High prevalence of "non-pathogenic" POLE mutation with poor prognosis in a cohort of endometrial cancer from South India.

OBJECTIVE: The Cancer Genome Atlas (TCGA) project identified favorable prognosis regarding the ultra-mutated endometrial cancer (EC) subtype linked to polymerase epsilon gene (POLE) mutations. This study investigated POLE mutations in EC of Indian patients. METHODS: This retrospective analytical study was conducted between January 2016 and January 2023 at the Government Medical College, Kozhikode, and the MVR Cancer Center, Kozhikode, Kerala. Sanger sequencing of POLE gene exons 9 and 13 in 151 EC patients was carried out to analyze the relationship between mutations and epidemiological factors, clinicopathologic features, and treatment outcomes. RESULTS: Among 151 cases enrolled, 39 were unique POLE-mutated cases. Significant associations were high-grade tumors, myometrial invasion >50%, and Lymph-vascular space invasion (LVSI). The median follow-up was 40 months (95% confidence interval [CI], 34-46). A lower mean disease-specific survival (DSS) of 51.7 months (95% CI, 43.7-59.6) was noted in the POLE-mutated group compared with 72.11 months (95% CI, 67.60-76.62) for the POLE wild-type. A statistically significant hazard ratio (HR) of 2.683 for DSS in the POLE-mutated group was noted. In advanced stages (FIGO stages II-IV), a nine-fold HR for DSS and overall survival (OS) compared with POLE wild-type was identified. After controlling for treatment effects using Cox proportional HR, advanced-stage POLE-mutated tumors had a significantly higher HR of 8.67 for DSS compared with POLE-wild-type tumors of the same stage. CONCLUSION: This study identified a unique set of POLE mutations in Indian EC patients associated with poor prognosis, which were particularly pronounced in advanced stages. Advanced stage of presentation, type of POLE mutations, and possibly ethnicity are predictors of adverse outcomes in POLE-mutated EC. The present study highlights ethnicity as a determinant of phenotypic expression of genetic change.

Adenoid Cystic Carcinoma of the Trachea.

Adenoid cystic carcinoma is very rare, with an incidence of 0.1 to 0.26 per one lakh people. It is the second most common primary malignancy of the trachea. The etiology, clinical manifestation and prognosis of ACC trachea in Indian scenario has not been discussed so far. We evaluated the clinical presentation, treatment and follow up details of six patients with ACC of trachea, who were treated in our Institute from January, 2006 to October,2014. Cough with expectoration, exertional dyspnoea and haemoptysis were the most frequent presentations. Proximal trachea was involved in five patients with lesion extending to subglottis in two patients. The male: female ratio was equal and most patients presented in the 4th decade of their life. Two patients were treated with total laryngectomy with proximal tracheal resection, two with tracheal resection and anastomosis and one with window resection. Four patients who were treated surgically received post operative radiation. One patient with inoperable disease was treated with radical radiotherapy. All the patients are doing well with a median follow up period of 42.8 months.

The adherence to medications in diabetic patients in rural Kerala, India.

We conducted a study to determine medications adherence and factors associated with poor adherence in community-dwelling adults with diabetes in southern India. A cross-sectional survey was conducted among 346 diabetes patients selected using multistage cluster sampling. The 8-item Morisky Medication Adherence Scale was used to collect information on adherence. Prevalence of poor adherence was 74% (95% confidence interval = 69.2-78.3). Multiple regression analysis showed that patients using oral hypoglycemic agents, who had lower per capita monthly expenditure, those with irregular blood sugar monitoring, who received limited diabetes management instructions from health professionals, who resorted to only symptomatic management, and those who did not receive family member's help to remember medications were more likely to report poor adherence compared with their counterparts. Interventions for patients using oral hypoglycemic agents, with lower expenditure, with irregular blood sugar monitoring, and which focus on better education and enhanced family support, are likely to enhance adherence in this population.