Search

Breast cancer surgery is the primary treatment for early-stage breast cancer. However, inflammatory breast cancer (IBC), with its specific presentation characterized by skin invasion, is unfit for primary surgery. According to the different guidelines, the management of IBC is trimodal with the coordination of oncologists, surgeons, and radiation therapists. Advances in breast cancer imaging and the development of more targeted therapies make new challenges for this aggressive cancer. This chapter aims to provide an update on the role of surgery in IBC. Radical surgery is still considered the standard surgical treatment in IBC. Some authors suggest a conservative surgery in patients with a clinical response to chemotherapy without affecting survival. For lymph node surgery, the sentinel lymph node biopsy (SLNB) is not feasible in IBC patients, according to the existing studies. However, prospective studies on SLNB are needed to verify its reliability after chemotherapy for a specific group of patients. In the metastatic IBC, surgery can be considered if there is a good response after chemotherapy or for uncontrolled symptoms. Existing studies showed that surgery may impact survival for these patients. Prospective studies are mandatory to optimize IBC management, considering factors such as tumor's molecular profile., (Copyright © 2024. Published by Elsevier Inc.)

Background: Breast cancer is the world's most common cancer among women. It is becoming an increasingly urgent problem in low- and middle-income countries (LMICs) where a large fraction of women is diagnosed with advanced-stage disease and have no access to treatment or basic palliative care. About 5-10% of all breast cancers can be attributed to hereditary genetic components and up to 25% of familial cases are due to mutations in BRCA1 /2 genes. Since their discovery in 1994 and 1995, as few as 18 mutations have been identified in BRCA genes in the Tunisian population. The aim of this study is to identify additional BRCA mutations, to estimate their contribution to the hereditary breast and ovarian cancers in Tunisia and to investigate the clinicopathological signatures associated with BRCA mutations., Methods: A total of 354 patients diagnosed with breast and ovarian cancers, including 5 male breast cancer cases, have been investigated for BRCA1/2 mutations using traditional and/or next generation sequencing technologies. Clinicopathological signatures associated with BRCA mutations have also been investigated., Results: In the current study, 16 distinct mutations were detected: 10 in BRCA1 and 6 in BRCA2 , of which 11 are described for the first time in Tunisia including 3 variations that have not been reported previously in public databases namely BRCA1 _c.915T>A; BRCA2 _c.-227-?_7805+? and BRCA2 _c.249delG. Early age at onset, family history of ovarian cancer and high tumor grade were significantly associated with BRCA status. BRCA1 carriers were more likely to be triple negative breast cancer compared to BRCA2 carriers. A relatively high frequency of contralateral breast cancer and ovarian cancer occurrence was observed among BRCA carriers and was more frequent in patients carrying BRCA1 mutations., Conclusion: Our study provides new insights into breast and ovarian cancer genetic landscape in the under-represented North African populations. The prevalence assessment of novel and recurrent BRCA1/2 pathogenic mutations will enhance the use of personalized treatment and precise screening strategies by both affected and unaffected North African cancer cases., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Hamdi, Mighri, Boujemaa, Mejri, Ben Nasr, Ben Rekaya, Messaoud, Bouaziz, Berrazega, Rachdi, Jaidane, Daoud, Zribi, Ayari, El Benna, Labidi, Ben Hassouna, Haddaoui, Rahal, Benna, Mrad, Ben Ahmed, Boussen, Boubaker and Abdelhak.)

BRCA1 and BRCA2 are the most commonly mutated breast cancer susceptibility genes that convey a high risk of breast and ovarian cancer. Most BRCA1 or BRCA2 mutation carriers have inherited a single heterozygous mutation. In recent years, very rare cases with biallelic or trans double heterozygous mutations on BRCA1 and or BRCA2 have been identified and seem to be associated with distinctive phenotypes. Given that this genotype-phenotype correlation in cancer predisposing hereditary conditions is of relevance for oncological prevention and genetic testing, it is important to investigate these rare BRCA genotypes for better clinical management of BRCA mutation carriers. Here we present the first report on Cis double heterozygosity ( Cis DH) on BRCA2 gene identified using Whole exome sequencing (WES) in a Tunisian family with two BRCA2 mutations namely: c.632-1G>A and c.1310_1313DelAAGA that are both reported as pathogenic in ClinVar database. Subsequent analysis in 300 high-risk Tunisian breast cancer families detected this Cis double heterozygous genotype in 8 additional individuals belonging to 5 families from the same geographic origin suggesting a founder effect. Moreover, the observed Cis DH seems to be associated with an early age of onset (mean age = 35.33 years) and severe phenotype of the disease with high breast cancer grade and multiple cancer cases in the family. The identification of unusual BRCA genotypes in this Tunisian cohort highlights the importance of performing genetic studies in under-investigated populations. This will also potentially help avoiding erroneous classifications of genetic variants in African population and therefore avoiding clinical misdiagnosis of BRCA related cancers. Our findings will also have an impact on the genetic testing and the clinical management of North African breast cancer patients as well as patients from different other ethnic groups in regard to several emerging target therapies such as PARP inhibitors., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Hamdi, Boujemaa, Mighri, Mejri, Jaidane, Ben Nasr, Bouaziz, Hassouna, Zribi, Berrazaga, Rachdi, Daoud, El Benna, Labidi, Haddaoui, Rahal, Benna, Boussen, Abdelhak and Boubaker.)

Hereditary breast cancer accounts for 5-10% of all breast cancer cases. So far, known genetic risk factors account for only 50% of the breast cancer genetic component and almost a quarter of hereditary cases are carriers of pathogenic mutations in BRCA1/2 genes. Hence, the genetic basis for a significant fraction of familial cases remains unsolved. This missing heritability may be explained in part by Copy Number Variations (CNVs). We herein aimed to evaluate the contribution of CNVs to hereditary breast cancer in Tunisia. Whole exome sequencing was performed for 9 BRCA negative cases with a strong family history of breast cancer and 10 matched controls. CNVs were called using the ExomeDepth R-package and investigated by pathway analysis and web-based bioinformatic tools. Overall, 483 CNVs have been identified in breast cancer patients. Rare CNVs affecting cancer genes were detected, of special interest were those disrupting APC2, POU5F1, DOCK8, KANSL1, TMTC3 and the mismatch repair gene PMS2. In addition, common CNVs known to be associated with breast cancer risk have also been identified including CNVs on APOBECA/B, UGT2B17 and GSTT1 genes. Whereas those disrupting SULT1A1 and UGT2B15 seem to correlate with good clinical response to tamoxifen. Our study revealed new insights regarding CNVs and breast cancer risk in the Tunisian population. These findings suggest that rare and common CNVs may contribute to disease susceptibility. Those affecting mismatch repair genes are of interest and require additional attention since it may help to select candidates for immunotherapy leading to better outcomes., Competing Interests: The authors have declared that no competing interests exist.

Background: Sleep disorders are a common complaint in breast cancer patients. These women suffer from fear of death, fear of suffering, treatment complications as well as social devaluation; all leading to feelings of hopelessness. The objectives of this work were to evaluate the quality of sleep in a group of breast cancer women, and to analyze the association between sleep quality, depression, and hopelessness., Methods: A cross-sectional study was carried out over a period of 3 months, including 50 women suffering from breast cancer and having received a surgical treatment of their disease. Sleep quality was assessed using the Pittsburgh Sleep Quality Index (PSQI). The evaluation of depression was performed using the Beck Depression Inventory (BDI-II). Hopelessness was measured with the Beck hopelessness scale (BHS). All participants were screened using the Arab-language version of these scales., Results: Of 66% of breast cancer patients were considered as poor sleepers (PSQI scores >5), 30% of our sample had a moderate to severe depression, and 24% had a high level of hopelessness. PQSI scores were negatively correlated with depression (P < 0.001) and hopelessness scores (P < 0.001). Multivariate analysis retained as main predictors of the sleep quality habitation and hopelessness scores. After controlling for demographic (age) and social (habitation) variables, hopelessness significantly contributed to sleep quality., Conclusion: Hopelessness was positively associated to sleep disorders in women suffering from breast cancer. Hopelessness requires an appropriate management in order to prevent depression and suicide and to improve the quality of life of these patients., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Pineal metastases of solid tumors are rare. Primary cancer is generally absent at the diagnosis, for which a cerebral MRI is important. We report a case of pineal metastasis occurring in a 76-year-old woman treated for breast carcinoma in our department., (Copyright © 2014. Published by Elsevier SAS.)

The latissimus dorsi (LD) flap is one of the most common flaps used in plastic surgery based on its dominant thoracodorsal pedicle as well as free tissue transfer. The "distally based" or "reverse" fashion design has been used to repair myelomeningoceles, congenital diaphragmatic agenesis, or thoracolumbar defects. We present a case of a large lumbar defect after cancer resection covered by a combined tegument solution starring the "reverse" LD flap in its muscular version with a cutaneous gluteal flap. This flap is a safe and reliable way to cover large distal lumbar defect.