The incidence of colorectal cancer (CRC) is increasing rapidly in Asian countries during the past few decades, but no comprehensive analysis has been done to find out the exact cause of this disease. In this study, we investigated the frequencies of mutations and expression pattern of K-ras, APC (adenomatosis polyposis coli) and p53 in tumor, adjoining and distant normal mucosa and to correlate these alterations with patients clinicopathological parameters as well as with the survival. Polymerase chain reaction (PCR)-restriction digestion was used to detect mutations in K-ras and PCR-SSCP (Single Strand Conformation Polymorphism) followed by DNA sequencing was used to detect mutations in APC and p53 genes. Immunohistochemistry was used to detect the expression pattern of K-ras, APC and p53 proteins. The frequencies of mutations of K-ras, APC and p53 in 30 tumor tissues samples were 26.7 %, 46.7 % and 20 %, respectively. Only 3.3 % of tumors contained mutations in all the three genes. The most common combination of mutation was APC and p53 whereas mutation in both p53 and K-ras were extremely rare. There was no association between the mutations and expression pattern of K-ras, APC and p53 (p>0.05). In Indians, the frequency of alterations of K-ras and APC is similar as in Westerns, whereas the frequency of p53 mutation is slightly lower. The lack of multiple mutations in tumor specimens suggests that these genetic alterations might have independent influences on CRC development and there could be multiple alternative genetic pathways to CRC in our present study cohort.
Chest radiography (CXR) was abnormal in 65% patients. While the findings were non-conclusive for esophageal tuberculosis, characteristic lesions of tuberculosis in lungs or spine were suggestive of tuberculous etiology. In 15 patients, CT of the chest confirmed the corresponding CXR findings and also showed additional findings of mediastinal lymphadenopathy when CXR was normal. Fourteen patients showed mediastinal lymphadenopathy on CT of the chest. In all these patients, more than one group of lymph nodes was involved. The characteristic hypodense center of lymph nodes suggestive of tuberculosis was seen in 12 patients. Radiological abnormalities seen in barium swallow examination were extrinsic compression, traction diverticula, strictures, sinus/fistulous tracts, kinking and pseudotumor mass of esophagus in decreasing order of frequency. The middle third of the esophagus was found to be the most frequent site of involvement.
We here report a case of celiac disease and Budd Chiari syndrome. This 19-year-old boy was diagnosed to have portal hypertension in another hospital when he had developed variceal bleeding. In our hospital, he was found to have occlusion of all three hepatic veins as the cause of portal hypertension. On a routine endoscopy, he was found to have scalloping of duodenal folds. Suspecting celiac disease, he was investigated further. He did have positive serology for celiac disease as well as suggestive histology. He was found to be deficient for protein C and protein S. He was managed conservatively and put on gluten-free diet, with which he showed clinical improvement. A review of literature showed that only 14 previous cases of this combination were recorded and except for one all were from North Africa or southern Europe.
A 55-year-old man had dysphagia of 4-month duration. Endoscopy revealed a large polypoidal pedunculated blackish mass located in the lower thoracic esophagus. A barium esophagogram revealed a lower esophageal mass. Computed tomography revealed a large polypoidal esophageal mass without any evidence of local invasion or distant disease. Endoscopic biopsy established the diagnosis of melanoma. A radical resection of the esophagus with three-field lymph nodal dissection was undertaken. The patient made an uneventful recovery. Histopathology confirmed the diagnosis of melanoma and positive lymph nodes. Adjuvant chemotherapy was given. He succumbed to systemic recurrence after 69 months.
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