PURPOSE Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. PATIENTS AND METHODS Data were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort. Survival outcomes were analyzed for patients followed prospectively from the time of surveillance implementation. RESULTS A total of 193 malignant tumors in 110 patients were identified. Median age of first cancer diagnosis was 9.2 years (range: 1.7-39.5 years). For patients undergoing surveillance, all GI and other solid tumors, and 75% of brain cancers were detected asymptomatically. By contrast, only 16% of hematologic malignancies were detected asymptomatically ( P < .001). Eighty-nine patients were followed prospectively and used for survival analysis. Five-year overall survival (OS) was 90% (95% CI, 78.6 to 100) and 50% (95% CI, 39.2 to 63.7) when cancer was detected asymptomatically and symptomatically, respectively ( P = .001). Patient outcome measured by adherence to the surveillance protocol revealed 4-year OS of 79% (95% CI, 54.8 to 90.9) for patients undergoing full surveillance, 55% (95% CI, 28.5 to 74.5) for partial surveillance, and 15% (95% CI, 5.2 to 28.8) for those not under surveillance ( P < .0001). Of the 64 low-grade tumors detected, the cumulative likelihood of transformation from low-to high-grade was 81% for GI cancers within 8 years and 100% for gliomas in 6 years. CONCLUSION Surveillance and early cancer detection are associated with improved OS for individuals with CMMRD.

Aim: Breast cancer is one of the most common cancers of women in India with high fatality rate. Over a 1 year study period 105 consecutive biopsy or fine needle aspiration cytology confirmed breast cancer patients were interviewed by direct questionnaire method regarding risk factors attending Surgery and Radiotherapy OPD of Medical College Kolkata, West Bengal while taking other 105 patients attending Surgery Department for some other disease as controls. The data were compiled in MS Excel 2007 and analyzed by Epi info 3.5.1 software. Among the cases, rural residence, illiteracy and low socio-economic status was significantly higher than controls. Late onset of menarche, late onset of menopause, ever OCP usage, breast feeding for 1-2 years and age of 1st childbirth between 20-30 years were found to be significant protective factors. People should be made aware regarding the modifiable risk factors to prevent breast cancer.Keywords: Breast cancer -multiparity -breast feeding -menarche -menopause -age of 1 st child birth -India

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Panayiotopoulos syndrome is early-onset benign childhood epilepsy, now classified as an electroclinical syndrome. The original description in 1989 focused on the triad of nocturnal seizures, tonic eye deviation, and vomiting. With available data from the long-term studies, a wide variety of manifestations have been described, with recognition of autonomic features as being the most prominent aspect of this epilepsy. The presenting symptoms are usually focal seizures comprising autonomic symptoms and/or behavioral changes. Majority of these seizures are in sleep, with half of the seizures progressing to become secondarily generalized. Occasionally, these seizures can present with prominent autonomic features such as ictal vomiting, pallor, flushing/cyanosis, and tachycardia with prolonged thermoregulatory changes lasting for hours, constituting autonomic status epilepticus. Recovery from this autonomic status epilepticus is within hours and is always complete. Autonomic status epilepticus has been previously reported in this epilepsy syndrome, but ictal cardiorespiratory arrest is extremely rare, with only 4 cases being reported in literature. All 4 cases reported in literature recovered spontaneously and did not require resuscitation. Here we present a 3½-year-old male child with Panayiotopoulos syndrome who presented with status epilepticus and ictal cardiorespiratory arrest requiring cardiopulmonary resuscitation for revival.