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BACKGROUND: There is no reliable prognostic and predictive biomarkers for clear cell renal cell carcinoma (cc-RCC). METHODS: DNA from 47 cc-RCC tissue samples were sequenced using next generation sequencing and a customized gene panel testing for tumor-driver genes including 19 Mucin genes. RESULTS: Distinctive variants in 12 Mucin genes were present in all samples. These genes are: MUC2, MUC3A, MUC4, MUC5AC, MUC5B, MUC6, MUC7, MUC12, MUC16, MUC17, MUC19, and MUC22. The numbers of distinctive and non-distinctive variants were counted for each sample. The median number of variants was 455. High variant number (HVN) (>455) was associated with shorter overall survival compared to low variant number (≤455) [Median 50 months vs. not reached; P=0.041]. In the 11 patients who received anti-angiogenic tyrosine kinase inhibitors (TKIs), HVN was associated with a trend of shorter progression free survival. CONCLUSION: Alterations in Mucin family genes are common in ccRCC. HVN is associated with worse prognosis and may predict decreased benefit from anti-angiogenic TKIs. KEY WORDS: Mucin; Variants; Renal cell carcinoma; Biomarker; Tyrosine kinase inhibitors.

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BACKGROUND: Anthracyclines are one of the most effective chemotherapeutic agents in management of Breast cancer, however Anthracycline induced cardiotoxicity remains a matter of special concern. Detection of early toxicity by use of biomarkers like Troponins has been the focus of interest in recent years. We measured Troponin I levels after chemotherapy with anthracyclines and correlated it with ECG, Echocardiography and clinical findings. METHODS: Patients with early Breast cancer eligible for chemotherapy were included in the study. All patients underwent clinical evaluation, Left Ventricular Ejection Fraction (LVEF) measurement by echocardiography at baseline and every 03 monthly for first year. Serum samples for TNI were obtained immediately after chemotherapy and after 24 hrs. RESULTS: A total of 82 patients (all females) were included in the study. Median age was 47 (range 30-64) years. Anthracycline mediated cardiotoxicity occurred in 6 patients (7%) and was more frequent in patients with TNI elevation (p<0.001). Five patients (83%) recovered from cardiotoxicity. At multivariate analysis, TNI elevation was the only independent predictor of cardiotoxicity (95% CI 0.0007879-0.2821) and of lack of LVEF recovery (95% CI 0.002484 to 1.680). CONCLUSIONS: Measurements of Trop I levels after Anthracyclines can be useful in detecting early cardiotoxicity and tailoring further therapy.

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We report a case of 21 years old lady who presented with ascites, left adnexal mass and elevated CA-125. With suspicion of ovarian malignancy, she underwent left salpingo-oophorectomy with omental biopsy. Histopathology revealed: 'follicular variant of papillary thyroid carcinoma arising in struma ovarii' with metastatic papillary thyroid carcinoma in omental and peritoneal nodules. Patient underwent total thyroidectomy followed by radioactive iodine therapy for metastatic omental and peritoneal disease. Post-therapy whole body scan, revealed extensive I-131 avid disease metastatic disease involving the chest, abdomen, pelvis and the musculoskeletal system. Patient was treated with multiple doses of high dose radioactive iodine. She became symptom free on supra-physiologic doses of oral thyroxin however her high thyroglobulin levels and residual radioiodine avid metastatic disease required further treatment. In literature a few cases of struma ovarii have been reported with elevated CA-125 and associated pseudo-Meigs' syndrome. The treatment for this rare disease is still not standardized and poses a therapeutic challenge. Our case emphasizes the need for a multidisciplinary approach for managing struma ovarii.

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OBJECTIVE: To present our experience of treatment outcomes in adult osteosarcoma patients. METHODS: The retrospective study was conducted at the Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan, and comprised data related to 74 adult patients with osteosarcoma from 1995 to 2009. The treatment plan consisted of surgery preceded by neo-adjuvant chemotherapy followed by adjuvant chemotherapy. SPSS 16 was used for statistical analysis. RESULTS: Of the 74 patients in the study, 58 (78%) were in the 18-29 age group with an overall male-to-female ratio of 3:1. The commonest site of disease was femur, 30 (43%). Of the 66 (89%) patients undergoing definitive surgery, 59 (89.4%) had amputation. The remaining 7 (10.6%) limb salvage operations were in the neo-adjuvant chemotherapy group. Good histopathological response rates in high-dose methotrexate containing regimens and other regimens were similar with an overall good response rate of 18/51 (35%). The commonest site of relapse was lung.Twelve out of 27 (44%) patients with lung-only metastases underwent successful metastatectomy. For patients with localised disease at presentation 3-year event-free survival was 30%, and 3-year overall survival was 71%. For patients with metastases at presentation 3-year overall survival was 45%. Median overall survival for patients receiving high-dose methotrexate and other regimens was 1.7 years vs 2.9 years. CONCLUSION: Adult osteosarcoma treated with cisplatin/doxorubicin based chemotherapy and surgery had good outcomes. The role of high-dose methotrexate in adult osteosarcoma remains uncertain.

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BACKGROUND: Serum levels of vitamin-D are low in breast cancer patients. Vitamin-D levels have inverse correlations with postmenopausal state, obesity, poor sun exposure and low intake of vitamin-D rich diet. The objective of this study was to quantify levels of vitamin-D in serum to determine the degree of vitamin-D deficiency in breast cancer patients compared with age matched controls and to observe the association between serum 25-OH vitamin-D levels and personal and social parameters, BMI, amount of sun exposure and dietary intake. METHODS: In this cross-sectional analytical study all newly diagnosed breast cancer female patients were recruited into the study over a period of 6 months. Age matched healthy females were also recruited as a control group. Personal and social data was documented on to a pro forma. Sun exposure was determined by mid-day exposure to direct sunlight. Serum 25-OHD levels were studied by ELISA technique on the blood samples. The dietary information was collected by recall over the last 1 year. RESULTS: Vitamin-D deficiency was found in 99% breast cancer females and 90% in healthy females. Mean serum vitamin-D level was 9.6 ± 5 ng/ml and 15.2 ± 10 ng/ml for cases and control group respectively. All breast cancer and 95% healthy females with BMI > 30 were found to be vitamin-D deficient. Menopausal state, parity, parda (veil) observation, area of living and sun exposure did not affect vitamin-D status in either group. Egg, fish and cheese intake revealed correlation with vitamin-D deficiency. Forty percent healthy females were found to have deficient serum vitamin-D levels despite being on supplement. CONCLUSION: Vitamin-D deficiency was highly prevalent among breast cancer females. Serum 25 OHD levels exhibited an inverse correlation with high body mass index and vitamin-D rich diet.

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AIM: The aim was to determine serum vitamin D levels in breast cancer patients and to assess its risk association with grade and stage of the tumor. MATERIALS AND METHODS: Ninety breast cancer patients and equal number of age-matched healthy females were recruited into the study by consecutive sampling over a period of 6 months for this case control study. Serum 25(OH)2D levels and CT bone mineral density was done. RESULTS: The mean age was 46±1.5 years. Age, marital status, menopausal, residential area, parda observing status, and body mass index were similar in distribution among cases and controls. The mean serum vitamin D level in the breast cancer patients was 9.3 ng/ml and in the control group was 14.9 ng/ml (P value <0.001). Vitamin D deficiency was seen in 95.6% (86) breast cancer patients and in 77% (69) of the control group (P value <0.001). Among the breast cancer patients the tumor characteristics (histology, grade, stage, and receptor status) did not show any significant associations with serum levels of vitamin D. Premenopausal breast cancer females had a mean serum vitamin D level of 10.5 ng/ml and postmenopausal females had a mean value of 13.5 ng/ml (P value 0.015). Low BMD did not correlate significantly with vitamin D deficiency (P value 0.787). CONCLUSION: Invariably almost all patients with breast cancer were vitamin D deficient. Tumor characteristics did not show any significant associations with serum levels of vitamin D. Bone mineral density did not correlate significantly with vitamin D deficiency.

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Pelvic-peritoneal tuberculosis is a common extrapulmonary site in young females mimicking an advanced ovarian malignancy. We present 2 cases with the classical triad of advanced-stage ovarian carcinoma-ascites, abdominopelvic masses and elevated serum CA-125 levels. Laparoscopic examination revealed peritoneal nodules which on biopsy showed granulomatous inflammation and no malignant cells. Patients were started on anti-tuberculous therapy and on follow-up their symptoms as well as CA-125 levels normalized. Medical awareness of peritoneal tuberculosis is lacking and many young women with this disease undergo unnecessary extended surgery. Diagnostic laparoscopy combined with peritoneal biopsy seems to be a sufficient and safe method to provide a definitive diagnosis for this curable infection. If left untreated, the disease may disseminate and result in significant organ dysfunctions particularly infertility.

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Ifosfamide, a commonly used chemotherapeutic agent in various regimens for many malignancies and has a well known central nervous system side effect. Ifosfamide induced encephalopathy develops in approximately 10-30% of patients exposed to the drug. It is generally reversible after discontinuing the therapy; however cases of fatal neurotoxicity have been reported in literature. Commonly used antidote, Methylene blue; has a moderate efficacy in reversing the encephalopathy followed by lesser response rates by Thiamine. We submit a case report of a young female patient with refractory diffuse large B cell lymphoma who developed severe ifosfamide neurotoxicity. With the use of intravenous thiamine, encephalopathy resolved in our patient within a mean time of 30 hours (average range is 10-30 hours). We found Thiamine to be safe and effective in treatment for ifosfamide induced encephalopathy.

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