mutations. 5 gene-fusions were identified, namely EIF3E -RSPO2 (n¼2), FNDC3B -PIK3CA, MON2-RAP1GDS1, MYBL1-NFIB. IHC detected frequent expressions of EGFR, phosphorylated mTOR and PD-L1 in 33 (66.0%), 29 (58.0%) and 14 patients (28.0%), respectively. In 30 cases (60.0% of all patients) a molecular driven targeted therapy approach could be recommended. In over two-thirds of all recommendations (n¼22/ 30, 73.3%), the molecular-driven treatment approach was derived from the molecular characteristics determined by immunohistochemistry. The three most recommended treatments included cetuximab (n¼10), pembrolizumab (n¼6), and crizotinib (n¼3). Eventually, eight patients (16%) received the recommended therapy and underwent radiological assessment. Four patients (8%) experienced progressive disease and the other four patients achieved stable disease. Therapy recommendations were significantly more often issued for men (p¼0.043) than for women due to gender specific differences in the molecular profile.Conclusions: This analysis demonstrated that precision medicine was feasible and provided molecular-driven therapy recommendations in over half of the patients. Further it underscored the relevance of immunohistochemistry in precision medicine. Our analysis revealed gender-specific differences in therapy recommendation.
the breast cancer patients underwent chemotherapy reported significant aftereffects. However, the evaluation of muscle strength and QoL were still limited. Hereby, the study aims to evaluate the correlation between muscle strength and QoL in Indonesian breast cancer patients. Methods: Participants were breast cancer women who underwent chemotherapy. Muscle strength was measured with a JAMAR handgrip. Breast cancer patients were evaluated their QoL from global health status and functional status which compromises the physical functioning (PF), role functioning (RF), emotional functioning (EF), cognitive functioning (CF) social functioning (SF). Assessment was done using the EORTC QLQ-C30. The correlation was analyzed with Pearson and Spearman correlation test. Results: A population of 80 breast cancer women was involved, with a mean age of 47.39AE7.0, median BMI of 23.15 (7.86-47.26) kg/m2 and median muscle strength of 16.5 (3-29) kg. The majority of the patients were stage 2 on diagnosis (76.3%). Median score for each domains were as followed, global health status¼66.67(0-100); PF¼93.33(0-133.33); RF¼100(0-133.33); EF¼83.33(33.33-100); CF¼100(16.67-100); and SF¼100(0-100). Correlations were found between muscle strength and global health status (r¼0.282, p¼0.011), PF (r¼0.373, p¼0.001), RF (r¼0.26, p¼0.02) whilst no correlation with EF (r¼-0.68, p¼0.549), CF (r¼0.038, p¼0.738), and SF(r¼0.214, p¼0.056). Conclusions: Muscle strength was correlated with quality of life, specifically in global health status, physical functioning, and role functioning in breast cancer patients. Overall, nearly all of the domains have good outcomes. Further assessment in patients' nutritional status and physical activity were needed. Legal entity responsible for the study: The authors.
e22504 Background: In oncology hereditary forms of malignant neoplasms occupy a special position due to the frequent cases at a young age and poor prognostic factors. The aim of this work is to determine in cancer patients germinal mutations which are responsible for cancer predisposition. Methods: The study included patients with burdened family history or those with a manifestation of malignant neoplasm at a young age residing on the territory of multinational Republic of Bashkortostan. The patients were diagnosed with one of these diseases: breast cancer, prostate cancer, pancreatic cancer, gastric cancer, colon cancer. The study is based on analyses of the molecular genetic blood testing n cancer patients using real-time polymerase chain reaction (PCR) for detection of 8 widely spread mutations among Russian population: in BRCA 1 gene were detected such mutations as 185delAG, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT, 300T>G, 2080delA; in gene BRCA 2 - 6174delT. Blood samples of the rest amount of patients which proved no mutations by PCR method was tested by the “next-generation” sequencing method (NGS). Results: The results of the study showed territorial features of presence of germinal mutations of Russian multinational region. The results of the study aimed to reveal the spectrum and frequency of gene mutations characteristic for the particular region: BRCA 1 - c.5266dupC, c.3143delG, c.5161C>T, c.5382 insC, c.3819delGTAAA, c.300T>G, c.5136G>A, 185delAG, 4153delA, 2080delA; BRCA 2 - c.6621_6622del, с.39-1_39delGA, c.961_962insAA; CHEK2 - c.470T>C, c.444+1G>A; PALB2 - c.1592delT; RAD50 - c.2157delA; MLH1 - c.1637A>G; MSH6 - c.2554_2556del; STK11 - c.368A>G; MSH2 - c.815C>T. According to the mutation detection the patient consulted a geneticist for making a genealogic tree for future molecular genetics exam. Hereinafter the control group included relatives of patients who remain potential carriers of pathogenic mutations of the proband using Sanger sequencing method. When penetrate mutations are identified in healthy population, a set of measures is taken to prevent and early diagnose malignant tumors. Conclusions: The results of the study showed features of presence of each detected mutation which is characteristic for south-eastern part of the Russian multinational region. This study plays an important role in the process of optimization of screening of germinal mutation carriers among healthy population and as a result it helps to conduct prophylactic measures to early diagnose malignant neoplasms.
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