Middle-ear involvement in type I Gaucher's disease - a unique case.

OBJECTIVE: Gaucher's disease is a rare autosomal recessive lysosomal storage disease. We describe a unique case of middle-ear involvement presenting with hearing loss. CASE REPORT: A five-year-old boy with known Gaucher's disease presented with bilateral hearing impairment and conductive hearing loss on pure tone audiometry with flat tympanometry traces. INTERVENTION: Exploratory Tympanomastoidectomy revealed inflammatory material filling the mastoid and the middle ear. Histological analysis confirmed Gaucher cell infiltrates. CONCLUSION: This is the first detailed report in the english language literature of Gaucher's disease affecting the middle ear and the mastoid. We discuss the disease process and suggest future management options.

Primary malignant fibrous histiocytoma of the lung.

BACKGROUND: Malignant fibrous histiocytoma (MFH) is the most common soft tissue sarcoma in adults. Its appearance as a primary lung tumor is extremely rare. The cell origin of MFH remains controversial. The treatment of choice for MFH is surgical resection, while the role of chemo- and radiotherapy remains unclear. METHODS: A retrospective analysis of 5 patients operated on for primary MFH in the Department of Thoracic Surgery of the Medical University in Gdansk between 1990 and 2000 was performed. RESULTS: Out of approximately 2000 patients operated on for primary malignant lung tumors, five (0.25 %) had MFH. The mean age of the 4 men and 1 woman was 62 years. In all cases radical resection was performed without adjuvant chemo- or radiotherapy. Four patients died within 2 - 7 months after the operation, three of them from distant metastases. The follow-up of one patient is not available. One patient is alive 11 years after the operation. CONCLUSION: Although surgical resection of MFH is the treatment of choice in MFH, the results are unsatisfactory.

Blue-dye intraoperative sentinel lymph node mapping in early non-small cell lung cancer.

AIMS: The blue-dye staining method of sentinel lymph node identification in lung cancer patients has been scarcely reported. The study was designed to assess the sensitivity, accuracy and negative predictive value (NPV) of intraoperative sentinel lymph node mapping in patients with non-small cell lung cancer by means of staining with colloid or water solution of blue dye. PATIENTS AND METHODS: One hundred and ten patients with clinically confirmed NO non-small cell lung cancer were enrolled into prospective study of intraoperative sentinel node identification. Four quadrants of the peritumoral tissue were injected with 4 ml of blue dye. After complete lymphadenectomy, all resected lymph nodes were examined with conventional hematoxylin-eosine staining. All negative sentinel nodes were searched for metastatic deposits with both serial sections and immunohistochemistry for cytokeratines. RESULTS: The blue-dye technique was characterized by unacceptably low sentinel node identification rate (IR) and low sensitivity (27% and 67% respectively). No significant differences were found in either the sensitivity or NPV among the colloid or water solutions of the blue dye applied. Although patent blue (colloid) was superior to water solution of methylene blue in identifying sentinel lymph node (identification rate 36% and 22% respectively) the sensitivity and NPV were lower (63% and 80% for patent blue and 75% and 92% for methylene blue respectively). CONCLUSION: The blue-dye staining method of sentinel node identification in non-small cell lung cancer patients is inadequate and should not be recommended for clinical use.

Clinical significance of apoptotic index in non-small cell lung cancer: correlation with p53, mdm2, pRb and p21WAF1/CIP1 protein expression.

PURPOSE: The aim of this study was to assess the prognostic relevance of apoptotic index (AI), considered alone or together with expression of several proteins controlling G1 check point (p53, mdm2, pRb and p21WAF1/CIP1) in non-small cell lung cancer (NSCLC) patients. METHODS: Study group included 50 NSCLC patients who underwent curative pulmonary resection. Apoptosis was detected with the use of TUNEL technique and AI was defined as the number of apoptotic cells per 1,000 tumor cells. The expression of p53, mdm2, pRb and p21WAF1/CIP1 was assessed immunohistochemically. RESULTS: The mean and median AI calculated for all 50 patients was 14 and 9, respectively. Patients with lower (<14) and higher (> or =14) AI constituted 35 (70%) and 15 (30%) of cases, respectively. AI was not correlated with patient clinical characteristics, and expression of p53, pRb and p21WAF1/CIP1 . However, lower AI was correlated with over-expression of mdm2 protein (P=0.04). Median survival for patients with lower and higher AI was 43 months and 22 months, respectively, and 5-year survival probability-60 and 25%, respectively (P=0.03). In multivariate analysis, the only variable associated with shortened survival was AI (P=0.03, HR=2.9, 95% CI 1.95-3.86). CONCLUSIONS: These results suggest that AI correlates with mdm2 protein expression and influences survival in NSCLC.

Amplification of c-myc gene and overexpression of c-Myc protein in breast cancer and adjacent non-neoplastic tissue.

BACKGROUND: Deregulated c-Myc expression and alterations of c-myc oncogene have been reported to play an important role in breast cancer tumorigenesis. We examined the relationship between c-Myc protein level, amplification of c-myc oncogene and commonly used clinical and pathologic factors. METHODS: The studies were conducted on 94 ductal and lobular cancers. Amplification of c-Myc was assessed by the semiquantitative multiplex PCR assay. The amount of c-Myc protein was estimated by the densitometry analysis of Western blots. RESULTS: Amplification of c-Myc was found in 21% of examined cancers. There was no association of c-myc amplification with established risk factors. Overexpression of c-Myc protein without c-myc amplification was associated with negative status of axillary lymph node. The size of lobular carcinoma displaying overexpression of c-Myc and the normal copy number of c-myc gene was significantly smaller than the size of tumor with elevated c-Myc and amplification of c-myc gene (p < 0.01). Within tumors displaying overexpression of c-Myc protein and c-myc gene amplification the size of ductal carcinoma was smaller than the size of lobular carcinoma (p < 0.007). CONCLUSION: Data presented in this study suggest that alterations of c-myc gene and c-Myc protein level might be related to breast cancer progression. The prognostic utility of elevated level of c-Myc protein associated with normal status of c-myc gene for patients with lobular carcinoma requires further studies.

Proliferative activity of normal and neoplastic colonic mucosa in population groups with high and low risk for colorectal carcinoma.

Europeans have a high incidence of colorectal cancer in comparison to Africans. Lack of detectable sequence adenoma-colorectal carcinoma in Africans may suggest the development of adenocarcinoma is de novo. The aim of this study is to assess colonic mucosal proliferative activity in various pathological conditions of diverse population groups. Materials included routinely processed tissue specimens from consecutively resected well- and moderately differentiated colorectal adenocarcinomas from 32 rural Africans (South Africa) and 27 urban Europeans (Poland) and from apparently normal rectal mucous membrane from the age and sex matched each population group (28 and 25 samples respectively). In addition, 32 resected adenomatous polyps were examined in Europeans as well. The MIB 1 monoclonal antibody was used to assay the expression of Ki67 antigen in routinely processed tissue specimens. Proliferative activity in colonic carcinomas was scored by the percentage of positively stained cells. Labelling indices were estimated in 5 crypt compartments in apparently normal colonic mucosa adjacent and distant to the tumour, in mucosal samples of controls from both population groups and in adenomatous polyps from Europeans. The mean age of African patients with adenocarcinoma was markedly lower than in European counterparts (48.6 yrs vs. 66.4 yrs). The overall proliferative activity in cancerous tumours of Africans was higher than in Europeans. The labelling indices were lower in all compartments in normal colonic mucosa in Africans. Overall increase of the labelling indices in adjacent and distant to the tumour mucosa noted when compared to the mucosa of healthy individuals. No such differences were detected between indices in the mucosa adjacent and the mucosa distant to the tumour. Proliferative activity in the mucosa adjacent to adenoma was also higher than in normal mucosa from healthy individuals. Adenomas with marked dysplasia showed higher and diffuse proliferative activity, when regular adenomas shown superficial labelling only. Relatively young age, lack of detectable evidence of adenoma-carcinoma sequence and low proliferative activity in all compartments of mucosa from healthy individuals indicate different etiopathogenesis of colorectal carcinoma in rural Africans.