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Genes that may cause susceptibility to cancer may play a role in the etiopathogenesis of the CRC. NGS-based multigene panels allow these genes to be detected in the patient and to identify an inherited cancer syndrome. Key Words Colorectal cancer, Lynch syndrome, Hereditary cancer, Gene, Next generation sequencing.
Genes that may cause susceptibility to cancer may play a role in the etiopathogenesis of the CRC. NGS-based multigene panels allow these genes to be detected in the patient and to identify an inherited cancer syndrome. Key Words Colorectal cancer, Lynch syndrome, Hereditary cancer, Gene, Next generation sequencing.
To investigate the association between the ratio of negative/positive lymph nodes (RNP) and other clinic pathological parameters.
Descriptive study.
Faculty of Medicine, Cumhuriyet University, Sivas, Turkey, from February 2008 to December 2019.
Consecutive 119 patients with gastric adenocarcinoma, who underwent gastrectomy and D2 lymph node dissection, were included. selleck chemical RNP, other clinicopathological parameters such as tumour grade, type and lymphovascular invasion (LVI) were analysed, as their prognostic impact was investigated.
RNP was an independent prognostic factor for overall survival (p = 0.003) and was significantly associated with poor survival (p <0.001). Advanced pathologic T and N stage, presence of perineural invasion (PNI), presence of LVI, high tumour grade, and diffuse-type as per Louren's classification, and the number of the negative lymph nodes were also significantly associated with poor survival (all p <0.05). Although pathologic N stage (p <0.01), PNI (p <0.01), LVI (prectomy, Lymph nodes.
To determine the relationship between resected specimen length and tumor location, the number of LN harvested (LNh), and the positive LN ratio (LNR) in colon cancer.
A descriptive study. Place & Duration of Study Department of General Surgery, University of Health Sciences, Dışkapı Yıldırım Beyazıt Training and Research Hospital, Ankara, Turkey, between January 2009 and December 2019.
Colon specimens resected for colon cancer were evaluated retrospectively, in terms of tumor location, type of surgery, resected colon length, LNh and the number of metastatic LN, based on hospital records. Chi-square test, Kruskal-Wallis along with Dunn-Bonferroni post hoc tests were applied. The lymph node ratio (LNR) (= ratio of LN+ to LNh), the number of lymph nodes per unit distance (LNh/cm), the ratio of LNR to length of specimen (LNR/cm) were evaluated.
The rate of ≥12 LNh in 644 colon cancer patients was 81.4%. The length of colon specimen and the number of harvested lymph nodes (LNh) were higher in patients, cimen for an adequate LN dissection in colon cancers. Key Words Colon cancer, Harvested lymph node, Specimen length, Adequate dissection.
To determine the diagnostic value of breast and axillary maximum standard uptake (SUVmax) values for predicting ypT0 and ypN0 separately.
A descriptive study.
Department of Medical Oncology, Haydarpasa Numune Training and Research Hospital, between May 2017 and September 2020. Methodology Consecutive patients with operated breast cancer (BC) after neoadjuvant chemotherapy (NAC) were evaluated. SUVmax on FDG-PET/CT after NAC at both primary tumour (postSUVmax-T) and axillary lymph nodes (postSUVmax-N) were assessed to predict the ypT0 and the ypN0, respectively. Results Clinically meaningful correlation was detected between postSUVmax-N with ypN0 in patients with human epidermal receptor-positive (Her2+) and triple-negative (TN) BC (in Her2+ BC r=0.596, p <0.001, in TN BC r=0.782, p = 0.001). The postSUVmax-N predicted ypN0 with 90.5% positive predictive value (PPV) and 85.7% negative predictive value (NPV) in patients with Her2+ and TN BC. The postSUVmax-T predicted ypT0 with 87.5% PPV and 100% NPV i predicted ypN0 with 90.5% positive predictive value (PPV) and 85.7% negative predictive value (NPV) in patients with Her2+ and TN BC. The postSUVmax-T predicted ypT0 with 87.5% PPV and 100% NPV in patients with TN BC (AUC 0.938, P less then 0.01) Conclusion According to this study's findings, the FDG-PET/CT may be an alternative to sentinel lymph node biopsy (SNB) to protect patients from axillary lymph node dissection when the expected FNR of the SNB is high in patients with Her+ and TN BC. Key Words Breast cancer, FDG PET/CT, Neoadjuvant therapy.
To determine the high risk-human papillomavirus (HR-HPV) prevalence, genotype distribution, and associated risk factors in women with general gynaecological problems.
Descriptive, cross-sectional study.
Lady Wallingdon Hospital, Lahore from August 2018 to May 2019.
One hundred females with general gynaecological problems constituted the sample. Real-time polymerase chain reaction and liquid base cytology were performed for HR-HPV detection, genotyping, and cytological changes in cervical samples.
The overall prevalence of HR-HPV was found to be 57%, with the most frequent HR-HPV genotypes HPV 16 (18%), HPV 18 (6%), and HPV 45 (1%). The total prevalence of single HR-HPV infection was 25%; whereas, multiple co-infection of HR-HPV was seen in 32% of cases. In total, 81% of these women had normal cytology and 19% had cytologic abnormalities. A significant association was observed between HR-HPV infection and general gynaecological complaints and between HR-HPV infection and cytological abnormalities (p < 0.001).
The HR-HPV prevalence was 57% with the most prevalent genotypes were HPV 16 and HPV 18. The results will also aid the identification of HR-HPV 51 and 31 genotypes, which should be added in the multi-type HPV vaccines. Key Words Cancer of cervix, Human papillomavirus, Papanicolaou test, Pakistan.
The HR-HPV prevalence was 57% with the most prevalent genotypes were HPV 16 and HPV 18. The results will also aid the identification of HR-HPV 51 and 31 genotypes, which should be added in the multi-type HPV vaccines. Key Words Cancer of cervix, Human papillomavirus, Papanicolaou test, Pakistan.
To identify the biotinidase (BTD) gene mutations in patients with biotinidase deficiency in our region; and to determine the phenotype-genotype correlations in the presence of clinical findings.
Descriptive study.
Department of Medical Genetics and Pediatric Metabolism Outpatient Clinic, Faculty of Medicine, Harran University, between January 2018 and June 2020.
Two hundred and nine patients, who were found positive for biotinidase deficiency in heel blood screening, were included. Genomic DNA was isolated from peripheral blood. Next-generation DNA sequencing analysis was performed using primers covering the exon regions of the BTD gene. The results were analysed by the mutation surveyor programme.
The most common mutation was c.1330 G>C (p.D444H) and the second most common mutation was c.470 G>A (p.R157H). The majority of the mutations are missense; and they are especially located in the exon 4. The most frequent mutations were found to be D444H and R157H with a rate of 66.66% in symptomatic patients.
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