Errol Berman

Ki-ras gene mutations are invariably present in low-grade mucinous tumors of the vermiform appendix

Abstract Objective. Low-grade mucinous tumors of the appendix appear to have a simple histological structure. Paradoxically, reports have suggested a greater frequency of Ki-ras gene mutation in these lesions than in more complex lesions such as benign colonic adenomas and carcinomas. We assessed several molecular genetic changes, including Ki-ras gene mutations, in a large series of low-grade mucinous tumors of the appendix. Material and methods. We retrospectively ascertained low-grade mucinous tumors of the appendix from computerized pathology records. Extracted DNA was analyzed for APC and DCC gene loss of heterozygosity, microsatellite instability and for the presence of Ki-ras gene mutation using standard molecular techniques. Controls consisted of normal appendices, other appendiceal neoplasms, and ovarian mucinous cystadenomas. Results. A total of 31 low-grade appendiceal mucinous tumors were identified. All were microsatellite stable and none demonstrated loss of heterozygosity for the APC or DCC genes. By contrast, all 31 lesions contained a Ki-ras gene mutation. Conclusions. The presence of a Ki-ras gene mutation in all lesions, with no other molecular changes identified, strongly suggests a possible etiological role of the Ki-ras mutation in the development of this particular lesion of the appendix. Based on other work regarding intestinal bacteria, we hypothesize a relationship between chronic inflammation of the appendix from bacterial overgrowth and Ki-ras gene mutation.

Molecular Genetic Changes Associated With Colorectal Carcinogenesis Are Not Prognostic for Tumor Regression Following Preoperative Chemoradiation of Rectal Carcinoma

PURPOSE Preoperative chemotherapy and radiation has become the standard of care for many patients with rectal cancer. The therapy may have toxicity and delays definitive surgery. It would therefore be desirable to identify those cancers that will not regress with preoperative therapy. We assessed a series of rectal cancers for the molecular changes of loss of heterozygosity of the APC and DCC genes, K-ras mutations, and microsatellite instability, changes that have clearly been associated with rectal carcinogenesis. METHODS AND MATERIALS Diagnostic colonoscopic biopsies from 53 patients who received preoperative chemotherapy and radiation were assayed using polymerase chain reaction techniques followed by single-stranded conformation polymorphism and DNA sequencing. Regression of the primary tumor was evaluated using the surgically removed specimen. RESULTS Twenty-three lesions (45%) were found to have a high degree of regression. None of the molecular changes were useful as indicators of regression. CONCLUSIONS Recognized molecular changes critical for rectal carcinogenesis including APC and DCC loss of heterozygosity, K-ras mutations, and microsatellite instability are not useful as indicators of tumor regression following chemoradiation for rectal carcinoma.

Bone lesions in hairy cell leukemia a case report and response of bone pains to steroids

An unusual case of hairy cell leukemia is reported. The patient experienced severe bone pains at the sites of the bone lesions caused by infiltration by hairy cells documented histologically. The pains were resistant to various analgesics. Administration of corticosteroids resulted in prompt, full, and sustained response despite the persistence of bone lesions radiographically.

Simultaneous occurrence of renal cell adenocarcinoma and urothelial carcinoma of the renal pelvis in the same kidney diagnosed by preoperative angiography.

An unusual case of dissimilar histologic neoplasms in the same kidney is presented. An 86‐year‐old man had renal cell carcinoma and urothelial carcinoma in the same kidney eight years after therapy for urinary bladder carcinoma. These two different types of neoplasms were identified preoperatively by angiography. A peculiar hamartoma was also found in the same kidney.

Rapid progression of littoral cell angioma of the spleen in a man with multiple infections

Littoral cell angioma is an uncommon primary vascular neoplasm of the spleen. It frequently follows a benign course, but cases with aggressive behavior have been described. We present a case of this rare disease highlighting radiological examinations showing a rapid increase in the size of the spleen as well as an increase in the number and size of existing nodules. We also discuss the relationship of this disorder to chronic infections and its possible association with Epstein Barr virus.

Ehlers-Danlos syndrome type IV with Charcot Marie tooth disease: an unusual combination of diseases.

Ehlers-Danlos Syndrome (EDS) type IV is a rare genetic disorder of connective tissue. Most patients with EDS type IV are frequently unaware of this disorder until the catastrophic rupture of an artery or bowel occurs. We are reporting an association between this and another uncommon autosomal dominant disorder, Charcot Marie Tooth disease. The neurologic problem led to painful foot deformities, requiring surgery, which was complicated by difficulty controlling bleeding in the friable tissues. Other reported associations of heritable disorders of connective tissue and neuropathies are described.