Familial adenomatous polyposis (FAP) is a rare hereditary syndrome characterized by multiple colorectal polyps and early development of colorectal cancer. Although FAP uniformly involves the large bowel, it may also produce lesions in the stomach and upper intestinal tract. Fundic gland polyps are the most common gastric lesion in FAP. In the general population, these polyps are considered benign and have no malignant potential. However, in FAP patients, fundic gland polyps have been occasionally recognized as precursor lesions from which invasive cancer may develop. Herein, we present a case of gastric adenocarcinoma arising from fundic gland polyps in an FAP patient. We also review reported cases of gastric cancer in FAP and FAP variant patients in an effort to better understand the pathology, clinical course, and optimal screening and treatment strategies for this disease manifestation.
Background Epidermal growth factor receptor (EGFR) overexpression (EGFR-H) is implicated in thyroid carcinoma disease progression, but the clinicopathologic significance of EGFR-H in tumors that harbor EGFR and/or BRAF(V600E) mutations is unknown. Methods Tissue microarrays from 81 patients who underwent thyroidectomies for carcinoma from 2002-2011 were scored for EGFR expression using immunohistochemistry (IHC). Somatic mutations in EGFR exons 19 and 21 and BRAF were analyzed. Correlations between EGFR IHC, EGFR, and BRAF(V600E) mutations and clinicopathologic features were assessed. Results EGFR-H was detected in 39.5% of carcinomas (n=32) from patients with papillary (PTC, 46.2%, n=18), follicular (29.6%, n=8), and anaplastic (ATC, 100.0%, n=6), but not medullary (0.0%, n=9) thyroid carcinoma. BRAF(V600E) mutations were identified in 22.2% of carcinomas (n=18, 15 PTCs and 3 ATCs). No somatic EGFR mutations were detected in any subtype. On PTC univariate analysis, EGFR-H correlated with increasing stage, extrathyroidal extension (ETE), tumor capsule invasion (TCI), adverse pathologic features (APF: any demonstration of ETE, TCI, lymph-vascular invasion, lymph node metastases, and/or distant metastases), and BRAF(V600E) mutations. On multivariate analysis, EGFR-H correlated with BRAF(V600E) mutations. In BRAF wild-type (BRAF-WT) PTCs, the correlation between EGFR-H and APF approached statistical significance (p=0.065). Conclusions EGFR-H may be an important biomarker for aggressive PTCs, particularly in BRAF-WT PTCs. Despite EGFR-H in PTC, FTC, and ATC by immunohistochemistry, somatic EGFR mutations are absent. Therefore, future investigations of EGFR should consider histologic and immunohistochemical methods in addition to molecular profiling of thyroid carcinomas. This multimodality approach is particularly important for future clinical trials testing anti-EGFR therapy.
Significant histologic similarities among results were not seen; however, certain trends were discovered. Degenerative changes were appreciated in most specimens. Definite histologic findings of neuroma recur, but difficulty in consistent reproducibility may be related to factors such as age, sex, and comorbidities.
Osteosarcoma, a primary malignant tumor of the long bones, frequently metastasizes to the lungs. We report an unusual case of osteosarcoma metastatic to the right adrenal gland in a 37-yr-old male who presented 8 yr after remission with an adrenal mass. A preoperative diagnosis was made by fine-needle aspiration (FNA) biopsy. FNA biopsy revealed pleomorphic oval cells with prominent nucleoli, spindle cells, and giant tumor cells. Diagnostic osteoid was readily seen on smears and was also detected by polarization of cell-block section. Immunocytochemical stains revealed positivity of tumor cells for vimentin and osteonectin. Cytokeratin stains were negative. The cytologic diagnosis of metastatic Osteosarcoma was made, which was later confirmed upon resection of tumor by histology. Although the role of FNA in the diagnosis of primary bone tumors, including osteogenic sarcoma (OGS), remains controversial, this case, however, demonstrates the value of FNA biopsy combined with immunocytochemistry performed on the aspirated material in diagnosing osteosarcoma from an unusual location such as the adrenal gland.
Background. The aim of the study was to investigate the relationship between neuroradiological and clinical diagnosis in patients presenting with cognitive impairment, and also the relationship between the neuroradiological abnormalities and cognitive function as assessed by the Mini‐Mental State Examination (MMSE) score. Methods. One hundred and four elderly subjects (65 years and over) with cognitive impairment, referred to secondary hospital services and who had brain magnetic resonance imaging (MRI) scans as part of routine clinical investigations, were studied by review of their MRI scans using a standardized procedure and by examination of the case notes. Results. In patients with a clinical diagnosis of senile dementia Alzheimer‐type (SDAT), the diagnosis was reviewed in 11.1%. In patients with vascular dementia, the diagnosis was reviewed in 62.5%. In patients without a firm clinical diagnosis, radiological features compatible with SDAT were seen in 44.4% and with vascular dementia in 27.0%. Only 2/104 patients showed a significant focal lesion on MRI. Of the variables studied (age, sex, degree of hippocampal atrophy, extent of T2 hyper‐intensities, and enlargement of the sulcal and ventricular cerebrospinal fluid (CSF) spaces) only hippocampal atrophy predicted the MMSE score ( p < 0.002). Conclusion. MRI brain scanning has an important role in aiding and refining the clinical diagnosis of cognitive impairment/dementia in the elderly. Copyright © 2000 John Wiley & Sons, Ltd.
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