Association of IL-1ß gene polymorphisms rs1143627, rs1799916, and rs16944 with altered risk of triple-negative breast cancer.

PURPOSE: Breast cancer (BC) is the most recognized malignancy in females globally and is heterogeneous in its clinical manifestation, among which the triple-negative (TNBC) subtype is the most aggressive. This study examines the associations between IL-1ß polymorphisms and BC and TNBC susceptibility. METHODS: Genotyping ofIL-1ßrs1143627, rs1799916, and rs16944 polymorphisms was done in 488 women with BC (130 TNBC, 358 non-TNBC) and 476 cancer-free control women using real-time PCR genotyping. RESULTS: The minor allele and genotype frequencies of rs1799916, rs1143627, and rs16944 significantly differed among BC cases and controls and remained after correcting key covariates. On the other hand, minor allele and genotype frequencies of only rs16944 significantly differed between TNBC and non-TNBC cases. Spearman correlation analyses demonstrated that all three variants correlated positively with menopausal status and Her2 status but negatively with menarche, breastfeeding, and cancer type. In addition, rs1143627 and rs16944 correlated positively with HR and ER, while rs1799916 correlated positively with Ki67 status. The three variants correlated negatively with menarche, breastfeeding, and cancer type in non-TNBC cases but positively with histological grading in non-TNBC and Her2 in TNBC cases. A positive correlation was noted between rs1143627 and rs1799916 and age (<40 years) and between rs1799916 and rs16944 with menopausal status. We confirmed that GCG haplotype imparted BC susceptibility, while TCA and TTG haplotypes were protective of BC. Among TNBC cases, only GCG and TCA haplotypes remained protective of TNBC after adjustment. CONCLUSIONS: Our study highlights the association between IL-1ßgenetic polymorphisms and BC and TNBC susceptibility, suggesting these variants' diagnostic/prognostic capacity in BC patients.

Novel Association of IGF2BP2 Gene Variants With Altered Risk of Breast Cancer and as Potential Molecular Biomarker of Triple Negative Breast Cancer.

BACKGROUND: Several studies documented that insulin-like growth factor-2 mRNA-binding protein 2 (IGF2BP2) contributes to carcinogenesis, and 1 report documented the association of IGF2BP2 rs4402960 with increased risk of breast cancer (BC). This study investigated the association of rs4402960 and rs1470579 IGF2BP2 variants with BC and triple negative BC (TNBC). MATERIALS AND METHODS: This case-control study included 488 BC patients comprising 130 TNBC and 358 non-TNBC patients, and 476 cancer-free controls. Genomic DNA was obtained from peripheral venous blood, and genotyping was done by allelic exclusion method on real-time PCR. RESULTS: The rs440960, but not rs1470579, minor allele was significantly associated with BC, and significantly higher rs4402960 T/T genotype frequency was noted in BC patients than controls; the distribution of rs1470579 genotypes were comparable between BC patients and controls. In contrast, significantly lower rs1470579 minor allele frequency, and reduced rs1470579 A/C and C/C, and rs4402960 T/T genotype frequencies were seen in TNBC cases. Among TNBC cases, rs4402960 and rs1470579 correlated with menses pattern, histological type, breastfeeding, oral contraceptive use and hormonotherapy. Among non-TNBC patients, and rs1470579 correlated significantly with breast feeding, oral contraceptive use, hormonotherapy, and nodal status; rs4402960 also correlated with menses pattern. Two-locus (rs440960-rs1470579) haplotype analysis confirmed the positive association of TC, and negative association of GC and TA haplotypes with BC, while TC and GC haplotypes were negatively associated with TNBC. CONCLUSION: Whereas rs440960 was positively associated with BC, both rs4402960 and rs1470579 were negatively associated with TNBC, suggesting potential diagnostic/prognostic role in BC and its complications.

Unique ESR1 and ESR2 estrogen receptor gene variants associated with altered risk of triple-negative breast cancer: A case-control study.

BACKGROUND: We previously reported on the association between ESR1 and ESR2 gene variants and heightened risk of breast cancer (BC). Here we investigated the association of common ESR1 and ESR2 gene variants with triple negative BC (TNBC). METHODS: This retrospective case-control study involved 488 BC patients (130 TNBC, 358 non-TNBC patients). ESR1 (rs2234693, rs9340799, rs3020314, rs3798577) and ESR2 (rs928554, rs944459, rs4986938, rs1256049, rs1256030, rs1271572) genotyping was done by real-time PCR. RESULTS: While minor allele frequencies (MAF) of ESR1 variants were comparable between TNBC and non-TNBC subjects, significantly higher ESR2 rs1256049 MAF was seen in TNBC patients. Significantly higher frequency of ESR1 rs3798577 T/C and C/C genotypes were noted in TNBC cases, and significant differences were seen in ESR2 rs928554, rs1256049, and rs1271572 genotype distribution. Increased TNBC risk was associated with ESR1 rs3798577 T/C and C/C genotypes according to codominant and dominant models, while positive association of ESR2 rs928554 with TNBC was seen according to codominant and recessive models, and positive association of ESR2 rs1256049 with TNBC was seen according to codominant and dominant models. Positive interactions were noted between ESR2 rs1271572-ESR1 rs3020314, ESR2 rs1271572-ESR1 rs9340799, and ESR2 rs1271572-ESR1 rs2234693, ESR2 rs4986938-ESR1 rs2234693, and ESR2 rs928554-ESR1 rs9340799. Haplotype analysis confirmed the positive association of ESR1 CATT with TNBC, while ACGGCTC and ACGGTT ESR2 haplotypes were positively associated with TNBC. CONCLUSION: Results of this study confirmed the association of unique ESR1 and ESR2 genetic variants with altered risk of TNBC. This suggests possible diagnostic and prognostic role of these variants with TNBC independent of their association with BC.

Small bowel and lung histiocytic sarcoma revealed by acute peritonitis: A case report with review of literature.

INTRODUCTION AND IMPORTANCE: Histiocytic sarcoma (HS) is a rare malignant neoplasm showing morphologic and immunohistochemical features of histiocytes. It is characterized typically by extranodal presentation and a poor clinical course, particularly in cases with disseminated disease. CASE PRESENTATION: This report documents a case of bifocal and aggressive HS in small bowel and lung revealed by acute peritonitis in a 63-year-old man. CLINICAL DISCUSSION: Despite its rarity, we believe that the correct diagnosis of HS is crucial for clinical treatment and prognostic prediction. CONCLUSION: The collection of additional cases of HS are important to obtain further progress in prognosis and guide treatment decisions.

[Breast cancer and pregnancy: about 15 cases collected at the maternity center Monastir, Tunisia]. / Cancer du sein et grossesse: à propos de 15 cas colligés au centre de maternité de Monastir, Tunisie.

The purpose of this study was to describe the clinical, radiological, histological and therapeutic features of breast cancer diagnosed during pregnancy. We performed a review of all medical records of patients with breast cancer diagnosed during pregnancy in the Maternity and Neonatal Center, Monastir-Tunisia, over the period 2004-2019. We collected data on 15 cases. The average age of patients was 34 years; most pregnancy-associated breast cancers (PABCs) had been diagnosed during the postpartum period. Invasive ductal carcinoma was the major histological type (93% of cases), a rare case of secretory breast carcinoma had been observed. The main clinical stages were T2 and T4 breast cancer. Hormone receptor (HR)-negative breast cancers had been reported in 40% of cases, HER2-positive breast cancers in 26.6% of cases. Treatment included surgery, radiotherapy, chemotherapy and palliative chemotherapy. The median overall survival was 32.2 months. Pregnancy-associated breast cancer is a rare entity. Patients' prognosis is generally poor due to the young age at onset and a usually delayed diagnosis. Patients should participate in therapeutic decision making, which is difficult and multidisciplinary. Targeted therapy is the great hope for new therapies.

[Pain management in cancer patients in a Tunisian hospital]. / La gestion de la douleur chez les patients atteints du cancer dans un hôpital tunisien.

Pain is a common symptom in cancer patients. It is subjective and difficult to communicate. It continues to be outsourced and often overlooked despite the existence of multiple recommendations. The objective of this study is to describe pain management in cancer patients in a Tunisian hospital. This is a prospective study, conducted over one month at the maternity centre of Monastir by an intern in pharmacy using a questionnaire. Of 128 patients assessed, 50 were algic. Twenty-six percent of algic patients were not treated. The neuropathic component of pain was present in 30 % of cases but under treatment. Relief opioids were prescribed in 43 % of cases to relieve pain. Paracetamol was prescribed in 26 % of cases. Ten percent of patients use paracetamol self-medication. Sixteen percent of patients have tried non-pharmacological means, of which 62 % consume plants. To optimise the management of pain at our centre, the available analgesic sheets have been developed, validated by the medical staff and disseminated in the departments of carcinology and oncohematology. Therapeutic education sessions were also scheduled to warn patients about the risks of self-medication and misuse of medicinal plants. Pain management is complex. It requires respect for international recommendations, but especially for the efforts made by all stakeholders.

[Breast cancer treated with primary chemotherapy: predictive factors for radical treatment (retrospective study of 72 cases)]. / Cancer du sein traité par chimiothérapie première: facteurs prédictifs du traitement radical (étude rétrospective à propos de 72 cas).

Neoadjuvant chemotherapy has become the first-line treatment for locally advanced breast cancers. On the one hand, it allows for increasing options of breast conservation without an increased risk of recurrence, on the other hand it allows for locoregional control of patients with inoperable cancer. However, some clinical, radiological and histological factors are associated with an increased risk of mastectomy, such as microcalcifications, multifocality, SBR1 and 2 grade, cT3 and cT4 stages and overexpressed HER2. The purpose of this study was to determine the predictive factors for mastectomy after neoadjuvant chemotherapy (NAC), whether mastectomy was justified or not histologically and what were the predictors for unjustified mastectomy. We conducted a retrospective study of 72 patients with breast cancer treated by neoadjuvant chemotherapy in the Departments of Gynecology and Medical Oncology at the Fattouma Bourguiba Hospital in Monastir, Tunisia. The rate of conservative treatment was 18.1%; 63.15% for stage T2 tumors. Mastectomy was not justified by definitive histologic diagnosis in 26.3% of cases. In our study, unjustified mastectomy predictors were negative RH status and CT2 stage. This study led to reflection on our practice and its modifications. Conservative surgery should be considered as standard therapy and should be routinely suggested to all patients treated with neoadjuvant chemotherapy for breast cancer, including the cases with multifocality, large clinical tumor size, extensive microcalcifications, in order to significantly reduce the number of unjustified mastectomies.

[Cytogenic chorion sarcoma: clinical and radiological features]. / Le sarcome du chorion cytogène: aspects cliniques et radiologiques.

Endometrial stromal sarcomas are rare tumors affecting young women. Diagnosis is most often made after surgery. We here report the case of a 22-year-old girl admitted with pelvic pain associated with metrorrhagias. Imaging objectified heterogeneous uterine mass. The diagnosis of atypical fibroid was suspected. Definitive diagnosis was based on histological examination of the surgical specimen.

[Diagnostic and therapeutic features of invasive lobular carcinoma of the breast: a study of 30 cases]. / Le carcinome lobulaire infiltrant du sein: à propos de 30 cas.

Invasive lobular carcinoma (ILC) of the breast accounts for 5-15% of breast cancers. It is classified as the second most frequent histological type after non-specific invasive cancer (NSIC) and its prevalence has seen a marked increase. Clinical and radiological diagnosis is difficult. Usually, this cancer develops bilaterally and more slowly than non-specific invasive cancer, with best prognostic factors. The purpose of our study was to describe in detail the clinical, radiological, therapeutic and prognostic features of invasive lobular carcinoma. We conducted a retrospective descriptive study of 30 cases with ILC of the breast whose data were collected at the Center of Maternity and Neonatology, Monastir over a period of 10 years. The prevalence of ILC was 5.2%. The average age of patients was 53.43 years. Ten percent of patients had a personal history of benign mastopathies, 6.66% had a personal history of breast cancer and 3.33% had a family history of breast cancer. Late-stage diagnosis was made in 18 cases. Bifocal mass was found in 5 patients, multifocal mass in 4 patients and bilateral mass in 3 patients. Only one patient had liver metastasis at the time of diagnosis. Radical mastectomy (Patey) was immediately performed in 63.33% of patients. Anatomo-pathological examination showed multifocal lesions in 44.80% of cases. Lymph node dissection was satisfactory in 21 patients; 28 patients (93.33%) underwent radiotherapy and adjuvant hormonal therapy. Five-year overall survival was 77.3%.

Common matrix metalloproteinase-2 gene variants and altered susceptibility to breast cancer and associated features in Tunisian women.

A role for matrix metalloproteinase polymorphisms in breast cancer development and progression was proposed, but with inconclusive results. We assessed the relation of matrix metalloproteinase-2 variants with breast cancer and related phenotypes in Tunisians. This case-control retrospective study involved 430 women with breast cancer and 498 healthy controls. Genotyping of matrix metalloproteinase-2 rs243866, rs243865, rs243864, and rs2285053 was analyzed by allelic exclusion. The minor allele frequency of rs2285053 was significantly lower in women with breast cancer cases as compared to control women; minor allele frequencies of the remaining single-nucleotide polymorphisms were similar between cases and control women. The distribution of rs243865 and rs2285053 genotypes was significantly different between breast cancer patients and control subjects. This persisted when key covariates were controlled for. None of the matrix metalloproteinase-2 variants were associated with estrogen receptor positivity, progesterone receptor positivity, or with double estrogen receptor-progesterone receptor positivity in breast cancer patients. Matrix metalloproteinase-2 rs243866, rs243865, and rs243864 were positively associated with menstrual irregularity and histological type, while rs243866 and rs2285053 were negatively associated with menarche and nodal status. In addition, rs2285053 was negatively associated with triple negativity, tumor size, distance metastasis, molecular type, and chemotherapy. Haploview analysis revealed high linkage disequilibrium between matrix metalloproteinase-2 variants. Four-locus Haploview analysis identified haplotypes GCTT and GTTC to be negatively associated with breast cancer, which remained statistically after controlling for key covariates. Matrix metalloproteinase-2 alleles and genotypes, along with four-locus haplotypes, are related to reduced susceptibility to breast cancer in Tunisian women, suggesting a protective effect.

[Genital metastases from breast cancer: study of 3 cases and literature review]. / Métastases génitales du cancer du sein: étude de 3 cas et revue de la littérature.

Breast cancer is the most common cancer among women. Prognosis depends, in large part, on the presence of metastases. Liver, skeleton and lungs are the most frequent metastatic sites, whereas genital metastases are more rare and less known. The detection of an ovarian mass in a woman with a history of breast cancer raises the question of its primary or secondary origin. The frequency of ovarian metastases reported in the literature is approximately 20-30%. However, when an ovarian mass is detected in a woman with breast cancer, primary ovarian tumor is diagnosed three times more often than a metastasis. Cervical, uterine or corporeal metastases are even more rare. They are often diagnosed late, due to their clinical latency; transvaginal ultrasound coupled with Color Doppler and Pap smear must be performed as first-line examinations knowing that their screening performance in patients with ovarian masses is deemed low. An increase in CA 15-3 and CEA tumor markers must lead clinicians to investigate for metastases, but it doesn't provide diagnostic orientation toward a specific metastatic site. Finally, only anatomo-athological examination allows certain diagnosis. We here report 3 cases of genital metastases from primary breast cancer (two patients with ovarian metastases and one patient with cervico-uterine metastasis) in order to highlight the role of accurate and regular genital examination in the monitoring of patients with breast cancer and to discuss the predictive factors for their occurrence.

Adenosquamous carcinoma of the right colon: A case report and review of the literature.

INTRODUCTION: Adenosquamous carcinoma is a rare colorectal tumor with both an adenocarcinoma and a squamous cell carcinoma component. To the best of our knowledge, only few cases have been reported in the literature. CASE PRESENTATION: We report a case of a 46-year-old woman, hospitalized for large bowel obstruction syndrome. Computed tomography scan showed an irregular mass of the right colic angle, responsible for an occlusive syndrome with distension of the right colon, the appendix and the terminal ileum. The patient underwent right hemicolectomy with D2 lymphadenectomy. Histopathological examination revealed mixed adenocarcinoma and squamous carcinoma. Adjuvant chemotherapy was prescribed for the patient. DISCUSSION: Adenosquamous carcinoma is a rare colorectal neoplasm revealed by non-specific complaints. Its clinicopathology is not yet understood. Preoperative diagnosis is often difficult. Surgical resection remains the mainstay of treatment. CONCLUSION: Adenosquamous carcinoma is a malignant tumor with poorer prognosis than adenocacinomas.

Factors Predictive of Quality of Life among Breast Cancer Patients

Background: Due to progress in medical care, the number of survivors from cancer has increased significantly during recent years and this raises the question of the quality of life (QoL), especially of the many women treated for a breast cancer. This paper focuses on correlations of QoL with anxiety and depression on the one hand and with socio demographic, anatomo-clinical and therapeutic parameters on the other. Methods: In this cross-sectional study, seventy patients were enrolled and filled in two auto-questionnaires, both in validated Arabic versions: The SF-36 for assessment of QoL and the Hospital Anxiety and Depression Scale (HAD-S) for evaluation of anxiety and depression. The statistical approaches used to determine predictive factors were bivariate correlations to determine relationships between quantitative variables, and T-tests and one-way Anova to analyze links between qualitative and quantitative variables. Results: The QoL of patients was altered with an SF-36 mean total score of 54.0 ± 22.7, and the alteration affects the different aspects. The mean scores for anxiety and depression in patients were 6.91 ± 4.72 and 6.24 ± 3.88, respectively. The results of this study suggested an association between the QoL and chemotherapy (p= 0.014) and its adverse effects (p=0.01), as well as anxiety (p= 0.0001) and depressive symptoms (p= 0.0001). Socio-demographic factors, the stage of the cancer, and surgery, radiotherapy or hormone therapy did not appear to have significant effects. Conclusion: The management of breast cancer patients needs a collaborative approach between oncologists, gynecologists, psychologist and psychiatrists.

Breast diseases in women over the age of 65 in Monastir, Tunisia.

As life expectancy is on the rise, it is predicted that a growing number of people will live beyond the age of 65 and therefore a higher number of elderly women will have breast diseases requiring significant health care and services. This study is aimed at investigating the characteristics, the treatment and outcomes of women older than 65 years old treated for breast diseases at our institution. This was a retrospective study covering the period from January 2003 to December 2011. It involved 92 patients aged over 65 and treated for breast disease in the Maternity Center of Monastir, Tunisia. The data included characteristics of patients and tumors, treatment and outcomes that were obtained through data extraction sheets. We reported a study of 92 women over the age of 65 of whom 77 women had malignant breast disease (83.6%) and 15 benign breast diseases (16.4%). Breast cancer was discovered at a mean age of 72.5 ± 6.6 years. Distant metastases were found in 5.3% of cases and infiltrative ductal carcinoma was detected in 85.7% of patients. Hormonal receptors were positive for estrogens in 64.7% of cases. Surgical treatment was performed in 73 patients and adjuvant treatment was prescribed for 67 women (86%). The complication rate was 16.6% among the 73 patients who underwent surgery. Benign breast diseases represented 16.3% of the mammary pathologies. Abscesses and fibrocystic mastopathy were the most frequent histological diagnoses. Despite great interest in geriatric gynecological pathology worldwide, many questions related to how optimally treat this patient population remain unanswered. In this study, a surgical treatment was performed in 94.8% of breast cancer patients and the complication rate was 16.6%.