Epidermal growth factor receptor mutation in adenocarcinoma lung in a North Indian population: Prevalence and relation with different clinical variables.

INTRODUCTION: Lung cancer is one of the most common causes of cancer deaths worldwide. Adenocarcinoma is taking over squamous cell lung cancer as the predominant histological subtype. Several cytotoxic drugs are available for the treatment of lung cancer, but side effects limit their use. Recently, targeted therapies for cancers have come into clinical practice. AIMS AND OBJECTIVES: To determine the prevalence of epidermal growth factor receptor (EGFR) mutation in adenocarcinoma lung in a North Indian population and its relation with different clinical variables. MATERIALS AND METHODS: A total of 57 patients who met inclusion criteria were recruited into the study. Relevant history, clinical examination and investigations were done. EGFR mutation was done in all patients. RESULTS: A total of twenty patients tested positive for EGFR mutation. EGFR was more frequently detected in female patients (53.8%), while as only 19.4% of the male patients expressed EGFR mutation, which was statistically very significant (P = 0.007). EGFR mutation was more frequently detected in nonsmokers (52%) as compared to smokers (21.9%) which also was statistically significant (P value of 0.018). EGFR mutation was more common in Stage III and IV adenocarcinomas (48%) as compared to Stage I and II (21.4%) which was statistically significant (P value 0.034). CONCLUSION: EGFR mutation should be routinely done in all patients of adenocarcinoma lung particularly non-smoker females with Stage III and IV disease.

Polymorphism of Metastasis Suppressor Genes MKK4 and NME1 in Kashmiri Patients with Breast Cancer.

Genetic polymorphisms in metastatic suppressor genes like MKK4 and NME1 are not well studied in breast cancer. Hence, we analyzed the relationship between MKK4 and NME1 polymorphisms and breast cancer risk in Kashmir, India. The different genotypes of NME1 and MKK4 genes were analyzed by polymerase chain reaction and restriction fragment length polymorphism in 130 breast cancer cases and 200 age- and sex-matched controls. Conditional logistic regression models were used to assess the association of various genotypes with breast cancer. In this study, we found an inverse association between MKK4 promoter polymorphism and breast cancer risk. As compared to TT (wild) genotype, individuals with TG (heterozygous) (OR = 0.32; 95% CI = (0.17-0.58) and GG (mutant) (OR = 0.13; CI = 0.04-0.40) genotypes showed decreased risk of breast cancer. When participants were classified on the basis of lymph node involvement, a strong association between NME1 heterozygous genotype (OR = 3.82; CI = (1.54-9.44) and breast cancer was found.

Sunitinib in metastatic renal cell carcinoma (mRCC): a developing country experience. Do our patients behave differently than the Western patients?

BACKGROUND: Metastatic renal cell carcinoma (mRCC) has historically been refractory to cytotoxic and hormonal agents. IL-2 and IFN-α provide response in a minority of patients. Small molecule tyrosine kinase inhibitors and monoclonal antibodies have established a role in the setting of mRCC. However, there is a lack of data from the Indian subcontinent. The aim of this study was to look whether our patients behave similarly as reported in the Western data to targeted agents, especially sunitinib. METHODS: The study was a prospective observational study conducted for a period of 5 years from 2011 to 2016. Sixty-three patients received targeted agents and were recruited in the study. Five patients were excluded for various reasons, and three were lost to follow-up. Fifty-five patients were properly studied and followed up. Fifty patients received sunitinib, four patients received sorafenib, and one patient received parenteral temsirolimus. Patients were followed for AEs and survival. RESULTS: The most common AEs in patients taking sunitinib were fatigue (70 %), hand-foot syndrome (62 %), skin rash (58 %), mucosal inflammation (58 %), anorexia (42 %), skin discoloration (42 %), followed by dry mouth, dysgeusia, dyspepsia, dry skin, dry mouth, hair color changes, hypothyroidism, alopecia, oral pain/stomatitis, hypertension, decreased weight, photosensitivity, peripheral edema, erythema, and others. The median overall survival in our patients was 13.2 (95 % CI 10.1-16.5), progression-free survival was 8.1 months (95 % CI 6.4-10.5), and objective response was seen in 36 %. CONCLUSION: Non-Western patients behave differently with sunitinib therapy compared to Western patients. Our patients have more mucocutaneous side effects and lesser overall survival.

Peripheral Primitive Neuroectodermal Tumor of Breast.

Peripheral primitive neuroectodermal tumor (PNET) is a malignant tumor of the young, usually found in bony structures. It is extremely rare to find it in the breast. Only 9 cases have been reported in the medical literature. A35-year lady had a painless lump in upper left outer quadrant of her left breast which appeared as a BIRADS III lesion on mammography. However, biopsy and later surgery was done on clinical grounds. Histopathology and immunohistochemistry diagnosed a PNETtumor. It had recurred 8 years after surgery and required chemotherapy.

Thymoma masquerading as transfusion dependent anemia.

Pure red cell aplasia (PRCA) is a known entity in clinical medicine. Patients are often transfusion dependent for their whole life. Ascertaining its etiology is always a herculean task. We received a similar transfusion-dependent patient, who on evaluation was found to have thymoma as an etiological factor. Thymoma presenting as PRCA is seen in 2%-5% patients and evaluating PRCA for thymoma is seen in 5%-13% patient. As per the WHO histopathological classification, thymoma has six types and Type A is associated with PRCA and Type B is associated with myasthenia gravis. This correlation was not seen in our patient, who had Type B thymoma. Surgical resection of thymus improves 30% of PRCA and rest needs immunosuppression. Our patient was not the surgical candidate, and hence he was put on chemotherapy.

Docetaxel induced Lyell's syndrome: a rare life threatening cause of dermatitis medicamentosas.

Lyell's syndrome or toxic epidermal necrolysis (TEN) is a life threatening complication mostly caused by medications, characterized by desquamative lesions of the skin and mucous membranes with 30 percent or more epidermal involvement along with mucus membrane. We report a rare case of toxic epidermal necrolysis following administration of docetaxel, a semi-synthetic taxane. A female diagnosed as having metastatic breast carcinoma received chemotherapy in form of docetaxel after being exposed to adjuvant chemotherapy, developed severe involvement of skin and mucus membrane. Diagnosis of TEN was made and she was managed with steroids, antibiotics, intravenous fluids and antiseptic dressings. Common toxicities reported with this drug include myelosuppression, alopecia, nail damage, erythema multiforme major and neuropathy. We believe this is the first case report of Lyell's syndrome following docetaxel. Main aim of this case is to make physicians aware of the severe skin reactions with docetaxel, measures to avoid them, early recognition and prompt treatment.

Primitive neuroectodermal tumour of pancreas; second case from Asia.

Primitive neuroectodermal tumours (PNETs) are malignant tumours composed of small round cells of neuroectodermal origin that affect soft tissue and bone. PNETs originating in the pancreas are extremely rare; previous to this report, only 14 cases were reported worldwide, making this case the fifteenth in the world and the second in Asia. We present the case of a painful pancreatic lump diagnosed as PNET of the pancreas after a thorough workup. The diagnosis of PNET is made according to the overall clinical picture, imaging, histopathology, cytogenetics, and immunohistochemistry, as in the case we present. It is essential to differentiate primary pancreatic PNET from a secondary involvement. A review of all of the cases diagnosed worldwide thus far is also provided.

Primary CNS lymphoma in immunocompetent: a review of literature and our experience from Kashmir.

AIM: To study the clinicopathological aspects of primary CNS lymphoma in immunocompetent patients. MATERIAL AND METHODS: Sixteen patients with primary CNS lymphoma were analyzed for their clinico-pathological characteristics and followed-up for the treatment and subsequent management in Neurosurgery, and Medical and Radiation Oncology. RESULTS: The fronto-parietal region was the commonest location of CNS lymphoma; four cases of cerebellar lymphoma were seen. Our patients were relatively young with a mean age of 48 years and an age range of 35-60 years. Females outnumbered males with a ratio of 2.7:1. The commonest presentation was focal neurological-deficits and features of raised intracranial pressure. All the patients histologically had diffuse large B-cell lymphoma. Radiologically, most presented as disc-enhancing lesions. Two patients had multiple lesions. Most of the patients (10) died within a mean of 4.4 months (range 2 weeks-16 months). CONCLUSION: Primary CNS lymphoma is seen in immunocompetent patients as well. Relapse is common after treatment and the overall prognosis is unfavorable.

Melorheostosis with renal arterio-venous malformation: A case report with review of literature.

Melorheostosis, also known as Leri's disease and flowing periosteal hyperostosis, is a rare cause of pain and stiffness in a limb. The appearance is of "candle greasing" down one side of one or several bones of the body. We describe a case referred to tertiary care center with suspicion of renal cell carcinoma with diffuse bone metastasis. After reassessment, the patient was diagnosed melorheostosis with renal AV malformation. He was reassured about the benign nature of the disease and is asymptomatic.