Clinicopathologic study of von Hippel-Lindau syndrome-related and sporadic hemangioblastomas of central nervous system / 中华病理学杂志

<p><b>OBJECTIVE</b>To study clinicopathologic features, diagnosis, treatment and prognosis of von Hippel-Lindau (VHL) syndrome-related and sporadic hemangioblastomas of the central nervous system (CNS-HB).</p><p><b>METHODS</b>Histopathological, ultrastructural, immunohistochemical (EnVision method) and clinical features of 21 VHL syndrome and 63 sporadic CNS-HB cases were studied with correlation of the available follow-up information.</p><p><b>RESULTS</b>Twenty-one VHL patients accompanied with a total of 87 CNS-HBs, including one patient of developing 12 HBs within 13 years. There were 10 patients presenting other lesions related to VHL, including 6 retinal HBs, 4 pancreatic tumors (endocrine tumor and microcystic cystadenoma), 1 clear renal cell carcinoma, 4 renal cysts and 1 endolymphatic sac tumor. One patient developed 5 different tumors related to VHL within a period of 4 years. In the 63 cases of sporadic CNS-HB (34 male and 29 female), the mean age was 43.0 years. Among the 18 VHL syndrome patients with available follow-up information, 14 were still alive and within them, 4 became disabled and 11 had developed new lesions. The other 4 patients died. Among the 42 patients of sporadic HB with follow-up information, 39 were alive including 3 disabled cases, and the other 3 died. Histologically, the tumors showed large and vacuolated stromal cells. Some tumors showed atypical nuclei. Involvement of the brain tissue was seen in 32 cases, among which, 21 patients with available follow-up information were learnt to be alive. Tumor cells of HB stained positive for vimentin, EGFR, Inhibin alpha and D2-40, but negative for CD34 and CD68. In 3 cases of HB, some stromal cells were positive for GFAP. All cases showed a low expression for Ki-67, except 2 cases with 2% and 1 case with 5% Ki-67 indices.</p><p><b>CONCLUSIONS</b>VHL syndrome is a multisystem disorder with a poor prognosis and a high rate of missed diagnosis. The syndrome is characterized by development of various benign and malignant tumors. The most common tumor is CNS-HB, which occurs predominantly in the cerebellum. Patients with VHL syndrome tend to present at a younger age than patients with sporadic CNS-HBs, and VHL related HB occurs more predominantly in the brain stem and spinal cord. Prognosis of CNS-HB patients is not correlated with the nuclear atypicality, expression for Ki-67 and involvement of the brain tissue. Because new lesions may develop during the patient's lifetime. So that, regular clinical inspection is recommended in order to check up the development of any new lesions.</p>

Clinicopathological study of 5 cases of proximal-type epithelioid sarcoma / 中华病理学杂志

<p><b>OBJECTIVE</b>To investigate the clinicopathological characteristics, diagnosis and differential diagnoses of proximal-type epithelioid sarcoma (PES).</p><p><b>METHODS</b>Five cases of PES were retrieved from pathology files. Clinical, pathologic and immunohistochemical features of the tumors were reviewed.</p><p><b>RESULTS</b>One patient was female and 4 were male. Ages of the patients ranged from 19 to 46 years. The sites of the tumor involvement were vulvar (2 cases), hypogastric zone (1 case), anterosuperior iliac spine (1 case) and buttock (1 case). Clinically, the tumor masses were painless and progressive solitary nodules. Microscopically, the tumor cell growth was infiltrative in nature, nodular in appearance with degenerative and necrotic cells at the central areas. The tumors consisted of relatively uniform epithelioid cells with round or oval nuclei and eosinophilic cytoplasm. Immunohistochemically, the tumor cells were positive for vimentin (5/5), CK (4/5), EMA (4/5), beta-catenin (3/5), CD34 (3/5), and S-100 protein (1/5), but were negative for SMA, MyoD1, Desmin, HMB-45, CK7 and CK20.</p><p><b>CONCLUSION</b>Definitive diagnosis of PES relies on its histopathological characteristics in conjunction with appropriate immunohistochemical findings.</p>

Analysis of 12 206 cases of external pathology consultation / 中华病理学杂志

<p><b>OBJECTIVE</b>To study the concordance rate of external pathology consultation referred by hospitals of various scales and to evaluate the value of such practice.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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%).</p><p><b>CONCLUSIONS</b>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.</p>

Clinicopathologic study of pilocytic astrocytoma / 中华病理学杂志

<p><b>OBJECTIVE</b>To study clinicopathologic features, treatment and prognosis of pilocytic astrocytoma (PA).</p><p><b>METHODS</b>Histopathological, ultrastructural, immunohistochemical (EnVision method) and clinical features of 68 cases of PA were studied by microscopic investigation with correlation of clinical follow-up information when available.</p><p><b>RESULTS</b>Thirty-five male patients and 33 female patients were studied. The patient's age ranged from 3 to 66 years (mean = 20.1 years). The mean time from symptom onset to surgery was 371 days (range, 3 days to 14 years). Cystic degeneration was noted in 41 cases (60.3%), and enhancement of the tumor was noted in 43 cases (87.8%). On postcontrast imaging examination there were 33 cases involving the cerebellum (48.5%). Total tumor excision was performed in 35 patients, subtotal tumor excision was performed in 31 patients, and the procedures of other 2 patients were not clear. Among 51 patients with follow-up information, 44 were alive, 7 had recurrent tumor, and 7 died. The post-operative survival ranged from 2 months to 124 months (mean survival = 48.1 months). Five years and ten years survival rates were 89%, respectively. Tumors with classic histopathology demonstrated biphasic pattern of growth, consisting of compact elongated bipolar astrocytes associated with rosenthal fibers, and less cellular areas of multipolar cells with granular bodies and microcyst. Some cases showed atypia of nuclei, and occasional mitoses. Involvement of subarachnoid space was seen in 17 cases. One case had anaplastic features. All cases showed diffuse positive staining for GFAP and low expression for Ki-67, except 1 anaplastic tumor with 10% Ki-67 indices. Tumors with subarachnoid space involvement showed positive reticular fiber staining and negative EMA staining.</p><p><b>CONCLUSIONS</b>PA is a benign, WHO grade I tumor with favorable prognosis, and does not require radiotherapy after total resection. The tumor can be mistaken as higher-grade astrocytoma when involving the subarachnoid space, and with cytological atypia, leading to unnecessary radiotherapy after surgery. Recurrence rate is increased when only partial resection is achieved. The outcome for patients with brainstem tumor or anaplastic PA is poor.</p>

Clinicopathologic study of pleomorphic xanthoastrocytoma of brain / 中华病理学杂志

<p><b>OBJECTIVE</b>To study the clinicopathologic features, treatment response and prognosis of pleomorphic xanthoastrocytoma (PXA).</p><p><b>METHODS</b>Amongst a total of 6 287 patients with central nervous system tumors encountered in Nanjing General Hospital of PLA during the period from 1980 to 2004, 15 cases of PXA were found. Two additional cases of PXA were also retrieved from the authors' consultation files. The clinicopathologic features of the 17 cases were studied. Follow-up information was available in 10 patients.</p><p><b>RESULTS</b>The age of the patients ranged from 12 to 55 years (mean = 30.8 years). The male-to-female ratio was 6:11. Commonest clinical symptoms included seizures, headaches and dizziness. The tumors in 16 patients were located in the superficial cerebral cortex (94.1%). Seven cases (41.2%) involved the temporal lobe. The size of the tumors varied from 2 to 7 cm (mean = 4.3 cm). Cystic degeneration was noted in 9 cases. For those in-house cases, total tumor excision was performed in 12 patients and subtotal tumor excision was performed in 3 patients. Amongst the 10 patients with follow-up information available, 8 were alive. The post-operative survival ranged from 10 months to more than 13 years (mean survival = 6 years). Classic histopathologic features included an admixture of mononuclear cells, bizarre multinucleated giant cells, spindled cells and lipid-rich vacuolated cells. The tumor cells were associated with abundant lymphocytes and reticulin fibers. They showed little tumor necrosis or mitotic activity. Immunohistochemical study demonstrated diffuse positive staining for glial fibrillary acidic protein, vimentin and S-100 protein. Seventy-seven percent of the cases also showed positive staining for CD34. One case had anaplastic transformation, with increased mitotic activity (mitotic count >or= 5 per 10 high power fields). The tumor cells infiltrated the underlying cerebral cortex with extension into perivascular spaces in 2 cases. Radiologic examination revealed tumor recurrence with diffuse leptomeningeal spread in 1 case.</p><p><b>CONCLUSIONS</b>PXA is low-grade glial tumor, corresponding to WHO grade II. Cases with typical pathologic features and total tumor excision carry favorable prognosis. Local recurrence or anaplastic transformation may occur in rare examples. Histologically, PXA can be mistaken as WHO grade IV giant cell glioblastoma, as both entities possess tumor giant cells. PXA however harbors lipiodized astrocytes and lacks coagulative tumor necrosis and high mitotic activity. Frequent expression of CD34 in PXA is also helpful in differential diagnosis.</p>

A clinicopathologic study of dysembryoplstic neuroepithelial tumor / 中华病理学杂志

<p><b>UNLABELLED</b>OBJECTIVE To study the clinicopathologic features, radiologic findings, treatment modalities and prognosis of dysembryoplastic neuroepithelial tumor (DNT).</p><p><b>METHODS</b>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.</p><p><b>CONCLUSIONS</b>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.</p>