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.

Consumption Coagulopathy in Paediatric Solid Tumours: A Retrospective Analysis and Review of Literature.

INTRODUCTION: Disseminated intravascular coagulation or consumption coagulopathy is a well-recognized entity both in various malignant and non-malignant conditions. Most data in paediatric solid tumours are isolated case reports, while there is sparse data in paediatric acute leukaemia. OBJECTIVE: The study was conducted to analyze the incidence of DIC in our population of paediatric solid tumours. DESIGN: All records of children <15 years of age registered in the Paediatric Oncology department of our institute with a diagnosis of solid tumour malignancy were retrospectively reviewed for evidence of DIC. RESULTS: Out of the 73 children, 4 have developed DIC, an incidence of 5.5%. The mean age of children who developed DIC was 4.6 years (Range- 2months -15 years) and the majority (2/4- 50%) children were less than 1 year of age. Children with DIC had a male predominance (75%) and the majority (75%) presented in advanced stages of the disease. Of the 10 children with neuroblastoma, 2 (20%) had evidence of DIC. Statistical analysis was done to determine whether any patient characteristic had the propensity to develop DIC. The only factor that attained statistical significance was younger age. CONCLUSION: Disseminated intravascular coagulation though uncommon in children should always be thought of in a child with advanced disease presenting with thrombocytopenia or clinical manifestations of bleeding tendency. An index of suspicion is important for early diagnosis and emergent treatment which eventually improves survival.

Analysis of neoadjuvant therapies in breast cancer with respect to pathological complete response, disease-free survival and overall survival: 15 years follow-up data from Kuwait.

AIMS: Optimizing neoadjuvant chemotherapy regimens is essential for achieving maximal pathological complete response (pCR) in patients with breast cancer. pCR is usually considered as a surrogate marker for survival. The aim of this study was to analyze pCR with respect to various neoadjuvant regimens and its effect on survival. METHODS: This retrospective analysis included 377 patients with stages II and III breast cancer treated between 1998 and 2009 with neoadjuvant chemotherapy. Neoadjuvant regimens were analyzed with respect to pCR, disease-free survival (DFS) and overall survival (OS). RESULTS: The median age of our population was 50 years with the majority being premenopausal and locally advanced. The overall pCR rate was 13.7% with higher rates seen in patients receiving combination of anthracyclines and taxanes (14.2%). The practice of sandwiching surgery and chemotherapy was inferior to true neoadjuvant chemotherapy of eight cycles. Addition of trastuzumab to Her2 positive patients resulted in higher pCR rates (P = 0.006). Achievement of pCR with neoadjuvant chemotherapy resulted in significantly higher DFS and OS. CONCLUSION: pCR is associated with better survival in breast cancer patients receiving neoadjuvant chemotherapy. Initial anthracycline-based chemotherapy followed by non-cross-resistant taxane-based chemotherapy along with the addition of trastuzumab in Her2 positive patients might be the optimal neoadjuvant regimen in breast cancer patients.

MALT lymphomas -Treated with chemotherapy or radiotherapy: Clinical Features, Prognostic factors and Survival.

OBJECTIVE: MALT lymphomas are a group of extranodal indolent lymphomas that usually present as stage IE. To clarify clinical features, treatment alternatives and outcomes, we evaluated 38 patients treated with chemotherapy or radiotherapy between 2000 and 2011. PATIENTS AND METHODS: MALT lymphoma patients identified according to WHO classification and treated at KCCC between 2000 and 2011 were included in this study. Demographic and clinical data are presented as means or medians. Overall survival was estimated using the Kaplan-Meier method. Survival rates were compared using the log-rank test. A p value < 0.05 was considered significant. RESULTS: The median age of the patients was 49 years and the male to female ratio was 2:1. Gastric MALT accounted for 63% of all patients and the most common presenting symptom was abdomen pain and dyspepsia. The common extra gastric sites were salivary glands, lung and orbit. 90% of the patients presented with early stage disease. Two patients had history of pre-existing autoimmune disease. Even among patients who had failed prior antibiotic therapy for Helicobacter pylori, treatment with chemotherapy achieved good results with 5 year survival of 80%. CONCLUSION: MALT lymphomas are indolent neoplasm's with excellent long term outcome. There is no significant difference in survival between gastric and extra-gastric MALT lymphoma. KEYWORDS: MALT lymphoma, Gastric Neoplasm, H. pylori.

Subdural haematoma with spontaneous resolution--rare manifestation of idiopathic thrombocytopenic purpura.

Spontaneous intracranial haemorrhage presenting as subdural haematoma is an extremely rare presentation in adults due to idiopathic thrombocytopenic purpura. There are only five such case reports available in the literature and four had surgical evacuation of haematoma, while only one had spontaneous resolution. We report the case of a middle aged female who presented with bilateral papilloedema and later diagnosed to have subdural haematoma as a complication of idiopathic thrombocytopenic purpura, which had a spontaneous resolution.

Acute lymphoblastic leukemia presenting as breast mass.

We present here a 34 years female who presented with bilateral breast lumps as the initial manifestation of acute lymphoblastic leukemia. She was treated with consolidation chemotherapy and showed good response.