Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review.

Endolymphatic sac tumors (ELSTs) are very rare and locally aggressive low-grade neoplasm of endolymphatic system origin, which are associated with von Hippel-Lindau (VHL) disease. Evidence suggests that the specific VHL alteration influences the phenotype. Because of the rarity of ELSTs, only a small number of cases have been subjected to molecular genetic analysis. The correlation between ELSTs and the genotype of VHL remains unclear. Herein, we reported a case of ELST with VHL gene analysis who presented with a family history of VHL disease. The radiologic, histologic, and immunohistochemical features of the tumor were typical of ELST. Using the polymerase chain reaction-single-strand conformation polymorphism sequencing techniques, a germline mutation was identified as IVS1 + 1G→A at position 553 + 1. The mutation found in this case has not been previously reported in ELSTs. It is hoped that the study would contribute to a better understanding of ELSTs and the correlation between ELSTs and the genotype of VHL.

[Analysis of 12 206 cases of external pathology consultation].

OBJECTIVE: To study the concordance rate of external pathology consultation referred by hospitals of various scales and to evaluate the value of such practice. METHODS: A total of 12 206 external pathology consultation cases referred by outside institutions were encountered during a 5-year period. The final pathologic diagnoses in 3289 cases were compared with the original interpretations. Each case was reviewed by at least two experienced pathologists. Immunohistochemical study was carried in selected examples. The pathologic findings were categorized as follows: (1) no diagnostic discrepancy, (2) minor diagnostic discrepancy and (3) major diagnostic discrepancy. RESULTS: Amongst the 12 206 cases studied, 7198 cases (59.0%) were sampled from the digestive tract, hematolymphoid system, soft tissue or breast. Seven thousand eight hundred and sixty-five cases (64.4%) were referred by small and medium-sized hospitals, while only 948 cases (7.8%) were referred by large hospitals (ranked IIIA). The diagnoses in 1842 cases (15.1%) were confirmed upon examination of the original paraffin sections, while the diagnoses in 2569 cases (21.1%) were made with cutting of additional sections from the paraffin blocks. On the other hand, the diagnoses in 7795 cases (63.8%) were arrived with the application of ancillary studies, including histochemistry and immunohistochemistry. Amongst the 3289 cases reviewed, diagnostic agreement was noted in 582 cases (17.7%), while major diagnostic discrepancy was observed in 113 cases (3.4%), including a change in diagnosis from "benign" to "malignant" in 31 cases (0.9%) and from "malignant" to "benign" in 38 cases (1.1%). The pathologic classification of the original diagnoses was modified in 44 cases (1.3%). CONCLUSIONS: External pathology consultation is useful for patient management in small and medium-sized hospitals, especially in resolving difficult and controversial pathologic diagnoses. Application of ancillary techniques, including immunohistochemistry, further helps to clear up the potential diagnostic dilemma.

[BRG1 expression in prostate carcinoma by application of tissue microarray].

OBJECTIVE: To investigate the expression of gene BRG1 in prostatic intraepithelial neoplasia and adenocarcinoma, and the relationship between gene BRG1 expression and the clinicopathological features of prostate carcinoma. METHODS: Gene BRG1 expression was evaluated in 37 cases of human prostate carcinoma, 13 human prostatic intraepithelial neoplasia (PIN) and 14 human benign prostatic hyperplasia (BPH) by using immunohistochemistry (EnVision method) and tissue microarray. RESULTS: The positive rates of BRG1 protein were 81.08% (30/37), 38.46% (5/13) and 14.28% (2/14) in prostate carcinoma, PIN and BPH, respectively, significantly higher in the first group than in the latter two (P < 0.05). There was no statistically significant difference in BRG1 gene expression either between PIN and BPH (P > 0.05) or between the groups of the moderate differentiation (the Gleason histologic grading: 5-7) and the lower one (the Gleason histologic grading: 8-10) (P > 0.05). CONCLUSION: BRG1 may play an important role in the development of prostate carcinoma. Tissue microarray technology, with the advantages of high throughput, conciseness, rapidity, high efficiency, low cost, and nice reproducibility, has significant practical value and broad application prospects in pathology.

[A clinicopathologic study of dysembryoplstic neuroepithelial tumor].

UNLABELLED: OBJECTIVE To study the clinicopathologic features, radiologic findings, treatment modalities and prognosis of dysembryoplastic neuroepithelial tumor (DNT). METHODS: The clinical features, histopathologic findings, immunohistochemistry and electron microscopy of 18 cases of DNT were analyzed. Results Among the 18 cases studied, 14 were males and 4 females. The age of these patients ranged from 3 to 46 (mean age = 22. 8 years). Partial seizure was the main presenting symptom in all patients. The history of epilepsy could be as long as 17 years. On magnetic resonance imaging (MRI) study, the tumor was hypodense on T1 and hyperdense on T2. There was neither edema nor mass effect. All but 2 cases were supratentorial and intracortical in location. Ten cases were treated by complete surgical excision and the remaining 8 tumors were partially excised. In the 14 patients with follow-up data available, 13 survived for 1.4 to 11 years after the operation (with more than 10 years survival observed in 2 patients). The average survival period was 5.5 years. None of the cases showed tumor recurrence after operation. Histologically, all tumors demonstrated a multinodular architecture and were intracortical in location, sometimes with extension into the white matter. The characteristic "glioneuronal constituent" was an essential feature for making the diagnosis of DNT. The tumor was formed by an admixture of oligodendrocyte-like cells, mature neurons and astrocytes, with obvious microcystic changes. These neurons were often dispersed singly in the mucoid matrix. In most cases, the foci of cortical dysplasia were found in adjacent areas. Immunohistochemical study demonstrated positivity for synaptophysin, neurofilament and S-100 protein in the neurons and some oligodendrocyte-like cells. The staining of glial fibrillary acidic protein in the oligodendrocyte-like cells was negative. Electron microscopy showed early neuronal, astrocytic and oligodendroglial differentiation of the oligodendrocyte-like cells. CONCLUSIONS: DNT is a benign tumor (corresponding to WHO grade I) that can be cured by surgical excision, despite sometimes incomplete tumor removal. A correct diagnosis of this entity requires thorough understanding of the clinical, radiologic, histologic and immunohistochemical features.

[Clinicopathological study of primary meningeal hemangiopericytoma].

BACKGROUND AND OBJECTIVES: Meningeal hemangiopericytoma is an uncommon tumor. This study was designed to investigate the clinicopathological and biology behavior of primary meningeal hemangiopericytoma. METHODS: Clinical data, combined with histopathology and immunohistochemistry of 20 cases of meningeal hemangiopericytoma were reviewed, in which 4 specimens were examined with electron microscope. RESULTS: The average age of patients with primary meningeal hemangiopericytoma was 42.4 year-old (21-69 years). The ratio of male to female was 1.2: 1. Most of the patients went to hospital for the symptoms of central nervous system such as headache. The tumor could occur on any locus of the cranial or spinal dura. Grossly, many of the tumors had capsule, whose testure were tenacious, and part of them looks like fish meat. Histopathologically, the small vascular spaces in the tumor were rich, the typical antler-liked vessel could be found, the short-spindle tumor cells were around the vessel, and distributed by radiation-shape. The tumor cells were pleomorphic and atypical, and could be found mitotic activity. Staining of argyrophilic fiber: the argyrophilic fiber surrounded single tumor cell, and distributed by radiation-shape around vessel. Immunohistochemistry showed negative for S-100 protein, F VIII, EMA, GFAP and CD34, while Vim was positive. Electron microscopically, the rich bundles of 10nm long intermediate filaments could be found in tumor cells. The exobasallamina, of cells were evidenced, and distributed around single cell. Follow-up, 8 of 17 cases were relapsed (47.1%). CONCLUSION: Meningeal hemangiopericytoma is a low-malignant tumor original from meningeal mesenchymal tissue. The features of histopathology, immunphenotype and ultrastructure are similar to hemangiopericytoma of the soft tissue.