1/6. Cardiac involvement and molecular staging in a fatal case of mycosis fungoides.polymerase chain reaction (PCR) amplification of T-cell receptor-gamma gene rearrangement was used for molecular staging in a case of primary cutaneous T-cell lymphoma (CTCL) with fatal evolution. Although initial evaluation was negative for systemic involvement, the patient died due to heart failure. autopsy findings revealed lymphomatous myocardial infiltration, but other tissues and organs examined, including lymph nodes, liver, spleen, lung and bone marrow, appeared to be free of disease. Molecular analysis from frozen samples obtained during the initial evaluation, as well as paraffin-embedded material obtained during autopsy, revealed the presence of clonal rearranged bands in all tissues examined except the bone marrow. Subsequent hybridization of PCR products with a tumour-specific oligoprobe confirmed the PCR results, suggesting widespread dissemination of the lymphomatous process. The use of molecular analysis can add significant information about the extent of disease in patients with CTCL and may be helpful in the establishment of therapeutic options.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/6. A t(2;19)(p13;p13.2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis.Cardiac lipomas occur infrequently but account for a significant portion of rare cardiac tumors. Common cutaneous lipomas have previously been associated with rearrangements of chromosome band 12q15, which often disrupt the high-mobility-group protein gene HMGIC. In this report, we describe the cytogenetic analysis of an unusual giant cardiac lipoma that exhibited myocardial invasion in a patient with a history of multiple lipomatosis (cutaneous lipoma, lipomatous gynecomastia, lipomatous hypertrophy of the interatrial septum, and dyslipidemia). Cytogenetic studies of cells derived from the cardiac lipoma demonstrated no abnormalities of chromosome 12, but did reveal a t(2;19)(p13;p13.2). A liposarcoma-derived oncogene (p115-RhoGEF) previously mapped to chromosome 19 and the low-density lipoprotein receptor gene (LDLR) previously mapped to chromosome band 19p13 were evaluated to determine whether they were disrupted by this translocation. fluorescence in situ hybridization analyses assigned p115-RhoGEF to chromosome 19 in bands q13.2-q13.3 and mapped the LDLR to chromosome arm 19p in segment 13.2, but centromeric to the t(2;19) breakpoint. Thus, these genes are unlikely to be involved in the t(2;19)(p13;p13.2). Further studies of the regions of chromosomes 2 and 19 perturbed by the translocation in this unusual infiltrating cardiac lipoma will identify gene(s) that participate in adipocyte growth and differentiation and may provide insight into syndromes of multiple lipomatosis.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/6. Chromosomal abnormalities and p53 gene mutation in a cardiac angiosarcoma.Angiosarcoma is the most common malignant neoplasm of the heart. However, to the authors' knowledge, no cytogenetic study of cardiac angiosarcoma has been reported. In the current study, an angiosarcoma from the right atrium of a 29-year-old man was investigated. Examination of tissue sections indicated that the tumor was a high grade epithelioid angiosarcoma of the heart. cytogenetic analysis of tumor cells revealed a hyperdiploid clonal population with chromosomal numerical changes and one structural rearrangement, which was defined as: 55, XY, der(1;17) (q10:q10), 2, 7, 8, 8, 19, 20, 21, 22. Multicolor fluorescent in situ hybridization on paraffin-embedded tissue sections illustrated polysomy of chromosome 8 in tumor cells. In addition, immunohistochemical analysis showed high expression of mutated p53 gene products in tumor cell nuclei. These findings demonstrate the involvement of chromosomal anomalies and gene mutation in cardiac angiosarcoma and suggest they play a role in neoplasia of the heart.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/6. Primary renal synovial sarcoma with inferior vena cava and right atrium invasion.Primary renal synovial sarcoma is an uncommon and perhaps under-diagnosed disease. We report a case of renal tumor in a 19-year-old man. Clinically, the tumor mimicked renal cell carcinoma with renal vein, inferior vena cava and right atrium invasion. Histologically, the tumor consisted of monophasic, high-grade, spindle cell components. The diagnosis was validated by fluorescence in situ hybridization and reverse transcription-polymerase chain reaction, which demonstrated SYT-SSX translocation: a characteristic cytogenetic finding for synovial sarcoma. Our case shows that synovial sarcoma should be considered in the differential diagnosis of renal tumors, especially in adolescents and young adults. Proper molecular analysis should be undertaken to attain a definitive diagnosis.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
5/6. Isolated pericardial relapse following allogeneic bone marrow transplantation for acute myelogenous leukemia.A 34-year-old male patient developed an isolated pericardial relapse of an acute myelogenous leukemia (M3) 11 months after marrow grafting from his HLA-identical brother. Alloenzyme pattern analysis revealed recipient type of the myeloblasts obtained from the pericardial effusion. recurrence of the original leukemia was preceded by a reactivation of latent cytomegalovirus (CMV) infection which, in spite of a systemic humoral immune response to the virus, persisted in the pericardium as shown by dot-blot hybridization using CMV-specific dna fragments. Activated T cells propagated with IL-2 from the pericardial effusion did not reveal any cytotoxic or restimulation capacity on the original or relapse myeloblasts, nor on other donor, recipient or NK target cells. Local coincidence of virus persistence and leukemic relapse suggested CMV-mediated modulation of the immune response in the pericardium with consequent induction of a proliferation of the original malignant cell clone. After local chemotherapy and one course of systemic treatment the patient is still in complete remission--longer than after the marrow grafting.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/6. Primary cardiac lymphoma. No evidence for an etiologic association with Epstein-Barr virus.OBJECTIVES--To report two cases of primary cardiac lymphoma, a rare extranodal lymphoma with an unknown pathogenesis, and to compare them to secondary B-cell cardiac lymphoma. DESIGN--Clinicopathologic features are described, using histologic and immunophenotypic examinations. The Epstein-Barr virus genome is detected by in situ hybridization. patients--Of 80 autopsied cases of malignant lymphoma identified at Nagoya (japan) University Hospital, two patients with primary cardiac lymphoma and five patients with secondary cardiac B-cell lymphoma were selected. RESULTS--None of the seven selected cases showed immunodeficiency, autoimmune disorders, or chronic inflammatory processes. Primary cardiac lymphomas had B-cell phenotypes with mu and lambda chain monoclonality. Immunostaining for Epstein-Barr virus (latent membrane protein-1) and Epstein-Barr virus-encoded rna-1 in situ hybridization did not demonstrate an association of these lymphoma with Epstein-Barr virus infection. The majority of secondary cardiac B-cell lymphomas were extranodal lymphomas and extranodal or serosal involvement was more prominent than nodal involvement. CONCLUSION--These findings suggest that primary cardiac lymphoma, unlike pyothorax-associated pleural lymphoma, appears to have no association with chronic inflammation or Epstein-Barr virus infection.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |