ABSTRACT
BACKGROUND: The few studies of the molecular biology of colorectal cancer (CRC) in Middle Eastern populations have included only small samples of patients. OBJECTIVE: Evaluate the frequency and prognostic effect of RAS, BRAF, PIK3CA, PTEN, and EGFR somatic mutations as well as mismatch repair (MMR) deficiency in Lebanese Middle Eastern patients. DESIGN: Retrospective single-center descriptive study. SETTING: Lebanese Middle Eastern patients in a tertiary medical cen.ter. METHODS: We included all patients diagnosed with CRC between January 2010 and December 2015, in whom RAS mutational status and the expression of MLH1 and MSH2 proteins were available. MAIN OUTCOME MEASURES: Genetic mutations detected by direct sequencing while MMR protein expression was evaluated by immunohistochemistry. SAMPLE SIZE: 645 patients. RESULTS: RAS, BRAF, EGFR, PI3KCA, and PTEN mutation rates were 38.5%,12.9%, 0%, 11.1% and 0% respectively. The MMR deficiency rate was 20.6%. No factor was associated with RAS mutation whereas MMR-deficient tumors were less likely to be metastatic at diagnosis. Among patients with wild-type RAS females fared better than males (median overall survival [OS]=1734 vs 1079 days respectively, P=.015) even after adjustment for confounding factors by Cox regression analy.sis. This finding was not reproduced in the RAS-mutated group. The median OS of patients with MMR-deficient tumors was not reached, while the median OS was 2475 days in patients who had maintained expression of both MLH1 and MSH2. CONCLUSION: The RAS mutation rate was similar to Western and East Asian countries, but not for the BRAF mutation and MMR deficiency. We also found a prognostic effect for sex in the RAS wild-type group, a finding worthy of further exploration. LIMITATIONS: Retrospective, single center and small sample size. Expression of MSH6 and PMS2 not analyzed. CONFLICT OF INTEREST: None.
Subject(s)
Biomarkers, Tumor/genetics , Colorectal Neoplasms/genetics , Nuclear Proteins/genetics , Biomarkers, Tumor/metabolism , Colorectal Neoplasms/diagnosis , Colorectal Neoplasms/epidemiology , Female , Humans , Immunohistochemistry , Incidence , Lebanon/epidemiology , Male , Middle Aged , Promoter Regions, Genetic , Retrospective StudiesABSTRACT
BACKGROUND: Cutaneous metastases from internal malignancies are uncommon. Moreover, endometrial carcinoma rarely metastasizes to the skin, with a reported prevalence of 0.8%. Here, we report the case of a 62-year-old woman who developed cutaneous metastases from an endometrial carcinoma. CASE PRESENTATION: When admitted to our department, the patient underwent a biopsy that showed the presence of cutaneous metastasis in relation to her initial endometrial cancer, diagnosed 3 years earlier. Thereafter, she was treated with a bilateral uterine artery embolization and chemotherapy. The patient had complications and survived 5 months after the diagnosis of the cutaneous metastasis. She died from sepsis. CONCLUSION: Cutaneous metastases of the endometrial carcinoma are usually incurable and suggest an unfortunate prognosis where palliation is the mainstay of patient management.