as multifocal and the others presenting DCIS associated with the surgical specimen. Suspicious additional lesions were seen in 4 patients (10.8%) on CM and in 3 patients (8.1%) on MRI, of which one was confirmed as malignant in the contralateral breast, which had not been identified in previous exams. d) Conclusions CM showed good adaptability with MRI for assessing tumor size and searching for additional lesions, and may be a cheaper and more accessible alternative for preoperative staging in patients at an early clinical stage. Citation Format: Andressa Amorim, Andre Mattar, Almir Bitencourt, Paula Moraes, Flora Finguerman. CONTRAST MAMMOGRAPHY FOR PREOPERATIVE STAGING OF PATIENTS WITH EARLY BREAST CANCER: PRELIMINARY RESULTS [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO5-07-10.

Abstract PO2-20-05: Onco-Genome Brazil: Mapping Breast and Prostate Cancer in the Brazilian Public Health System

Abstract Background: Breast and prostate cancers are the most common malignancies diagnosed in women and men respectively, and present with great clinical heterogeneity, even in tumors with the same phenotypic characteristics. Somatic and germline molecular alterations in DNA may have prognostic and predictive impact, influencing response to therapies and overall survival. In addition, the evaluation of germline mutations can help identify individuals and families at higher risk for developing cancer. Aims: Our aim is to characterize the somatic and germline genomic landscape of women with locally advanced HER2-positive breast cancer and men with metastatic prostate cancer from Brazil. Secondarily, we aim to identify genetic variants associated with tumor prognosis and treatment response, identify patients carrying pathogenic alterations in cancer-predisposing genes, and characterize the genetic ancestry of the population included in the study. Trial design: This observational multicenter cohort study (NCT05306600) will include 550 adult patients from the five macro-regions of Brazil, divided into two arms: 1) breast cancer and 2) prostate cancer. Clinical and pathological data will be collected, as well as DNA samples from peripheral blood and tumor tissue. Whole-exome sequencing (WES) will be performed to identify variants that may be drivers and/or actionable in a specific patient or tumor. These variants will be interpreted and classified according to their population frequencies, in silico predictors, functional studies, and literature data, following international guidelines proposed by expert societies. This trial is supported by the Ministry of Health in Brazil and includes patients of the Public Health System. Eligibility criteria: In arm 1, the inclusion criteria are patients with a histological diagnosis of breast carcinoma with overexpression of HER-2, clinical stage II or III, and undergoing neoadjuvant treatment with chemotherapy plus trastuzumab. In arm 2, the criteria are patient with histological diagnosis of prostate adenocarcinoma, currently in clinical stage IV. Patients without availability of biological material collection are excluded from the study, as well as patients in whom there was no central confirmation of required histology. Statistical methods: Univariate and multivariate analyses will be conducted to evaluate the possible effect of specific genes or mutations on the investigated outcomes, including tumor prognosis and treatment response. Discussion: Currently, 265 participants have already been included in the study, 150 in arm 1 and 115 in arm 2. This trial will contribute to the construction of a robust database that should provide a better understanding of the genomic profile of patients with breast and prostate cancer in Brazil. For more information about the trial, please contact Daniela Rosa (daniela.rosa@hmv.org.br). Citation Format: Jaqueline Schuch, Cláudia Bordignon, Mahira Rosa, Angélica de Baumont, Marina Bessel, Gabriel Macedo, Daniela Rosa. Onco-Genome Brazil: Mapping Breast and Prostate Cancer in the Brazilian Public Health System [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO2-20-05.

Application and Prospects of Artificial Intelligence in Breast Cancer Early Diagnosis, Screening, and Treatment

In modern society, as artificial intelligence technology becomes increasingly mature, AI can already be utilized to assess and treat breast carcinoma. By summarizing results and data of experiments that use AI to help breast carcinoma diagnosis and cure, this article states the positive impact of AI on breast cancer screening, detection of breast cancer-related genes, and prediction of efficacy of breast cancer treatment drugs. What is more, illustrating the moral, legal, and social challenges encountered by scientists when they use artificial intelligence. Also, this article makes some suggestions for the future development of AI technology. The author believes that AI technology have the ability to contribute significantly to the diagnosis and cure of breast cancer and can enhance the chances of patients surviving to a considerable extent. However, currently, artificial intelligence technology remains in a relatively nascent stage, necessitating ongoing attention and dedicated efforts for its advancement.

Clinical outcomes of screening and diagnostic mammography in a limited resource healthcare system

IntroductionBreast cancer is a significant public health concern in Jordan. It is the most common cancer among Jordanian women. Despite its high incidence and advanced stage at time of diagnosis, the uptake of breast cancer screening in Jordan is low. This study aims to compare clinical outcomes of both screening and diagnostic mammogram among women in Jordan.MethodsA retrospective cohort of 1005 women who underwent mammography in breast imaging unit in a tertiary hospital in Jordan. It aimed to investigate outcomes of screening and diagnostic mammography. recall rates, clinical manifestations and cancer rates were investigated.ResultsA total of 1005 participants were involved and divided into screening group (n = 634) and diagnostic group (n = 371). Women in the diagnostic group were more likely to be younger, premenopausal, smokers with higher BMI. Among the screening group, 22.3% were labeled with abnormal mammogram, 26% recalled for ultrasound, 46 patients underwent tissue biopsy and a total of 12 patients had a diagnosis of breast carcinoma. Among the diagnostic group, the most commonly reported symptoms were a feeling of breast mass, mastalgia and nipple discharge. Abnormal mammogram was reported in 50.4% of women, a complementary ultrasound was performed for 205 patients. A diagnostic Tru-cut biopsy for 144 patients and diagnostic excisional biopsy for 17 patients were performed. A total of 131 had a diagnosis of carcinoma.ConclusionWith the high possibility of identifying a carcinoma in mammography among symptomatic women and low uptake of screening mammogram, efforts to increase awareness and improve access to screening services are crucial in reducing the burden of breast cancer in Jordan.

Mapping breast and prostate cancer in the Brazilian public health system: study protocol of the Onco-Genomas Brasil.

Breast and prostate cancers are the most common malignancies diagnosed in women and men respectively, and present with great clinical heterogeneity, even in tumors with the same histology and same site of origin. Somatic and germline molecular alterations in DNA may have prognostic and predictive impact, influencing response to therapies and overall survival. Our aim is to characterize the somatic and germline genomic landscape of women with locally advanced HER2-positive breast cancer and men with metastatic prostate cancer in Brazil. Secondarily, we aim to identify genetic variants associated with tumor prognosis and treatment response, identify patients carrying pathogenic alterations in cancer-predisposing genes, and characterize the genetic ancestry of the population included in the study. This observational multicenter cohort study will include 550 adult patients from the five macro-regions of Brazil, divided into two arms: 1) breast cancer and 2) prostate cancer. Clinical and pathological data will be collected, as well as DNA samples from peripheral blood and tumor samples. In arm 1, the inclusion criteria are a histological diagnosis of breast carcinoma with overexpression of HER-2, clinical stage II or III, and current neoadjuvant treatment with chemotherapy plus trastuzumab. In arm 2, the criterion is a histological diagnosis of prostate adenocarcinoma, clinical stage IV. Whole-exome sequencing (WES) will be performed to identify variants that may be drivers and/or actionable in a specific patient or tumor. These variants will be interpreted and classified according to their population frequencies, in silico predictors, functional studies, and literature data, following international guidelines proposed by expert societies. This trial will contribute to the construction of a robust database that should provide a better understanding of the genomic profile of patients with breast and prostate cancer in Brazil. Considering the miscegenation of the Brazilian population, knowledge generated from these data will have implications for future studies of this specific population. [clinicaltrial.gov], identifier [NCT05306600].

Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.

Breast cancer is the most common cancer among Indian females. There is limited data on germline profiling of breast cancer patients from India. The objective of the current study was to analyse the frequency and spectrum of germline variant profiles and clinicopathological characteristics of breast cancer patients referred to our Familial Cancer Clinic (FCC). It is a single-centre audit of patients with a confirmed diagnosis of breast carcinoma referred to our FCC from January 2017 to 2020. All patients underwent pretest counselling. Genetic testing was done by multigene panel testing by next-generation sequencing along with reflex multiplication ligation-dependent probe amplification for BRCA1 and 2. The variants were classified based on American College of Medical Genetics guidelines. Demographic and clinicopathological details were extracted from the case record files. One hundred and fifty-five patients were referred to the FCC and underwent pretest counselling. A total of 99 (63.9%) patients underwent genetic testing. Among them, 62 patients (62/99 = 62.6%) had a germline variant. A pathogenic/likely pathogenic (P/LP) germline variant was identified in 41 (41.4%) of the patients who underwent testing. Additional variants of unknown significance (VUS) were identified in seven patients who also carried a P/LP variant. VUS alone was detected in 21 patients (21/99 = 21.2%). Among the P/LP pathogenic variants (PV), BRCA 1 PV were seen in 27 patients (65.8%), BRCA 2 variants in 7 patients (17.1%), ATM variants in 3 patients (7.3%) and RAD51, TP53, CHEK2 and HMMR in 1 patient each. Variants were significantly more common in patients with a family history (FH) of malignancy than those without FH (58.5% versus 29.5%; p = 0.013). Age and triple-negative histology were not found to be significantly associated with the occurrence of P/LP PVs. We report a 41% P/LP variant rate in our selected cohort of breast cancer patients, with variants in BRCA constituting 83% and non-BRCA gene variants constituting 17%.

Metastatic profiles and survival differences between infiltrating ductal carcinoma and infiltrating lobular carcinoma in invasive breast cancer

BackgroundIn this study, we conducted a comprehensive evaluation of metastatic profiles and survival outcomes in patients with infiltrating ductal carcinoma (IDC) and infiltrating lobular carcinoma (ILC) treated at our university hospital center. MethodsWe collected and analyzed data from all patients diagnosed with invasive breast cancer at our center between January 1, 2007, and 31 December 2014. We specifically compared three subgroups: patients with IDC, patients with ILC and patients with mixed carcinoma, which is a combination of IDC and ILC. ResultsAmong the 1963 patients treated for invasive breast cancer in our center during the study period, 1435 had IDC, 466 had ILC, and 59 had mixed carcinoma. The incidence of patients with at least one positive axillary lymph node differed significantly: 40 % for IDC, 36 % for ILC, and 45 % for mixed carcinoma (p = 0.001). However, there was no significant difference in the mean number of positive nodes (p = 0.1633). The occurrence of distant metastases was lower in patients with ILC (p = 0.04), particularly in the case of brain metastases (p = 0.01), although there was no difference in bone or visceral metastatic sites. Patients with ILC exhibited a longer mean time to metastasis from the initial diagnosis of invasive breast carcinoma. Overall survival (p = 0.0525) and survival without locoregional recurrence (p = 0.026) were significantly different. Specifically, the 5-year overall survival rates for IDC, ILC, and mixed carcinoma were approximately 95 %. Distance metastatic-free survival at 5 years was 85 % for IDC, 91 % for ILC, and 87 % for mixed carcinoma (p = 0.00506). ConclusionOur findings indicate variations in the distribution of distant metastatic sites among patients with IDC, ILC, and mixed carcinoma, as well as differences in survival outcomes. This study sheds light on the unique characteristics and clinical implications associated with these two distinct subtypes of invasive breast cancer.

Clinical importance of serum miRNA levels in breast cancer patients

There is limited data on the relationship of miRNAs with parameters that may affect surgical management or reflect tumour prognosis. It was aimed to evaluate serum miRNA levels in breast carcinoma cases and reveal the relationship between these levels and prognosis-related factors such as the histological type of the tumour, estrogen receptor, progesterone receptor, Ki-67 index, HER-2neu, E-cadherin, tumour size, CK5/6, CA15.3 levels, number of tumour foci, number of metastatic lymph nodes, and status of receiving neoadjuvant therapy. Thirty-five patients with a histopathologically confirmed breast carcinoma diagnosis in the case group and 35 healthy individuals in the control group were examined. miR-206, miR-17-5p, miR-125a, miR-125b, miR-200a, Let-7a, miR-34a, miR-31, miR-21, miR-155, miR-10b, miR-373, miR-520c, miR-210, miR-145, miR-139-5p, miR-195, miR-99a, miR-497 and miR-205 expression levels in the serum of participants were determined using the Polymerase Chain Reaction method. While serum miR-125b and Let-7a expression levels were significantly higher in breast cancer patients, miR-17-5p, miR-125a, miR-200a, miR-34a, miR-21, miR-99a and miR-497 levels were significantly lower in them. The Let-7a expression level had a statistically significant relationship with breast cancer histological type and HER-2neu parameters, miR-17-5p, miR-125b, Let-7a, miR-34a, miR-21 and miR-99a levels with E-cadherin, miR-34a, miR-99a and miR-497 with CA15.3, miR-125b, miR-200a and miR-34a with the number of metastatic lymph nodes, miR-125a with the number of tumour foci and miR-200a with the status of having the neoadjuvant therapy. Serum miR-17-5p, miR-125a, miR-125b, miR-200a, Let-7a, miR-34a, miR-21, miR-99a and miR-497 expression levels were determined to have predictive and prognostic importance in breast cancer.

Modern visualization diagnostic methods of non-invasive breast carcinomas (review of literature)

Relevance. Breast carcinomas (BC) remain one of the most actual problems of modern oncology. According to statistics, the incidence of BC is steadily increasing, making it the most common cancer pathology among women. In this situation, the aspect of diagnosing BC at early, non-invasive stages, is certainly important, which still reduces mortality, increases the possibility of organ-preserving treatment, duration and quality of life of patients.The purpose of study. The purpose of study is to investigate and perform a comparative analysis of imaging techniques for the diagnosis of non-invasive breast carcinomas.Materials and methods. Modern Russian and foreign literature about the diagnosis of non-invasive breast carcinomas was analyzed. Publications not older than 7 years published in specialized medical editions were taken into account Results. Not only main, but also new, promising imaging modalities that are not currently part of routine practice were analyzed. The main imaging patterns in non-invasive breast carcinomas (DCIS, LCIS and Paget's breast cancer), feasibility and prognostic value of certain diagnostic methods in different nosologies of this disease were also discussed.Conclusion. The statistics provided explain the importance of breast carcinomas problem, as well as the relevance of its diagnosis at non-invasive stages. According to the authors, the issue of accurate diagnosis of breast cancer in situ is subject to further discussion and study, but we would like to note that when non-invasive breast carcinoma is suspected and doubtful imaging results are obtained, one should not limit oneself only to routine methods of imaging studies, but expand further diagnostic tactics until accurate results are obtained and a final diagnosis is made.

18F-FDG PET/CT in cutaneous calcinosis disease

A 18F-FDG PET/CT scan was conducted to evaluate the extent of recently diagnosed breast carcinoma in a 59-year-old patient. This was done following inconclusive results from a CT scan and bone scan, primarily due to extensive skin calcinosis complicating dermatomyositis. The PET/CT scan identified abnormal metabolic activity in the right breast and hypermetabolic lymph nodes. Interestingly, no other abnormal metabolic foci were found elsewhere in the body, despite discreetly diffuse hypermetabolic subcutaneous calcifications in the trunk and limbs. This underscores the diagnostic effectiveness of 18F-FDG PET/CT in such challenging cases.

Gastric metastasis and peritoneal carcinosis revealing primary breast cancer: an unusual presentation

Breast cancer is the most frequent cancer among women. Gastrointestinal tract metastases are uncommon and might be misidentified as primary carcinoma. A noteworthy case-study involved 53-year-old-woman complaining from epigastric pain, ascites and overall health decline. Initial investigations were inconclusive, prompting laparoscopic peritoneal biopsies which revealed independent cell proliferation. Subsequently, a second look upper digestive endoscopy showed multiple gastric ulcerations suggestive of gastric carcinoma. Histologic examination confirmed independent cell proliferation with estrogen receptors expression, a characteristic feature of breast carcinoma. Further investigations led to bilateral invasive lobular breast carcinoma diagnosis. Epirubicin cycophosphamide was prescribed after progression under letrozole ribocilib therapy. This case aims to raise awareness among clinicians about the importance of ruling out breast cancer in patients with peritoneal carcinosis and paying attention to digestive symptoms in breast cancer patients with careful gastric endoscopic examination to avoid misdiagnosis.

Comparison of machine learning models on breast cancer risk prediction challenge

Breast cancer is a malignant tumor that poses a serious risk to women's life and wellbeing. To make matters worse, this cancer is less symptomatic in its early stages. It is not easily diagnosed through traditional means. The topic of this essay is to investigate machine learning for the determination of breast cancer.. The methods based on machine learning are as followed: automated nuclear section segmentation model, BCRecommender System, DNNs, and computer-aided diagnosis model (CADM). The methods studied are all based on the BreCaHad dataset and use a comparative metric.To measure the performance of each model, the accuracy, F1-score, specificity, and precision are used. The result shows that the approaches based on machine learning work well in diagnosing breast carcinoma, with high accuracy. Most of them have a percentage over 90% in accuracy and some of them are even higher than 95%. However, some of the models work poorly, such as layer 1 of BCRecommender with 61.06% accuracy and EfficientNetB0 with 72.96%. With every aspect taken into consideration, computer-aided diagnosis (CADM: Using combined features of HOG, WPD, ResNet as well as PCA + SVM) has the greatest advantage in diagnosing BC.

Primary Mucinous Cystadenocarcinoma of the Breast: Clinicopathological Analysis of a Case and Difficulties Encountered in a Biopsy.

Background. With <40 case reports published in the English literature, mucinous cystadenocarcinoma of the breast is quite rare compared to its counterparts in the ovary, pancreas, and appendix. The purpose of this case report is to enrich scientific data by sharing the clinicopathological features of this new and extremely rare entity and present possible difficulties encountered in the biopsy materials. Case Report. A 34-year-old female patient presented with the complaint of white discharge from her left nipple lasting 8 months. Physical and radiological examination of the patient revealed a mass in the lower quadrant of the left breast and tru-cut biopsy was performed. The diagnosis of invasive breast carcinoma of no special type was reported. After neoadjuvant chemotherapy, left subcutaneous mastectomy and left sentinel lymph node biopsy were performed. Microscopic evaluation of the mastectomy material revealed a tumor consisting of stratified columnar cells with basally located nuclei and intracytoplasmic mucin, showing papillary structures and tufting toward the lumen. Peripheral myoepithelial cells were not identified with p63 and calponin immunohistochemistry. The diagnosis of mucinous cystadenocarcinoma was given through histomorphological and immunohistochemical evaluations. Conclusion. Clarifying unknown points about this rare malignancy of the breast and understanding the tumor biology is possible through evaluation of case reports. For this purpose, our case of primary mucinous cystadenocarcinoma is presented and its clinicopathological features are briefly discussed.

Gallbladder metastasis from occult lobular breast carcinoma: A case report

Abstract Introduction: Bones, lungs, brain and liver are the most common metastatic sites of breast carcinoma, although invasive lobular carcinoma can give metastases to less common sites, such as the gastrointestinal tract and the female genital tract. Case presentation: We present the case of a 57-year-old female with colic abdominal pain that was sent to surgery for cholecystectomy. Histopathology revealed a poorly cohesive individual or in single file neoplastic cells infiltrating all layers of the gallbladder. Immunohistochemistry revealed these cells to be CK 116, CK7, GCDFP-15, ER and PR positive, and CK20, HER-2, S-100 and E-cadherin negative. PET/CT showed numerous lytic bone lesions, but ultrasound, mammography, MRI and PET/CT revealed no breast mass. Conclusion: Although rare and poorly understood, metastases of invasive lobular carcinoma to gallbladder do exist in a minor percentage of patients, presenting usually as exacerbated cholecystitis. The problem are silent cases and patients with no history of breast carcinoma. This case is unique in that even after the diagnosis of metastatic lobular breast carcinoma to the gallbladder, the primary tumour of the breast was not detected.

Concordance Between Core Needle Biopsy and Surgical Specimens in Determining Molecular Biological Subtypes of Breast Cancer by Immunohistochemistry

Background: Breast carcinoma is the most common malignancy among women around the world. Core needle biopsy provides samples that are adequate in size thus allowing a histological diagnosis of breast carcinomas. CNB specimens can also be used for the immunohistochemical (IHC) assays of hormone receptors. Aims: To evaluate the concordance of ER, PR, HER2 Neu and Ki-67 in core needle biopsy and surgical specimens obtained by Modified radical mastectomy (MRM). Methods: A cross-sectional observational study was conducted in the Department of Pathology in association with the Department of Surgery at Murshidabad Medical College and Hospital for a duration of one and a half years. Patients undergoing Core needle biopsy of the breast who have been diagnosed with breast carcinoma on the basis of histopathology report and subsequently planned for MRM who have given consent for the study were included in this study. The samples were classified according to the immunohistochemical staining into four molecular subtypes: Luminal A, Luminal B, HER 2 Neu enriched, and triple-negative subtype depending on the expression of ER, PR, HER 2 Neu, and Ki-67. Result: The most common molecular subtype of breast carcinoma in both CNB and MRM specimens was the Triple-negative subtype. Conclusion: CNB has been found to be a reliable diagnostic tool that can help in determining Histopathological biomarkers for ER, PR positive, and HER2 Neu positive or negative tumors and it has also been found that retesting these markers again on the surgical specimens may not be necessary. Keywords: Core needle biopsy, Breast carcinoma, Molecular subtyping, Immunohistochemistry

Pituitary Metastasis Clinical Presentation of Diabetes Insipidus Six Years after Invasive Breast Carcinoma Diagnosis: Case Report

Introduction: Breast carcinomas are the major cause of death in women with cancer worldwide, mainly in metastatic cases. The pituitary gland stands for only 6-8% of the secondary sites of distant metastasis and it is usually asymptomatic. When symptomatic, these lesions can mimic primary pituitary diseases. Case report: A 43-year-old woman underwent a left mastectomy with axillary lymph node dissection in April 2013 due to a luminal, invasive ductal carcinoma with nodal metastasis. Six years later, she started complaining of myalgia, bone pain, dizziness and decreased visual acuity, in addition to polydipsia and polyuria. Laboratory tests showed hyperprolactinemia and diabetes insipidus suggestive of panhypopituitarism. Magnetic resonance imaging of the brain showed a sellar tumor with extension to adjacent structures which was removed on November 2019. A pathology report of an epithelial neoplasm of unknown origin and an immunohistochemical study showed positivity for estrogen, progesterone receptors and GATA 3, and negativity for pituitary hormones. This set of findings and the histological morphology were consistent with a metastatic mucinous adenocarcinoma of mammary origin without HER-2 overexpression. The patient underwent ovarian ablation, central nervous system radiotherapy, chemotherapy and oncological follow-up. Conclusion: The patient's young age and clinical presentation of visual impairment and sudden development of diabetes insipidus diverges from the current data, since these findings are usually present in asymptomatic women over sixty-years-old. The varied clinical presentation can lead to a delay in diagnosis of pituitary metastasis, which reinforces the importance of reporting cases like this.

TransNet: a comparative study on breast carcinoma diagnosis with classical machine learning and transfer learning paradigm

TransNet: a comparative study on breast carcinoma diagnosis with classical machine learning and transfer learning paradigm

Utility of Wnt family member 9b (Wnt9b) immunohistochemistry inthe cytologic diagnosis of metastatic breast carcinoma.

Wnt family member 9b (Wnt9b) has been demonstrated as a valuable marker for breast cancer diagnosis in surgical pathology. In this study, we examined the utility of Wnt9bin diagnosing metastatic breast carcinomaincytologysamples. Cell blocks from fine needle aspirations (FNA) and fluid specimens of 96 metastatic breast carcinomasand 123 primary and metastatic non-breast neoplasms from various organ systems were evaluated by Wnt9band GATA3 immunohistochemistry (IHC). Wnt9b and GATA3 were positive in 81.3%and 92.7%ofmetastaticbreast carcinomas, respectively. Conversely, 93.5%and 90.0%of non-breast, non-urothelial carcinomas were negative for Wnt9b and GATA3, respectively. Wnt9b expression was positive in rare gastrointestinal, gynecological, lung, pancreas, and salivary gland tumors. All twenty-eight urothelial carcinomas were negative for Wnt9b, while twenty-six (92.9%) were positive for GATA3. Wnt9b was slightly less sensitive but more specific than GATA3 in diagnosing metastatic breast cancer in cytology samples. Particularly, Wnt9b shows higher specificity in differentiating breast and urothelial primaries. The combined use of Wnt9b and GATA3 may increase diagnostic accuracy.

Assessment of HER2NEU Gene Amplication by Flourescence in Situ Hybridization in Breast Carcinoma with Equivocal Findings on Immunostaining

Objective: To determine the frequency of HER2/neu gene amplification by fluorescence in situ hybridization in Breast carcinoma patients with equivocal findings and to see its association with different clinicopathological features. Study Design: Cross-sectional study. Place and Duration of study: Medical Oncology Department, Jinnah Postgraduate Medical Center, Karachi, from Jan 2019 to Jan 2020. Methodology: Total 166 females of age 22-72 years with diagnosis of invasive breast carcinoma which scored 2+ for HER2/neu by immunostaining were included in the study. Data regarding socio-demographics and clinicopathological features were noted for all the cases. Each patient was evaluated for estrogen and progesterone receptor status by immunostaining and score of 0 to 2 was deemed as negative while score 3 to 8 was deemed as positive. Patients having equivocal HER2/neu on immunostaining was further tested for gene amplification by fluorescence in situ hybridization. Results: The mean age of study participants was 46.98±11.22 years (Range: 22-72 years). Out of 166(56.5%) showed gene amplification by fluorescence in situ hybridization. Statistically significant association was found between stage of tumor and HER2/neu (p=0.036). Conclusion: HER2/neu gene amplification by fluorescence in situ hybridization is detected in more than half of patients with equivocal findings on IHC and HER2/neu is strongly correlated with stage of tumor.