The aim of the study was to investigate the molecular genetics of uveal melanoma (UM) metastases and correlate it with disease progression. Twelve pathologically confirmed UM metastases from 11 patients were included. Molecular genetic alterations in chromosomes 3 (including the BAP1 region), 8q, 6p, and 1p were investigated by microsatellite genotyping. Mutations in codon 209 of GNAQ and GNA11 genes were studied by restriction-fragment length polymorphism (RFLP). We identified monosomy of chromosome 3 in tumors from four patients with an average survival of 5 months (range 1–8 months) from time of diagnosis of metastatic disease. In contrast, tumors with either disomy or partial chromosome 3 alterations showed significantly slower metastatic disease progression with an average survival of 69 months (range 40–123 months, p = 0.003). Alterations in chromosomal arms 1p, 6p, and 8q and mutations in either GNAQ or GNA11 showed no association with disease progression. Prominent mononuclear inflammatory infiltrate was observed in tumors from patients with slowly progressive disease. In conclusion, in UM metastases, monosomy 3 is associated with highly aggressive, rapidly progressive disease while disomy or partial change of 3 and prominent mononuclear inflammatory infiltrate in the tumor is associated with better prognosis. These findings should be considered when designing clinical trials testing effectiveness of various therapies of metastatic UM.
An 11% incidence of portal and mesenteric venous calcification was found in patients with cirrhosis, which was much higher than anticipated. Two (29%) of seven patients who had calcification present on CT and underwent liver transplantation died at surgery as a result of portal venous thrombosis. Thus, venous calcification seen on CT is a significant finding in patients undergoing liver transplantation.
Objective: The present study was planned with an aim to study the profile of surrogate markers of molecular subtypes using the expression pattern of ER, PR, and HER2/NEU receptors in operable breast cancer so that most effective and advantageous treatment can be offered for better surgical outcomes.
Methods: A cross-sectional observational study was carried out in one of the tertiary care centers in Central UP. All patients presenting to the center with early and locally advanced breast cancer with age bracket between 18 and 75 years during 2-year period and willing to participate in the study were included in the sample size. Clinical staging was done using the standard TNM criteria and all the specimens were subjected to immunohistochemical evaluation for surrogate molecular subtyping
Results: Out of 94 cases enrolled in the study, a total of 32 (34.4%) were identified as luminal A, 3 (3.2%) were identified as luminal B, 35 (37.6%) were identified as HER2 positive, and remaining 23 (24.7%) were identified as triple negative. Statistically, there was no significant difference among groups with respect to age (p=0.958) and BMI (p=0.332). However, there was a significant difference among groups with respect to clinical stage (p=0.031), clinical nodal involvement (p=0.014), pathological staging (p=0.006), and pathological nodal involvement (p=0.023). Among those with nodal involvement, all the cases had involvement of one node except for one patient in Group I who had involvement of thrMost of the luminal A cases (81.3%) were clinically Stage 1 or 2. All the luminal B cases were clinically Stage 2 or 3 (100%). Almost half (48.8%) of Her2-negative cases were Stage 3 or 4. Majority of triple-negative cases were Stage 3 or 4 (65.2%). Clinically, nodal involvement was seen to be maximum in Her2-negative and triple-negative groups (54.3% and 52.2% of cases, respectively). Pathologically, most of the luminal A (83.9%), Her2 negative (81.8%), and all the luminal B cases were Stage 2. Pathologically, nodal involvement was seen in 16.1% of luminal A, 42.4% of Her2-negative, and 50% of triple-negative cases.
Conclusion: The findings of the present study provided a glimpse of expression pattern of ER, PR, and HER2/NEU receptors in operable breast cancer based on which most effective and advantageous treatment can be offered for better surgical outcomes.
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