CDKN1B 109VG and CDKN2A (540CG & 580CT) polymorphisms and susceptibility to colorectal cancer: A case-control study of the Iranian population
GENE REPORTS
Authors: Gohari, Nazanin; Saadat, Iraj
Abstract
Background: One of the most important factors leading to tumorigenesis is abnormality in the cells proliferation, because of the irregularity in cell cycle progression. CDKN2A (p16) and CDKN1B (p27) are tumor suppressors and regulators of cell cycle at G1 and G1-S transition. Any disorders in activity or expression of these two tumor suppressors can cause cancer. Aims: In this study, we appraised the relationship between 3 polymorphisms: p27 109VG (rs2066827) in exon1 and p16 [540CG (rs11515), 580CT (rs3088440)] in 3'UTR with the risk of colorectal cancer susceptibility in Iranian population. Subjects and methods: This case-control study was carried out on 214 cases with CRC and 233 control subjects. For p27 109VG and p16 (540CG, 580CT) genotyping, PCR-RFLP technique was used. Results: Logistic regression analysis revealed that G allele of p16 540CG significantly decreased the risk of CRC (OR = 0.63, CI = 0.42- 0.95, P = 0.031), but subjects with TT genotype of 580CT are more likely to develop CRC (OR = 4.63, CI = 1.28-16.71, P = 0.019). There were no significant relationships with p27 109VG and haplotype of p16 (540CG, 580CT) with CRC risk in Iranian population. However, coincidence in VG genotype of p27 109VG and CC genotype of p16 540CG has significantly increased the susceptibility to colorectal cancer (OR = 2.02, CI = 1.02-3.98, P = 0.042). Conclusion: This study indicates that the p16 [540CG (rs11515), 580CT (rs3088440)] polymorphisms are associated with the risk of CRC in Iranian population.
Glans metastatic extra-nodal natural killer/T-cell lymphoma, nasal-type with HDAC inhibitor as maintenance therapy: a rare case report with literature review
ANNALS OF PALLIATIVE MEDICINE
Authors: Fu, Chunxi; Yang, Chunli; Li, Qiaoer; Wang, Ling; Zou, Liqun
Abstract
Extra-nodal natural killer/T-cell lymphoma (ENKTL) is an aggressive lymphoid malignancy and advanced ENKTL is characterized by a dismal survival outcome. Distant metastasis is frequently common in advanced ENKTLs, while the glans is rarely involved. Here we report a 67-year-old Chinese male with glans metastasis ENKTL, nasal type secondary from the nasal cavity, treated with modified SMILE regimen plus glans radiotherapy and achieved a complete remission (CR). Since the poor prognosis of metastatic ENKTL and unfitness for hematological stem cell transplant (HSCT) we administered histone deacetylase MAC) inhibitor Chidamide as maintenance therapy, which was resulted in a progression-free survival (ITS) of 12 months. To investigate the gene alternations, the whole exon sequencing and the 446-gene panel sequencing were performed and we found the BCOR, KRAS, CDKN1B, XPO1, DOT1L, genes mutations. Best to our knowledge, this is a glans metastasis ENKTL with the longest PFS and die most successful treatment.