Subject(s)
Appendicitis , Appendix , Laparoscopy , Appendectomy , Appendicitis/pathology , Appendicitis/surgery , Appendix/pathology , Appendix/surgery , HumansABSTRACT
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.
Subject(s)
Biomarkers, Tumor/genetics , Breast Neoplasms/genetics , Genetic Predisposition to Disease , Pregnancy Complications, Neoplastic/genetics , Adult , BRCA1 Protein/genetics , Breast Neoplasms/diagnosis , Breast Neoplasms/epidemiology , Checkpoint Kinase 2/genetics , Cohort Studies , DNA Mutational Analysis , Fanconi Anemia Complementation Group Proteins/genetics , Female , Genetic Testing/statistics & numerical data , Germ-Line Mutation , Humans , Middle Aged , Pregnancy , Pregnancy Complications, Neoplastic/diagnosis , Pregnancy Complications, Neoplastic/epidemiology , Prevalence , RNA Helicases/geneticsABSTRACT
Dual-energy contrast-enhanced spectral mammography (CESM) represents a relatively new diagnostic tool adjunct to mammography. The aim of this study was to strengthen the breast imaging-reporting and data system (BIRADS) classification score in order to improve early breast cancer diagnosis. For this reason, we propose a sum score, termed malignancy potential score (MPS), incorporating the standard BIRADS score and our proposed CESM score. From September 2014 to September 2015, 216 females (age range, 26-85 years; mean age 54.6 years) underwent CESM evaluation of mammographic findings that were primarily assessed as BIRADS 2-5. 10 of these patients had bilateral findings; a total of 226 lesions were examined. High-energy image evaluation was based on the intensity of contrast enhancement of the lesion compared with background enhancement, categorized as Type -1, 0, 1 or 2 enhancement. Histopathology reports were compared with imaging assessment. 98 of 226 lesions were malignant and 128 of 226 lesions were benign. The area under the curve was 0.843, 0.888 and 0.917 for mammographic BIRADS score, CESM score and MPS, respectively, with p-value < 0.05. The sensitivity, specificity and accuracy rates were 91.83, 80.47 and 85.40%, respectively, when a best MPS cut-off point of 4 was used. The malignancy potential score (MPS) has higher diagnostic performance than digital mammography or CESM alone. MPS empowers the credibility of the digital mammography BIRADS score and our proposed type of enhancement in dual-energy CESM and is a diagnostic tool that increases the accuracy rate in early breast cancer diagnosis.
