H3 K27M-mutant diffuse midline glioma with osseous metastases: A case report and a literature review.

INTRODUCTION: Diffuse midline glioma (DMG) is a primary tumor of the central nervous system (CNS) with aggressive nature. It arises from midline structures in the brain and spinal cord. Recently, the presence of H3 K27M mutation is described in most cases. Extra-cranial osseous metastasis is rarely encountered. CASE PRESENTATION: We present an interesting case of DMG with bone metastasis at presentation in a 19-year-old male. In addition, a literature review on similar cases is presented. DISCUSSION: DMG mostly affects children and young adults. It has a broad spectrum of phenotypes, shows diffuse growth pattern, midline location, and is frequently H3 K27M-mutant. Radiotherapy remains the mainstay of treatment that might improve overall survival. Metastasis outside the CNS remains a rare occurrence, especially at presentation, and constitute a diagnostic challenge. CONCLUSION: Bone is one of the most common sites for metastasis of primary CNS tumors, which would severely impact prognosis. Oncologists, radiologists, and pathologists should keep an index of suspicion when encountering bone metastasis in the presence of a CNS midline tumor, so that timely diagnosis and management can be rendered.

Cutaneous cysts of the head and neck.

PURPOSE: A retrospective study on the features of cutaneous cysts of the head and neck as seen in a North Jordanian population. PATIENTS AND METHODS: The records of the Department of Pathology at Jordan University of Science and Technology were reviewed for patients with cutaneous cysts of the head and neck during the 12-year period extending between 1991 and 2002. Applicable records were retrieved, reviewed, and analyzed. Primary analysis outcome measures included patient age, gender, location of the cyst, type, clinical presentation, and treatment. The records of 488 patients were available for analysis. RESULTS: Epidermoid cyst was the most frequent lesion (49%) followed by pilar cysts (27%), and dermoid cysts (22%). The site affected most frequently was the scalp (34%), predominantly with pilar cysts (96%). Epidermoid cyst was the most frequent lesion in the neck (68%), cheeks (77%), periauricular area (70%), and the nasal area (55%). Dermoid cyst was the most frequent lesion in the periorbital area (52%). Females represented 51% of the patients and males accounted for 49%. The peak of age distribution for patients with dermoid cysts was at the first decade, and both of epidermoid and pilar cysts peaked at the third decade. Infection presented in 2.5% of cases. All cysts were enucleated surgically. CONCLUSION: Maxillofacial surgeons often encounter cutaneous cysts of the head and neck, and they must be familiar with the clinicopathologic characteristics of these lesions.

Differing DNA methylation patterns and gene mutation frequencies in colorectal carcinomas from Middle Eastern countries.

PURPOSE: The epidemiology of colorectal carcinoma is well known to differ among countries but the molecular characteristics are usually assumed to be similar. International differences in molecular pathology have not been studied extensively but have implications for the management of patients in different countries and of immigrant patients. EXPERIMENTAL DESIGN: We evaluated the CpG island methylator phenotype pathway characterized by concordant methylation of gene promoters that often silences transcription of the genes, the microsatellite instability pathway, and K-ras and p53 gene status in 247 colorectal carcinomas from the three selected Middle Eastern countries of Egypt, Jordan, and Turkey. RESULTS: Colorectal carcinoma from Egypt had the lowest frequencies of methylation. In multinomial logistic regression analysis, Jordanian colorectal carcinoma more frequently had methylation involving the p16 tumor suppressor gene (odds ratio, 3.5; 95% confidence interval, 1.2-10.6; P = 0.023) and MINT31 locus (odds ratio, 2.3; 95% confidence interval, 1.0-5.1; P = 0.041). The K-ras proto-oncogene was more frequently mutated in colorectal carcinoma from Turkey (odds ratio, 2.9; 95% confidence interval, 1.2-6.7; P = 0.016), but p53 overexpression was more common in both Jordanian and Turkish colorectal carcinoma than in Egyptian cases (odds ratio, 2.5; 95% confidence interval, 1.2-5.5; P = 0.019; and odds ratio, 3.6; 95% confidence interval, 1.8-7.1; P = 0.0003, respectively). The findings in Turkish colorectal carcinoma were most similar to those reported for Western cases. CONCLUSIONS: Colorectal carcinoma from Middle Eastern countries have differing gene methylation patterns and mutation frequencies that indicate dissimilar molecular pathogenesis, probably reflecting different environmental exposures. These molecular differences could affect prevention strategies, therapeutic efficacy, and transferability of clinical trial results.