1/45. Translocation of chromosomes 11 and 22 in choroidal metastatic Ewing sarcoma detected by fluorescent in situ hybridization.PURPOSE: To describe a patient with metastasis of Ewing sarcoma to the choroid and the molecular genetics of the tumor. methods: A 26-year-old woman with metastatic Ewing sarcoma developed large choroidal masses in the left eye and died 2 months later. autopsy of the eyes was performed. Dual-color fluorescent in situ hybridization was used to detect genetic alteration in the ocular tumor with EWS and FLI-1 probes. RESULTS: Histopathology confirmed choroidal metastatic Ewing sarcoma. Molecular analysis showed chromosomal translocation t(11;22)(q24;q12) or EWS/FLI-1 rearrangement in the malignant cells of the eye. CONCLUSIONS: Ewing sarcoma can rarely metastasize to the uvea. Molecular detection of the t(11;22)(q24;q12) translocation in Ewing sarcoma is valuable in the differential diagnosis of small round cell tumors.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/45. hemangioendothelioma of bone in a patient with a constitutional supernumerary marker.A 13-year old girl was diagnosed as having a bone hemangioendothelioma. Cytogenetic studies identified the presence of a small supernumerary marker chromosome in this patient. Classical cytogenetic methods using G-, C-, Ag-NOR-banding were supplemented by spectral karyotyping (SKY) and fluorescence in situ hybridization to reveal a karyotype 47,XX, mar.ish der(22)(D22S543 ) karyotype in cells derived from the tumor and lymphocytes. These findings suggest that the supernumerary marker chromosome originated from the proximal centromeric region of chromosome 22, and that trisomy of the region 22q11 was not associated with adverse phenotypic effects, but that the presence of trisomy 22q11 may be related to the development of this tumor.- - - - - - - - - - ranking = 0.2keywords = hybridization (Clic here for more details about this article) |
3/45. Multifocal osteosarcoma as second tumor after childhood retinoblastoma.We present a case of multifocal osteosarcoma (MFOS) arising 11.5 years after successful treatment of bilateral retinoblastoma. The clinical, imaging and pathological findings at onset, after therapy, and during follow-up are described. Fluorescent in situ hybridization did not reveal a deletion of the RB-1 retinoblastoma gene, although the presence of an inactivating mutation invisible to this method cannot be ruled out. The MFOS may have been a second multifocal tumor associated with the original retinoblastoma or a post-irradiation sarcoma with extensive metastases.- - - - - - - - - - ranking = 0.2keywords = hybridization (Clic here for more details about this article) |
4/45. Molecular genetic characterization of both components of a dedifferentiated chondrosarcoma, with implications for its histogenesis.Dedifferentiated chondrosarcoma is defined as a high-grade, anaplastic sarcoma adjacent to a low-grade malignant cartilage-forming tumour. Controversy remains as to whether the anaplastic and cartilaginous components are derived from a common precursor cell, or whether they represent separate genotypic lineages (collision tumour). Both components of a case of dedifferentiated chondrosarcoma were therefore separately investigated by loss of heterozygosity (LOH) analysis, comparative genomic hybridization (CGH), dna flow cytometry, and p53 analysis. Both showed p53 overexpression and an identical somatic 6 bp deletion in exon 7 of p53. Combination of the CGH and LOH results revealed that both components had lost the same copy of chromosome 13. These results provide compelling evidence in this case for a common origin, instead of the 'collision tumour' theory. Certain genotypic alterations were not shared. The anaplastic component showed severe aneuploidy, LOH at additional loci, and amplification and deletion of several chromosome parts. In contrast, the cartilaginous component had lost chromosomes 5, 22, 17p and part of 16p and revealed an amplification of 17q. The LOH and CGH results further demonstrated that the two components had lost a different copy of chromosome 4. Thus, a substantial number of genetic alterations have occurred after the diversion of the two components, indicating that the separation of the two clones, derived from a single precursor, was a relatively early event in the histogenesis of this case of dedifferentiated chondrosarcoma.- - - - - - - - - - ranking = 0.2keywords = hybridization (Clic here for more details about this article) |
5/45. Epstein-Barr virus early ribonucleic acids as a diagnostic adjunct for relapsed metastatic tumors in patients with cured primary undifferentiated nasopharyngeal carcinoma.PURPOSE: Epstein-Barr virus (EBV) has been consistently shown to be associated with undifferentiated nasopharyngeal carcinoma (NPC). In this article, the authors attempt to detect Epstein-Barr virus in distant relapsed metastatic sites in undifferentiated NPC patients with cured primary cancer. MATERIALS AND methods: in situ hybridization (ISH) technique is a reliable method to detect EBV early RNAs (EBERs) within NPC cells. We used a nonisotopical ISH technique to examine the presence of EBERs in paraffin-embedded tissues obtained from 1 paired specimen of primary NPC and its metastatic counterpart at liver and 2 metastatic specimens of retroperitoneal lymph nodes and bone. RESULTS: All the primary lesions and the metastatic tumors of NPC with undifferentiated histology contained EBERs that could be clearly detected in the nuclei of cancer cells. CONCLUSIONS: This article shows that EBERs can be successfully detected in cells of the distant relapsed metastatic sites. These results suggest that this nonisotopical ISH method of EBERs can be potentially used to diagnose NPC patients developing distant relapsed metastatic lesions with cured primary cancer early. It can offer quick information as to institute suitable salvage chemotherapy for these patients.- - - - - - - - - - ranking = 0.2keywords = hybridization (Clic here for more details about this article) |
6/45. Posttransplant Epstein-Barr virus-associated myogenic tumors involving bone.BACKGROUND: Epstein-Barr virus (EBV)-associated myogenic tumors in immunocompromised patients were recently recognized, but their biologic behavior remains only partially understood. Although observations so far have permitted the recognition of similarities between posttransplant myogenic tumors and posttransplant lymphoproliferative disorders (PTLD), the number of reports are still few, and new experiences continue to be informative. methods: The authors describe what they believe is the first example of posttransplant EBV-associated myogenic tumor involving bone, which is also remarkable for its multicentric symmetric limb distribution. immunohistochemistry of tumor cells for myogenic antigens (desmin and smooth muscle actin), EBV antigens (latency proteins latent membrane protein-1 [LMP-1], Epstein-Barr nuclear antigen-2 [EBNA-2], and ZEBRA), p53, and bcl-2 was examined by standard avidin-biotin-peroxidase complex methods. Molecular techniques investigated in situ hybridization for Epstein-Barr virus-encoded messenger RNAs (EBERs) and single-strand conformation polymorphism analysis for p53 mutation. RESULTS: Although the biologic behavior of this tumor was uncertain, the reduction of immunosuppression arrested tumor growth for 5 years, at the expense of some loss in renal function. The occurrence of episodes of acute cellular rejection required pulse therapy, resulting in the appearance of new lesions in both liver and lungs. Despite these complications, a balance between control of this multicentric tumor growth and allograft survival has been maintained for 8 years. CONCLUSIONS: To the authors' knowledge, this example of posttransplant myogenic tumor is the first described in the bone. It shows partial response to immunomodulation with persistent tumor, with prolonged survival of the renal allograft.- - - - - - - - - - ranking = 0.2keywords = hybridization (Clic here for more details about this article) |
7/45. Anaplastic large cell lymphomas presented as bone lesions: a clinicopathologic study of six cases and review of the literature.Non-Hodgkin's lymphomas uncommonly present as bone lesions. Most of these tumors are diffuse large B-cell lymphomas. Anaplastic large cell lymphoma (ALCL) presented as bone lesions is exceedingly rare. In this study, we describe six cases of ALCL that presented as solitary or multiple bone lesions. The average patient age was 33 years (range, 4 to 63 years) and the male to female ratio was 2:1. fever and localized bone pain were the most frequent presenting symptoms. Radiologic examinations revealed osteolytic lesions in all cases, with three (50%) being multiple lesions and five (83%) involving the axial bones. All patients were initially assessed to have only bone involvement. Staging studies revealed mild cervical lymphadenopathy in one patient and no evidence of extraskeletal disease in the other five patients. Histologically, there was diffuse infiltration of one or more bones by large pleomorphic lymphoma cells. Immunohistochemical studies showed all six neoplasms were positive for CD30, EMA, and granzyme B. One case was of T-cell lineage, positive for CD3. One case was positive for the T-cell-associated antigen CD4. The remaining four cases were of null-cell type. In-situ hybridization for EBV was performed in five cases; all were negative. Despite the relatively low International Prognostic Index (IPI) of these patients (mean, 1.67; range, 1 to 3), the overall prognosis was relatively poor: three of six died of disease within 2 years of diagnosis, and two of six were alive with evidence of disease (follow-up, 6 mo to 2 years). Thus, compared to their nodal counterparts, ALCLs that present as bone lesions are distinguished by their uniform expression of EMA and granzyme B, and a relatively poor clinical outcome. Our results also suggest that ALK-1 expression in this clinical setting is not a favorable prognostic indicator.- - - - - - - - - - ranking = 0.2keywords = hybridization (Clic here for more details about this article) |
8/45. Primary pulmonary osteosarcoma: case report and molecular analysis.BACKGROUND: Primary pulmonary osteosarcoma is an extremely rare malignancy. To date, only 12 cases have been reported, with a high mortality rate. The authors report on a newly diagnosed patient and describe investigations that were performed using immunohistochemistry and comparative genomic hybridization (CGH). methods: The clinical course of a woman age 37 years is presented. Along with routine histologic examination, immunohistochemistry was used to demonstrate differentiation-associated proteins, oncoproteins, and other markers; CGH analysis for genomic alterations; and histochemistry to demonstrate alkaline phosphatase activity. RESULTS: Immunohistochemical analysis showed varying expression patterns using antibodies against a panel of tumor markers. Most notable was high overexpression of BCL-2 and cyclin d. CGH analysis showed that this neoplasm contained a much higher level of genetic aberrations compared with skeletal osteosarcoma. CONCLUSIONS: This tumor exhibited features common to skeletal osteosarcomas but also had some unique features. genome analysis suggests that this tumor has several genetic aberrations in common with extraskeletal osteosarcoma. The novel regions of instability identified within the tumor genome may contribute toward the unique tumor phenotype and relative chemoresistance.- - - - - - - - - - ranking = 0.2keywords = hybridization (Clic here for more details about this article) |
9/45. Translocation (10;11;22)(p14;q24;q12) characterized by fluorescence in situ hybridization in a case of Ewing's tumor.It is well recognized that the identification by classic cytogenetics of t(11;22)(q24;q12) is a useful aid in the accurate diagnosis of Ewing's sarcoma and related tumors. This translocation induces the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription-polymerase chain reaction. Recent studies have also used fluorescence in situ hybridization (FISH) to demonstrate the translocation. The authors coupled classic cytogenetics and FISH on tumor cells from the original specimen, the local recurrence, and the pulmonary metastasis as well as from the xenografted tumors in a case of extraosseous Ewing's sarcoma. FISH analysis not only confirmed the cytogenetic results but also allowed the identification of a tumor-specific chromosome change, consistent with a complex translocation, t(10;11;22), as well as revealed other chromosomal rearrangements on both metaphases and interphase nuclei of each material. In addition this technique served to identify, in the interphase nuclei of the original tumor, the clone that became dominant, from the cytogenetic point of view, in the lung metastasis and in the nude mice xenografted tumors. Current results indicate that the use of FISH on metaphases and interphase nuclei is an easy and reliable approach to complement or even to substitute classic cytogenetic studies for the detection of specific chromosomal rearrangements, especially for determining complex translocations and for describing tumoral clones with different cytogenetic markers.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
10/45. Small round cell tumor with biphenotypic differentiation and variant of t(21;22)(q22;q12).A 14-year-old boy presented with a soft tissue swelling on the outer aspect of his left upper arm. Examination of the tumor by light microscopy showed a small round cell tumor with a rare focus of myogenic differentiation. Myogenic differentiation was confirmed on ultrastructural examination by immunohistochemistry and reverse transcriptase polymerase chain reaction (RT-PCR). Conventional G-banding and fluorescent in situ hybridization (FISH) demonstrated a complex variant of t(21;22)(q22;q12). By RT-PCR, the EWS-ERG fusion transcript was defined as type 9e. This tumor was unusual in that it showed characteristics of myogenic and neural differentiation, and contained a rearrangement of the EWS gene consistent with a diagnosis of Ewing's sarcoma. This supports the hypothesis that a class of biphenotypic childhood sarcomas, with features of myogenic and neural differentiation, exists that may be related to the Ewing's sarcoma family of tumors.- - - - - - - - - - ranking = 0.2keywords = hybridization (Clic here for more details about this article) |
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