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Biomedical subjects

L A Cerilli

Publications and source records attributed to L A Cerilli.

8 recordsLinked to original sources

Sinonasal undifferentiated carcinoma: immunohistochemical profile and lack of EBV association.

The role of Epstein-Barr virus (EBV) in the development of sinonasal undifferentiated carcinoma (SNUC) remains unresolved. Reports of EBV-positivity in SNUC may reflect inclusion of lymphoepithelioma-like carcinomas within this group. In addition, SNUC have been incompletely characterized immunohistochemically, and their undifferentiated appearance often requires such ancillary studies to aid in their distinction from other high-grade neoplasms. To address these two issues, 25 cases of SNUC diagnosed between the years 1983 and 1999 were selected from our files. EBER in situ hybridization (ISH) was performed on the paraffin-embedded tissue by using 3H-labeled EBER-1 RNA probes. Neoplasms with sufficient tissue (22 of 25) were evaluated immunohistochemically for Ki-67, p53, chromogranin, synaptophysin, placental alkaline phosphatase (PLAP), CD99, carcinoembryonic antigen (CEA), epithelial membrane antigen (EMA), neuron-specific enolase (NSE), and latent membrane protein-1 (LMP-1). The median patient age was 58 years (range, 20-81 years), with a male-to-female ratio of approximately 3:1. The most common tumor location was the nasal cavity (18 cases), followed by the ethmoid and maxillary sinuses. Median survival was 18 months. All 25 tumors were negative for EBER-I by ISH. Ki-67 was negative in one case, 1+ in nine, 2+ in six, 3+ in five, and 4+ in one. P53 was negative in nine, 1+ in five, 2+ in two, 3+ in none, and 4+ in six. CD99 expression was strongly positive in 3 of 22 (14%) and completely negative in the remainder. Variably intense focal staining for EMA was present in 4 of 22 (18%). NSE faintly stained 4 of 22 (18%). Chromogranin, synaptophysin, PLAP, CEA, and LMP-1 were negative (0 of 22). Our results suggest that EBV does not play a role in the development of SNUC. Strict histologic criteria are necessary to avoid confusion with lymphoepithelioma-like carcinoma or other high-grade malignancies in this region. The finding of occasional CD99-positive cases adds SNUC to the growing list of CD99-positive neoplasms.

Adenocarcinoma↗

Neuroendocrine neoplasms of the lung.

Neuroendocrine tumors of the lung continue to be difficult nosologic and diagnostic problems, centering on the time-honored terms of "carcinoid," "atypical carcinoid," and "small cell carcinoma." Problems that are encountered in the classification of such neoplasms revolve around the differing criteria that have been advanced for their definition and variable application of such criteria in common practice. This review considers the epithelial and nonepithelial lesions of the lung that may demonstrate neuroendocrine and neuroectodermal differentiation. A proposal is made for a simplified system of classifying the epithelial tumors, dividing them into 3 grades with appended descriptive modifiers.

Carcinoid Tumor↗

Analysis of chromosome 9p21 deletion and p16 gene mutation in salivary gland carcinomas.

The chromosomal locus 9p21 contains the p16(INK4a/CDKN2/MTS1) tumor suppressor gene that has been implicated in a variety of tumor types, including carcinomas of the head and neck, esophagus, and pancreas. To determine whether the loss of this gene is involved in salivary gland cancers, 35 carcinomas and paired nonneoplastic specimens were analyzed for loss of heterozygosity (LOH) of polymorphic genetic markers located in the region of interest. Five types of salivary gland tumors were studied: mucoepidermoid carcinoma, salivary duct carcinoma, adenoid cystic carcinoma, acinic cell carcinoma, and polymorphous low-grade adenocarcinoma. Seven of 9 salivary duct carcinomas showed LOH of 1 or more polymorphic markers. In 1 case of salivary duct carcinoma with LOH, we confirmed a deletion of bp 240-254 within exon 2. In addition, another salivary duct carcinoma showed a homozygous deletion of p16 in differential polymerase chain reaction analysis. Loss of heterozygosity was found in 1 of 10 adenoid cystic carcinomas and 1 of 8 mucoepidermoid carcinomas and was absent in the remaining subtypes. No mutations in exon 1 or exon 2 or homozygous deletion of p16 were found in these 2 particular neoplasms with LOH. These results suggest that inactivation of p16 is important in the development or progression of at least some salivary duct carcinomas, but we found no evidence that its alteration plays a role in the other subtypes examined.

Adenocarcinoma↗

Angiosarcoma arising in a bone infarct.

A primary angiosarcoma of the femur arose in continuity with a bone infarct in a 74-year-old man. The tumor, resected by amputation, had pleomorphic polygonal and spindle cells in solid and cystic patterns with focal vasoformative features. The immunohistochemical stains CD31, CD34, factor VIII-related antigen, and Ulex europeus corroborated the endothelial differentiation of the tumor. The patient died after developing pulmonary metastases. This is the oldest reported patient with a well-documented angiosarcoma associated with a bone infarct.

Aged↗

Congenital malaria in a preterm neonate: case report and review of the literature.

Congenital malaria occurs infrequently in endemic areas and is even more uncommon in the United States. Although more than 300 cases of congenital malaria have been reported, only four reports describing this disease in preterm infants exist in the English-language literature. We report the first case of congenital malaria in an extremely low-birth-weight infant born in the United States. The maternal history and clinical findings and treatment of this infant are discussed and a summary of the prior reported cases is provided as aids to the early identification and management of infants with congenital malaria. The diagnosis of congenital malaria should be considered in infants with suspected congenital infection who are born to mothers with a history of even remote travel to endemic areas.

Adult↗

Primary renal angiosarcoma: a case report with immunohistochemical, ultrastructural, and cytogenetic features and review of the literature.

Primary angiosarcoma of the kidney is a rare tumor for which fewer than 10 case reports appear in the English literature. A case of primary renal angiosarcoma is reported, in which the tumor showed poorly differentiated spindled sarcoma admixed with typical angiomatous differentiation. Antibodies against CD31, CD34, Ulex europeus lectin type I, factor VIII-related antigen, cytokeratin (AE1/AE3), vimentin, S100 protein, epithelial membrane antigen, carcinoembryonic antigen, desmin, and smooth muscle actin were examined. CD31 showed strong diffuse membranous staining of cells in the well-differentiated areas and strong membranous staining in the spindled, poorly differentiated areas. CD34 showed strong cytoplasmic and membranous staining in both the poorly differentiated and well-differentiated areas. Staining for factor VIII-related antigen and Ulex europeus was less intense and was limited to the well-differentiated areas. Staining for cytokeratin (AE1-AE3), S100, carcinoembryonic antigen, epithelial membrane antigen, desmin, and smooth muscle actin were negative. Electron microscopy showed spindle cells containing abundant pinocytotic vesicles, vimentin-type intermediate filaments, and rare Weibel-Palade bodies. A complex karyotype was found. Our findings suggest that CD31 and CD34 are useful in defining endothelial differentiation in poorly differentiated angiosarcomas in which reactions for Ulex europeus lectin type I and factor VIII-related antigen may be equivocal.

Aged↗

Pediatric angiosarcoma of the heart: a unique presentation and metastatic pattern.

We report the seventh case of angiosarcoma of the heart in a child. The patient was a 23-month-old female who presented for lower extremity limping and underwent open surgical biopsy of the femur. Immediately postoperatively, she developed pericardial tamponade, and a bulky intracardiac mass was discovered as the underlying cause. The mass was composed of highly pleomorphic tumor cells reactive for the endothelial markers CD31, CD34, and factor VIII-related antigen (FVIII-RA). Staging evaluation revealed widespread metastases involving the brain, ovaries, and bone marrow. She died of complications of metastatic disease 8 months following initial presentation. Unusual features of this case include the young age of the patient, left-sided nature of the cardiac tumor, presentation secondary to metastatic disease, and the pattern of metastases. The literature on cardiac angiosarcoma, which is limited to six case reports in the pediatric population, is also reviewed.

Antigens, Neoplasm↗