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PubMed2006

Chondrosarcoma of the spine: a rare case with unusual presentation.

Chondrosarcoma is the third most common primary malignancy of bone, affecting primarily the pelvic and shoulder girdles and being extremely rare in the spine. Herein, we present a case of a 65-year-old woman with a rare chondrosarcoma of the spine, who presented with clinical symptoms from the lung metastasis. The neoplasm was grade II and exhibited overexpression of the p53 tumor suppressor protein. The latter has been associated with a high propensity for distant metastases.

Journal Article↗
PubMed2003

A longitudinal neuropsychological study of partial brain radiation in adults with brain tumors.

OBJECTIVE: To investigate longitudinal cognitive functioning in patients with brain tumor treated with modern highly conformal fractionated partial brain radiation therapy (RT). METHODS: Seventeen (of 22 initial consecutive patients) adults with primarily low-grade brain neoplasms who underwent either biopsy or tumor resection were tested at pre-RT baseline and at 3, 6, 12, and 24 months after baseline. Participants were classified as RT-treated nonprogressors (n = 12) or progressors (n = 3) based on serial follow-up structural imaging. Two patients received surgery only and served as controls to help minimize surgical, practice, test form, or other potential non-RT effects. Serial neuropsychological assessments were conducted using alternate forms of the Selective Reminding Test, 10/36 Spatial Recall Test, and Symbol Digit Modality Test (oral, written) as well as the Shipley Scale (baseline only), Wechsler Adult Intelligence Scale-Revised Digit Span, Trail Making Test, and the Symptom Checklist-90-Revised Global Severity Index scale. RESULTS: There was evidence of subtle attention and memory improvement in RT-treated nonprogressors throughout the 2-year period, with no evidence of cognitive decline. In contrast, patients with disease progression evidenced more substantial decline in memory and attention. CONCLUSIONS: Partial brain fractionated RT was not associated with adverse neuropsychological effects through the first 2 years following therapy.

Adult↗
PubMed2004

Microdissection-based genotyping assists discrimination of reactive gliosis from glioma.

We used molecular anatomic pathology to determine the mutational status (loss of heterozygosity [LOH]) to make the distinction between reactive gliosis and glial neoplasia. LOH has been shown to be absent in reactive states and present in neoplastic cellular proliferations. Three groups of patient specimens were analyzed: group 1, reactive gliosis (n = 15); group 2, gliomas of varying histologic type and grade (n = 54); group 3, diagnostically challenging reactive gliosis vs glioma (n = 16). No group 1 cases (0/15 [0%]) showed allelic loss, whereas all high-grade glial neoplasms, a subset of group 2 (35/35 [100%]) manifested at least 1 allelic loss alteration, with most cases (33/35 [94%]) displaying 2 or more such changes. During a look forward at the group 3 patients, clinical history clarified the problematic diagnosis in a subset of 11 patients: 8 (73%) of 11 clinical outcomes were predicted correctly by our analysis. The molecular anatomic pathology approach outlined herein is designed for minute, formalin-fixed, paraffin-embedded specimens, which are encountered in everyday surgical pathology practice. Molecular anatomic pathology opens the possibilities of molecular analysis to everyday pathology practice.

Brain Neoplasms↗
PubMed2004

Kaposiform hemangioendothelioma: the first reported case in a nonhuman animal species.

Kaposiform hemangioendothelioma is a rare vascular tumor that almost exclusively occurs in children. It is a low-grade malignant neoplasm that is locally aggressive but without proven metastatic potential. Herein, we describe a case of Kaposiform hemangioendothelioma in a 10-year-old male dog. To the best of our knowledge, this is the first report of this vascular tumor occurring in a nonhuman animal species. The tumor was located on the ventromedial surface of the posterior limb. Microscopic examination of the lesion revealed a multinodular tumor with sheets of spindled endothelial cells forming vascular slits similar to Kaposi's sarcoma and peripheral tumor lobules resembling capillary hemangioma.

Animals↗
PubMed2026

Graph neural network-based risk stratification of prostate cancer using gene expression and SHAP interpretability.

Accurate risk stratification is essential for guiding treatment decisions and preventing over treatment of prostate cancer, which remains one of the most prevalent cancers among adult men. While the Gleason score, obtained from prostate biopsies, is routinely used to assess tumor aggressiveness, the biopsy procedure carries risks such as pain, infection, and, in some cases, serious complications such as sepsis. In this study, we proposed an artificial intelligence-based framework that integrates mRNA expression profiles with functional interaction networks to classify prostate cancer patients into low-, medium-, and high-risk groups defined by Gleason scores. The pipeline comprised five steps: (1) data collection from The Cancer Genome Atlas (TCGA), (2) preprocessing of gene expression data, (3) two-stage feature selection to identify informative biomarkers, (4) risk classification using a dual-branch graph neural network (GNN) that combines gene-gene interaction graphs with sample-level expression features, and (5) model interpretation using SHAP to quantify feature contributions. Differentially expressed genes were identified in the High (ASPN, GMNN, PEBP4, C2, KNCK17), Medium (C2, IGSF1, ASPN, CDKN3, AMH), and Low (TNMD, VWA5B2, ST6GALNAC5, CYP3A5, PHGR1) risk groups, underscoring the molecular heterogeneity of disease progression. On an independent held-out test set, the model achieved AUCs of 0.86, 0.88, and 0.95 for the low-, medium-, and high-risk groups, respectively, with an overall accuracy of 80%. These results suggest that combining GNN-based modeling with explainable AI can capture both global and local molecular patterns relevant to tumor aggressiveness. However, as the model was developed and evaluated solely on the TCGA cohort, the findings should be regarded as exploratory, and external validation will be required to establish generalizability. Within these limitations, the proposed framework highlights the potential of molecular profiling and graph-based deep learning to support more precise, potentially less invasive, risk assessment and individualized treatment planning in prostate cancer.

Prostatic Neoplasms↗
PubMed1995

Assessment of cathepsin L activity by use of the inhibitor CA-074 compared to cathepsin B activity in human lung tumor tissue.

In a series of pairs of lung tumor tissue and non-tumor lung parenchyma from 50 patients, the activity of cathepsin L was measured with Z-Phe-Arg-AMC using the inhibitor CA-074 to delimitate from cathepsin B activity also present in the tissue extracts. Cathepsin B was assessed in the same samples with its specific substrate Z-Arg-Arg-AMC. It was found that in tumor tissue the median activities of cathepsin L and cathepsin B were increased 1.6-fold and 4.9-fold, respectively. The levels of activity of both enzymes did not correlate with TNM stages nor with cell differentiation of bronchial carcinomas. Cathepsin L activity was found to be insignificantly higher in adenocarcinoma compared to squamous cell carcinoma, while cathepsin B activity did not vary across the histologies. The activities of both enzymes were low in pulmonary carcinoids, which are known to be low-grade malignant neoplasms. The amount of cathepsin B activity exceeded by far that of cathepsin L activity as proven by measurement with Z-Phe-Arg-AMC in the presence of the inhibitor Z-Phe-Phe-CHN2:95-98% of cathepsin B activity vs 2-5% of cathepsin L activity were determined. By SDS-PAGE separation and immunoblot analysis, it could be demonstrated that significant amount of cathepsin L is complexed with the cysteine proteinase inhibitor kininogen. This explains the rather low cathepsin L activity values in the tissue extracts.

Adenocarcinoma↗
PubMed2006

Soft tissue myoepithelial carcinoma.

BACKGROUND: Myoepitheliomas are tumors composed predominantly or exclusively of myoepithelial cells, usually arising in salivary glands. Cutaneous/soft tissue localization is very rare, especially for the malignant myoepitheliomas. CASE REPORT: We presented a case of myoepithelial carcinoma involving subcutaneous adipose tissue of the left forearm in a woman aged 62 years. The tumor was composed of epithelioid and hyaline cell types, arranged in diffuse sheets, nests and loose clusters within hyalinized and myxoid matrix. The neoplasm displayed high-grade cytologic atypia with some cells having pleomorphic, hyperchromatic nuclei, and others showing vesicular nuclei, large nucleoli with scattered bizarre giant cells. High mean mitotic count of 7 mitoses/10 high power filds and extensive necrosis favoured the diagnosis of malignancy. Immunohistochemical staining was positive for cytokeratin (AE1/AE3), epithelial membrane antigen, S-100 protein, glial fibrillary acidic protein, and vimentin. CONCLUSION: Considering the subcutaneous localization, myoepithelial immunophenotype and high-grade cytologic atypia the neoplasm was classified as a soft-tissue myoepithelial carcinoma.

Female↗
PubMedDate not supplied

Primary leiomyosarcoma of brain in an adolescent with common variable immunodeficiency syndrome.

A 14-year-old girl with common variable immunodeficiency syndrome was found to have a low-grade malignant neoplasm arising in the left temporal lobe of the brain. Ultrastructural and immunohistochemical studies established a diagnosis of leiomyosarcoma, despite the rarity of this tumor in children. In situ hybridization with the EBER probe revealed essentially all of the neoplastic cells to be infected with Epstein-Barr virus (EBV). Children with the acquired immunodeficiency syndrome (AIDS) are known to exhibit an increased incidence of smooth muscle tumors associated with EBV. Similar tumors have been reported in EBV-infected patients undergoing therapeutic immunosuppression. This appears to be the first reported case of childhood leiomyosarcoma where the cause of the underlying immunodeficiency was a genetic rather than acquired disorder. The authors conclude that electron microscopy, immunohistochemistry, and other ancillary techniques are essential in the evaluation of unusual tumors in immunocompromised children, whether the cause is hereditary or acquired.

Adolescent↗
PubMed2004

Erdheim-Chester disease mimicking a primary brain tumor. Case report.

Erdheim-Chester disease (ECD) is a rare systemic histiocytic disease. The authors present a case report detailing the presentation and treatment of a 26-year-old man diagnosed with seizures and a well-circumscribed temporoparietal mass that had been demonstrated on imaging studies. Both preoperative and intraoperative diagnoses were consistent with a low-grade astrocytic neoplasm. Subsequent pathological examination indicated a histiocytic proliferation positive for CD68 and factor VIII, and negative for CD1a and S100, with Touton giant cells characteristic of ECD. This case represents the first isolated occurrence of intracranial ECD and its potential to mimic glial neoplasms.

Adult↗
PubMed2001

Molecular and biomarker analyses of salivary duct carcinomas: comparison with mammary duct carcinoma.

Salivary duct carcinoma (SDC) is a rare high-grade aggressive neoplasm that manifests close histologic features with invasive ductal carcinoma of the breast (IDC). In contrast to SDC, extensive molecular studies have been performed on IDC and led to the identification of certain biological markers. To investigate the underlying molecular and biologic characteristics of SDC, we performed molecular analyses using microsatellite markers on chromosomal arms 6q, 16q, 17p, and 17q, DNA flow cytometry and immunohistochemical staining for androgen receptor (AR) and p53 expression on 28 examples of these tumors in comparison to 24 IDC cases. Our results show that generally similar allelic alterations, elevated p53 and androgen receptor expressions, and high frequency of DNA aneuploidy are manifested in both SDCs and IDCs. Differences at certain markers on 6q, 17p and 17q chromosomal loci, however, were observed between the two entities. Certain loci on 6q were more frequently altered in SDC than IDC which loci on chromosomes 17p and q arms were more seen in IDCs than SDCs. The majority of SDCs had high AR expression while most of IDCs were AR negative. Our study indicates that: i) SDC may share some genetic alterations with IDC, ii) high AR expression in SDC may play a role in tumor progression, and iii) p53 overexpression and DNA aneuploidy in both entities reflect their aggressive behavior.

Adult↗
PubMed2000

Differential distribution of the neuron-associated class III beta-tubulin in neuroendocrine lung tumors.

OBJECTIVE: To study the immunoreactivity profile of the neuron-associated class III beta-tubulin isotype (beta III) in epithelial lung tumors. DESIGN: One hundred four formalin-fixed, paraffin-embedded primary and metastatic lung cancer specimens were immunostained with an anti-beta III mouse monoclonal antibody (TuJ1) and an anti-beta III affinity-purified rabbit antiserum. Paraffin sections from fetal, infantile, and adult nonneoplastic lung tissues were also examined. RESULTS: In the fetal airway epithelium, beta III staining is detected transiently in rare Kulchitsky-like cells from lung tissues corresponding to the pseudoglandular and canalicular but not the saccular or alveolar stages of development. beta III is absent in healthy, hyperplastic, metaplastic, and dysplastic airway epithelium of the adult lung. In contrast, beta III is highly expressed in small cell lung cancer, large cell neuroendocrine carcinoma, and in some non-small cell lung cancers, particularly adenocarcinomas. There is no correlation between expression of beta III and generic neuroendocrine markers, such as chromogranin A and/or synaptophysin, in pulmonary adenocarcinomas. Also, focal beta III staining is present in primary and metastatic adenocarcinomas (to the lung) originating in the colon, prostate, and ovary. beta III is expressed to a much lesser extent in atypical carcinoids and is rarely detectable in typical carcinoids and squamous cell carcinomas of the lung. The distribution of beta III in small cell lung cancer and adenocarcinoma metastases to regional lymph nodes and brain approaches 100% of tumor cells, which is substantially greater than in the primary tumors. CONCLUSIONS: In the context of neuroendocrine lung tumors, beta III immunoreactivity is a molecular signature of high-grade malignant neoplasms (small cell lung cancer and large cell neuroendocrine carcinoma) although its importance in atypical carcinoids must be evaluated further. In addition, beta III may be a useful diagnostic marker in distinguishing between small cell lung cancers and certain non-small cell lung cancers (poorly differentiated squamous cell carcinomas), especially in small biopsy specimens. To our knowledge, beta III is the only tumor biomarker that exhibits a substantially more widespread distribution in poorly differentiated than in better differentiated pulmonary neuroendocrine tumors. However, the significance of beta III phenotypes in non-small cell lung cancer, particularly adenocarcinoma, with respect to neuroendocrine differentiation and prognostic value, requires further evaluation.

Adult↗
PubMed2004

Chordoid glioma: clinicopathologic profile and differential diagnosis of an uncommon tumor.

Chordoid glioma is an uncommon low-grade brain neoplasm arising in the third ventricular region, predominantly in middle-aged women. It characteristically shows chordoma-like histologic features and glial fibrillary acidic protein immunoreactivity. We present a case of chordoid glioma in a previously healthy 56-year-old woman admitted to our hospital because of a cranial trauma subsequent to an incidental fall. Radiologic examinations revealed a well-demarcated, partially cystic, enhancing mass at the level of the lamina terminalis. The lesion was surgically removed. The patient remained alive and well 8 months after the surgery. Histologically, the tumor consisted of clusters and cords of epithelioid cells embedded in a mucinous matrix. Lymphoplasmacytic infiltrates and Russell bodies were prominent. Immunohistochemically, the tumor cells were positive for glial fibrillary acidic protein, neurofilaments, and neuron-specific enolase, suggesting a divergent neuronal and glial differentiation. The Ki-67 index was low. The clinicopathologic profile and the differential diagnosis of this tumor are discussed.

Brain Neoplasms↗
PubMedDate not supplied

Inferior head resection of the pancreas for noninvasive intraductal papillary mucinous adenocarcinoma.

We report inferior head resection of the pancreas for noninvasive intraductal papillary mucinous cancer. A 77-year-old man was admitted to our hospital complaining of epigastric pain. Contrast-enhanced computed tomographic scan and magnetic resonance imaging showed a multilocular cystic tumor 3.5 cm in diameter in the head of the pancreas. We performed inferior head resection of the pancreas with partial resection of the duct of Santorini. The duodenum, the common bile duct, and most of the duct of Santorini were preserved. He is presently alive and well without any evidence of recurrent disease 49 months after the operation. Partial pancreatic resection has the advantage of preserving pancreatic parenchyma. Inferior head resection of the pancreas would play an important role in surgical management of low-grade malignant neoplasm.

Adenocarcinoma, Mucinous↗
PubMed2004

Dermatofibrosarcoma protuberans and breast cancer: genetic link or coincidental association?

Dermatofibrosarcoma protuberans is a low-grade cutaneous neoplasm originating from the dermis with a high propensity for local recurrence. These malignancies are classified as soft tissue sarcoma although regional or distance metastatic spread is rare. Germ-line mutations of p53 have been described with a rare autosomal dominant syndrome in patients with soft tissue sarcoma and breast adenocarcinoma (Li Fraumeni's syndrome). The described case illustrates the rare occurrence of dermatofibrosarcoma protuberans (DFSP) and breast adenocarcinoma with an emphasis on the possibility of a molecular or genetic association.

Adult↗
PubMed2006

[Cutaneous B cell processes with nodular pattern].

Cutaneous lymphomas are low grade malignant neoplasms with favourable prognosis. Those related to the germinal centre with nodular pattern may be: follicular lymphomas (LFC) or extranodal marginal zone B-cell lymphomas (LMC). They are difficult to tell apart, and from reactive processes like cutaneous follicular hyperplasia and cutis immunocytomas. The objective of this study was to check the incidence and the value of both histology and immunohistochemistry in differential diagnosis. Fifty six patients with cutaneous lymphomas were selected within the period 1995-2004. The biopsies were studied with hematoxilin eosin and immunohistochemistry. Thirty two out of the fifty six cutaneous lymphoid infiltrates were of T origin (57.1%) and twenty four of B origin (42.8%), ten out of this last figure (17.7%) were lymphoid processes with nodular pattern Four LFC, three LMC and three HLC were diagnosed. Convergent follicles with scarce mantle and germinal centres with monomorph celullarity were observed in the LFC. Among the LMC, follicles with prominent mantle and nests of monocitoid cells in the mantle, interfollicular zone and in the germinal centers observed. In the HLC macrophages with detritus were found in the germinal centers. LFC showed: CD20 (+), CD 10 (+), bcl-2 (+) or (-), and bcl-6 (+) in the follicle and in the interfollicular area. LMC showed: CD 20 (+), bcl-2 (-), CD 10 (+/-), and bcl-6 (+) in the follicle, and bcl-2 (+), CD10 (-/+) and bcl-6 (-) in the interfollicular area. The HLC results were: bcl-2 (-), bcl-6 (+) and CD 10 (-) in the follicle and bcl-2 (+), bcl-6 (-) and CD 10 (-) in the interfollicular zone. We conclude that lymphoid B cell processes with nodular pattern are unusual. Histology and immunohistochemistry proved to be useful in the differential diagnosis of these lymphomas, and for differentiating these from lymphoid hyperplasias or non tumoral hyperplasias.

Adult↗
PubMed1991

T-cell lymphoblastic leukemia/lymphoma presenting in a recurrent thymoma.

A lymphoblastic malignancy presented as the lymphoid component of a recurrent invasive lymphocyte-rich thymoma that had been previously resected and treated with chemotherapy. This high grade lymphoid neoplasm concurrently involved mediastinal nodes and subsequently disseminated to pleural fluid and peripheral blood. Lymphocytes with convoluted nuclei demonstrated a T-lymphoblastic phenotype (UCHL1+, Leu-22+, TdT+) by immunohistochemical studies. T-cell lymphoblastic leukemia/lymphomas in this clinical setting have not been reported, and this case suggests that neoplastic transformation of lymphocytes may occur in longstanding refractory thymomas.

Antigens, Differentiation↗
PubMed1990

Primary osteosarcoma of the lung. Report of two cases and review of the literature.

Two cases of primary osteosarcoma of the lung are presented. In one case, the radiologic, clinical, and cytologic findings led to a preoperative diagnosis of undifferentiated carcinoma of the lung. In the second case, a lung nodule was discovered during postchemotherapy follow-up in a patient with lymphoma. Fine needle aspiration in the second case showed lymphoma, and further chemotherapy was instituted; however, persistent growth of the nodule prompted a resection. Microscopic examination of the resected tumors in both cases revealed histologic features of high-grade osteosarcoma. Flow cytometric analyses of the primary tumors showed abnormal hyperdiploid deoxyribonucleic acid populations in accordance with those seen in high-grade malignant neoplasms. Immunohistochemical studies supported a mesenchymal origin for these tumors. These tumors shared clinical features with other reported cases of primary osteosarcoma of the lung such as large size at diagnosis, occurrence in older individuals, and aggressive behavior.

Female↗