Metaplastic Carcinoma of the Breast: Case Series of a Single Institute and Review of the Literature.

Metaplastic carcinoma of the breast (MpBC) is a very rare and aggressive type of breast cancer. Data focusing on MpBC are limited. The aim of this study was to describe the clinicopathological features of MpBC and evaluate the prognosis of patients with MpBC. Eligible articles about MpBC were identified by searching CASES SERIES gov and the MEDLINE bibliographic database for the period of 1 January 2010 to 1 June 2021 with the keywords metaplastic breast cancer, mammary gland cancer, neoplasm, tumor, and metaplastic carcinoma. In this study, we also report 46 cases of MpBC stemming from our hospital. Survival rates, clinical behavior, and pathological characteristics were analyzed. Data from 205 patients were included for analysis. The mean age at diagnosis was 55 (14.7) years. The TNM stage at diagnosis was mostly stage II (58.5%) and most tumors were triple negative. The median overall survival was 66 (12-118) months, and the median disease-free survival was 56.8 (11-102) months. Multivariate Cox regression analysis revealed that surgical treatment was associated with decreased risk of death (hazard ratio 0.11, 95% confidence interval 0.02-0.54, p = 0.01) while advanced TNM stage was associated with increased risk of death (hazard ratio 1.5, 95% confidence interval 1.04-2.28, p = 0.03). Our results revealed that surgical treatment and TNM stage were the only independent risk factors related to patients' overall survival.

Germline mutations in a clinic-based series of pregnancy associated breast cancer patients.

BACKGROUND: Pregnancy-associated breast cancer (PABC) defined as breast cancer diagnosed during gestation, lactation or within 1 year after delivery, represents a truly challenging situation with significantly increasing incidence rate. The genomic background of PABC has only recently been addressed while the underlying mechanisms of the disease still remain unknown. This analysis aims to further elucidate the frequency of PABC cases attributable to genetic predisposition and identify specific cancer susceptibility genes characterizing PABC. METHODS: A comprehensive 94-cancer gene panel was implemented in a cohort of 20 PABC patients treated in our clinic and descriptive correlation was performed among the results and the patients' clinicopathological data. RESULTS: In the present study, 35% of PABC patients tested carried pathogenic mutations in two known cancer predisposition genes (BRCA1 and CHEK2). In total, 30% of the patients carried BRCA1 pathogenic variants. An additional 5% carried pathogenic variants in the CHEK2 gene. Variants of unknown/uncertain significance (VUS) in breast cancer susceptibility genes BRCA2, CHEK2 and BRIP1 were also identified in three different PABC patients (15%). Not all patients carrying germline mutations reported known family history of cancer. CONCLUSIONS: Genetic testing should be considered as an option for PABC patients since the disease is highly associated with genetic susceptibility among other predisposing factors. Germline mutation identification may further modify PABC management approach and improve the prognostic outcome.

Evaluation of MET T1010I and MET rs40239 single-nucleotide polymorphisms in triple-negative breast cancer: a case-control study.

Aim: The purpose of this study is to evaluate the role of MET T1010I and MET rs40239 as potential risk factor and/or prognostic markers in patients with triple-negative breast cancer (TNBC). Methods: 114 samples of DNA from paraffin-embedded breast normal tissues of patients with TNBC and 124 samples of healthy controls were collected and analyzed for MET T1010I and MET rs40239 polymorphisms. Results: MET T1010I CT genotype was associated with increased risk of TNBC in both univariate and multivariate analysis. The status of rs40239 was not associated with a higher risk for TNBC at either the univariate or the multivariate analysis. None of the examined polymorphisms was associated with overall survival at the univariate or multivariate Cox regression analysis (adjusted HR=1.35, 95% CI: 0.31-5.97 for MET T1010I CT/TT vs CC; adjusted HR=1.78, 95% CI: 0.73-4.35 for rs40239 AG/GG vs AA). Conclusion: Our case-control study suggests that MET T1010I seems to be a risk factor for TNBC in the Caucasian Greek population, in contrast with MET rs40239, where no correlation was found.

Prognostic significance of miR-34 rs4938723 T > C polymorphism in triple negative breast cancer patients.

OBJECTIVES: The aim of this was the assessment of the prognostic role of the rs4938723 C > T polymorphism of the miR-34 in triple negative breast cancer patients. METHODS: Therefore formalin fixed paraffin embedded tissue samples from 114 triple negative breast cancer patients and blood samples from 124 healthy donors were genotyped and subsequently extensive statistical analysis was performed in order to investigate the clinical value of this polymorphism in triple negative breast cancer. RESULTS: Our statistical analysis disclosed that the majority of patients harboring ductal breast carcinoma (69.4%) have the TC or CC genotypes (P = .020). Moreover the survival of the patients was significantly correlated with the occurrence of the TC or CC alleles (P < .001). Regarding the correlation of miR-34 polymorphisms with patients' survival we found that women with TC or CC single nucleotide polymorphisms were characterized by shorter disease free survival intervals (P = .05). Furthermore triple negative breast cancer patients with TC/CC genotype exhibited shorter overall survival intervals as disclosed by Kaplan Meier analysis (P < .001) and Cox regression analysis (HR = 3.2, %95 CI = 2.0-5.5, P = .008). Stratified Kaplan-Meier analysis showed that the women harboring the TC or CC genotype along with the ductal histology had significantly shorter survival (P < .001). This result was also confirmed by Univariate Cox regression analysis, which showed that women ductal breast cancer and TC or CC genotype are of worse prognosis (HR = 2.35, %95 CI = 2.1-4.65, P = .003). CONCLUSIONS: In conclusion, we found that the TC and CC alleles are associated with unfavorable prognosis in triple negative breast cancer patients.

A salpingeal carcinoma revealed after prophylactic salpingoophorectomy in an asymptomatic BRCA1 carrier with breast malignancy.

INTRODUCTION: BRCA1 inherited mutation carriers face a lifetime risk of 72% to develop breast cancer and a percentage of 44% risk for ovarian cancer. PRESENTATION OF CASE: We present a case of a 35-year old Caucasian woman who, after the excision of a possible malignant finding on the right breast, was diagnosed with ductal breast carcinoma. The patient treatment included first chemotherapy and radiotherapy and then prophylactic bilateral mastectomy with plastic reconstructive surgery. At the age of 37, she underwent prophylactic laparoscopic bilateral salpingoophorectomy. The histological diagnosis of the surgical specimens was suggestive of a unilateral invasive high grade salpingeal cancer and the patient underwent an abdominal hysterectomy by laparotomy, omentectomy and bilateral pelvic lymphadenectomy. DISCUSSION: Women with known BRCA mutations are strongly recommended to consider a risk reducing prophylactic salpingoophorectomy (RRSO) from their early 40 s to gain maximum benefit in cancer risk reduction from the procedure. The prevalence of occult carcinomas in BRCA1 carriers is almost 1, 5% if the prophylactic bilateral salpingoophorectomy is performed before the age of 40, while this percentage may be increased to 3, 8% for women who undergo the surgery between 40 and 49 years. CONCLUSION: We present an interesting case, of an accidentally revealed salpingeal carcinoma via RRSO in an asymptomatic young premenopausal woman.

A unique case of total metastatic lobular breast carcinoma, originating from diffused microcalcifications, presented in a postmenopausal woman, without clinical manifestations.

INTRODUCTION: Lobular breast carcinoma includes lobular carcinoma in situ (LCIS) and invasive lobular carcinoma (ILC). The association of LCIS with total metastatic lobular breast cancer is very rare. PRESENTATION OF CASE: We present a case of a totally metastatic lobular breast cancer in an asymptomatic 64-year-old postmenopausal woman, with no suspicious microcalcifications in mammography. A total hysterectomy with bilateral salpingo-oophorectomy, pelvic lymphadenectomy, infracolic omentectomy and appendectomy was performed along with a quadrantectomy of the upper outer quadrant of left breast, and systematic isolateral lymphadenectomy of the left axilla. DISCUSSION: LCIS is usually undetectable because it isn't associated with clinical abnormalities in clinical examination and is presented in mammography as microcalcifications or focal asymmetric densities. ILC histopathologic features are responsible for the high false-negative rates on mammography, leading to moderate detection sensitivity. CONCLUSION: Our case is a very rare condition. No 'similar' case have been described in the literature so far.

Evaluation of pre-mir-34a rs72631823 single nucleotide polymorphism in triple negative breast cancer: A case-control study.

AIM: The purpose of this study is to evaluate the role of pre-miR34a rs72631823 as potential risk factor and/or prognostic marker in patients with triple negative breast cancer. METHODS: 114 samples of DNA from paraffin embedded breast normal tissues of patients with triple negative breast cancer and 124 samples of healthy controls were collected and analyzed for pre-miR34a rs72631823 polymorphism. RESULTS: Pre-miR34a rs72631823 A allele was associated with increased TNBC risk both in univariate and multivariate analysis. The number of pre-miR34a rs72631823 AA subjects was very small and the association did not reach significance (p = 0.176, Fisher's exact test). The examined polymorphism was not associated with overall survival at the univariate or multivariate Cox regression analysis (adjusted HR = 1.60, 95%CI: 0.64-3.96 for miR34 rs72631823 GA/AA vs. GG). CONCLUSION: Our case-control study suggests that pre-miR34a rs72631823 A allele is associated with increased triple negative breast cancer risk.

Mesenteric cysts and mesenteric venous thrombosis leading to intestinal necrosis in pregnancy managed with laparotomy: a case report and review of the literature.

BACKGROUND: Mesenteric cyst is a rare clinical entity especially in pregnancy; therefore, few cases have been reported in the literature. The standard method of their treatment is surgical excision either with laparotomy or laparoscopy. In addition, mesenteric vein thrombosis is a rare and life-threatening condition in pregnancy and needs immediate treatment because it can lead to intestinal necrotic ischemia. This is the first report of the coexistence of mesenteric cysts and mesenteric vein thrombosis during gestation. CASE PRESENTATION: A 27-year-old Greek woman, gravida 2 para 1, presented at 10 weeks' gestation to the Emergency Unit of our hospital complaining of diffuse abdominal pain which deteriorated the last 3 days, which was localized in her right iliac fossa, along with vomiting. She had undergone open laparotomy and right salpingo-oophorectomy at the age of 23 due to an ovarian cyst. Besides this, her personal and family medical history was unremarkable. She had never received oral contraceptives or any hormone therapy. On arrival, a clinical examination revealed tenderness on palpation of her right iliac fossa, without rebound tenderness or muscle guarding. Within 10 hours of hospitalization, her symptoms deteriorated further with rebound tenderness during the examination, tachycardia, and a drop of 12 units in her hematocrit value. An emergency laparotomy was performed. Two mesenteric cysts and a 60 cm necrotic part of her intestine were revealed intraoperatively. In the postoperative period, she complained of acute abdominal pain, tachycardia, and dyspnea. Computed tomography imaging revealed mesenteric vein thrombosis and pulmonary thromboembolism. She was treated with low molecular weight heparin and she was discharged on the 11th postoperative day. CONCLUSIONS: To the best of our knowledge, this is the first report in the literature of a simultaneous mesenteric cyst and mesenteric vein thrombosis in pregnancy. It is known that pregnancy is a state of hypercoagulation and clinicians should bear in mind this rare clinical condition in their diagnostic algorithm for acute abdominal pain.

Giant Juvenile Fibroadenoma in a 12-Year-Old Girl: Ultrasonography, Elastography, Clinical, and Pathology Findings of This Rare Type of Fibroadenoma.

A 12-year-old girl was referred to our radiology department with a rapidly enlarging mass in the right breast. Fine-needle aspiration cytology was suggestive of fibroadenoma. Total excision of the mass was done, and diagnosis was confirmed by histopathology.

A prepubertal giant juvenile fibroadenoma in a 12-year-old girl: Case report and brief literature review.

INTRODUCTION: Giant juvenile fibroadenomas represent only the 0.5% of all fibroadenomas, constituting a rare condition in adolescence. In prepuberty, the presence of this condition is extremely rare. PRESENTATION OF CASE: We describe a rare case of a 12- year-old Caucasian girl who presented to our Hospital complaining of a palpable mass with rapid enlargement in her right breast that she had first noticed 3 months ago. Her menarche hadn't occurred yet. DISCUSSION: Physical examination showed a giant mass of 15 × 13 cm in the right breast. The patient was further evaluated via ultrasonography showing a sole large lesion of 13 × 12 cm in the right breast. A surgical procedure under general anesthesia was performed. Histopathological findings after the surgical excision were suggestive of giant juvenile fibroadenoma. The patient has a normal breast development over a period of 9 month follow up. CONCLUSION: Giant juvenile fibroadenomas should be included in differential diagnosis of a breast mass in prepubertal girls despite the fact that they are very rare in prepuberty, tend to appear later during adolescence and their prevalence is lower in Caucasians. The remarkable size and the rapid growth of the lesion should not be ruled out in the diagnostic process of an adolescent breast.

Breast Elastography: How We Do It.

In recent years, the use of elastography in addition to sonography has become a routine clinical tool for the characterization of breast masses. Studies have investigated the improvement of specificity in differentiating benign from malignant breast masses. Therefore, additional use of elastography could help reduce the number of unnecessary biopsies in benign breast lesions especially in category IV lesions of the ultrasound breast imaging reporting data system. Ultrasound elastography is a cheap, readily available, useful, quick, noninvasive method, but it needs specific training as well as acknowledging technical and pathological factors, which may influence it. Both strain and acoustic radiation force impulse (ARFI) methods have been evaluated in breast lesions. Whereas strain elastography results in qualitative imaging of tissue stiffness due to induced compression, ARFI elastography displays quantitative and qualitative information of tissue displacement. A standardized imaging protocol is essential for an adequate and effective examination, also helping reduce the dependence from operators. Furthermore, knowledge of pitfalls that can be encountered when ultrasound elastography is performed may help avoid erroneous image interpretation. In this article, we describe a practical examination protocol for both strain and ARFI elastography and demonstrate the elastographic imaging findings in benign and malignant breast lesions. Short video clips displaying the technique are included as supplementary material.

Expression of ARs in triple negative breast cancer tumors: a potential prognostic factor?

BACKGROUND/AIM: In light of the controversial published literature, this study aims to examine the potential prognostic role of AR immunohistochemical expression in triple negative breast cancer (TNBC). PATIENTS AND METHODS: Ninety patients with TNBC were included in this study; the associations between AR expression (Allred score), clinicopathological variables (stage, grade, histological subtype, tumor size, nodal status, age at diagnosis, Ki67 expression, and p53 expression), and overall survival were evaluated. RESULTS: AR expression was not associated with stage, grade, histological subtype, tumor size, nodal status, age at diagnosis, Ki67 expression, and p53 expression. AR immunopositivity was not associated with overall survival either at the univariate or at the multivariate Cox regression analysis (multivariate hazard ratio =0.66, 95% confidence interval: 0.26-1.70, P=0.393). CONCLUSION: AR expression does not seem to play a prognostic role in TNBC.

Primary Non-Hodgkin Lymphoma of the Breast: Ultrasonography, Elastography, Digital Mammography, Contrast-Enhanced Digital Mammography, and Pathology Findings.

Lymphomas constitute approximately 0.15% of malignant mammary neoplasms. Less than 0.5% of all malignant lymphomas involve the breast primarily. Primary non-Hodgkin breast lymphoma is usually right sided. The combined therapy approach, with chemotherapy and radiotherapy, is the most successful treatment. Mastectomy offers no benefit in the treatment of primary non-Hodgkin breast lymphoma. To the author's knowledge, this is the first published case of primary non-Hodgkin breast lymphoma reported with conventional ultrasonography, elastography (both freehand and acoustic radiation force impulse imaging), digital mammography, contrast-enhanced digital mammography, and pathology findings. A 45-year-old woman presented with a lump in the right breast for 2 months. There was no evidence of systemic lymphoma or leukemia when the breast lesion was detected. Imaging findings were negative for lymphoma. Ipsilateral lymph nodes were not palpable. The mass was resected, and histopathology findings were diagnostic of non-Hodgkin lymphoma. Immunohistochemistry was confirmatory of non-Hodgkin lymphoma, diffuse large cell type of B-cell lineage. Although primary and secondary lymphomas of the breast are rare entities, they should be considered in the differential diagnosis of breast malignancies.