1/12. 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) |
2/12. Chromosomal imbalances in gastric cancer. Correlation with histologic subtypes and tumor progression.dna copy number changes were analyzed by comparative genomic hybridization (CGH) in 38 gastric carcinomas and correlated with tumor histologic type and progression. Gains of copy numbers were observed in all tumors, affecting all chromosomes except chromosome 16. The average number of copy number gains was 7 (range, 1-13), most frequently located on chromosomes 11, 12, 15, 17, and 20 in 45% to 97% of tumors. High-level amplifications were found on chromosomes 12, 15, 17, and 20; the latter was affected most frequently (66%). Loss of dna copy numbers was detected in 14 tumors affecting 7 chromosomes. No statistically significant differences in the frequency and pattern of chromosomal imbalances were observed in tumor histologic type (Lauren classification) and grade of differentiation, as well as the prognostic parameters depth of invasion (pT) and lymph node involvement (pN). Our results indicate that in gastric cancer there is no specific recurrent pattern of dna aberrations to be correlated with tumor histologic type or stage. However, CGH analysis could reveal new, recurrent genetic changes in gastric cancer affecting chromosomes sites that harbor genes known to participate in tumorigenesis and progression of several human malignant neoplasms.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/12. Upper respiratory tract carcinoma with chromosomal translocation 15;19: evidence for a distinct disease entity of young patients with a rapidly fatal course.BACKGROUND: Carcinoma of the upper respiratory tract is rare in childhood, and cytogenetic aberrations have not been characterized in this population. The chromosomal translocation 15;19 has been reported four times previously. All patients were young and had tumors arising in the thorax. The three reports that provide clinical follow-up all describe superior vena cava syndrome and death soon after presentation. All tumors were diagnosed as carcinoma (three undifferentiated, one mucoepidermoid), and the authors suggested thymus, lung, or germ cell origin. methods: The authors investigated the clinical and pathologic findings in two patients with poorly differentiated carcinoma showing evidence of t(15;19). This included a 13-year-old girl with a rapidly growing epiglottic mass, leading to superior vena cava syndrome and death and a 12-year-old girl with an aggressive nasopharyngeal mass showing intracranial extension. RESULTS: The laryngeal tumor was poorly differentiated, with vesicular nuclei, prominent nucleoli, extensive necrosis, and a lymphoplasmacytic infiltrate; cells were positive for cytokeratin and negative for lymphoma, melanoma, germ cell, and endocrine markers. Electron microscopy showed rare intermediate junctions and basal lamina. The nasopharyngeal tumor was poorly differentiated with areas of obvious squamous differentiation observed histologically, immunophenotypically, and ultrastructurally. Cytogenetic and fluorescent in situ hybridization studies were consistent with t(15;19)(q13;p13.1) in both cases. Both children received chemo- and radiotherapy. The first child died of disease after 36 weeks; autopsy revealed tumor in the larynx with spread to the skin/subcutis (neck and thorax) and lymph nodes (cervical, subcarinal, and pulmonary hilar). The second child developed widespread bony metastases and died of disease after 13 weeks. CONCLUSIONS: In conjunction with previous reports, the authors' findings show that t(15;19) is part of a distinct clinicopathologic entity characterized by young age, midline carcinoma of the neck or upper thorax, and a rapidly fatal course. female gender and superior vena cava syndrome are common. The histogenesis of these distinctive tumors is unknown. The authors' findings suggest origin in the upper airway, perhaps from submucosal glands.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/12. comparative genomic hybridization analysis of benign and invasive male breast neoplasms.comparative genomic hybridization (CGH) analysis was performed for the identification of chromosomal imbalances in two benign gynecomastias and one malignant breast carcinoma derived from patients with male breast disease and compared with cytogenetic analysis in two of the three cases. CGH analysis demonstrated overrepresentation of 8q in all three cases. One case of gynecomastia presented gain of 1p34.3 through pter, 11p14 through q12, and 17p11.2 through qter, and loss of 1q41 through qter and 4q33 through qter. The other gynecomastia presented del(1)(q41) as detected by both cytogenetic and CGH analysis. CGH analysis of the invasive ductal carcinoma confirmed a gain of 17p11.2 through qter previously detected by cytogenetic analysis. These regions showed some similarity in their pattern of imbalance to the chromosomal alterations described in female and male breast cancer.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
5/12. Metastatic endocervical adenocarcinoma presenting as a virilizing ovarian mass during pregnancy.BACKGROUND: We report a case of metastatic endocervical adenocarcinoma that presented as a virilizing ovarian mass in a young pregnant woman and simulated a primary ovarian endometrioid tumor. CASE: A 34-year-old woman underwent cesarean delivery and right salpingo-oophorectomy at 34 weeks' gestation for a 32-cm androgen-producing ovarian mass. The ovarian tumor, initially interpreted as a primary ovarian endometrioid carcinoma, was demonstrated to represent metastatic endocervical endometrioid adenocarcinoma based on detection of human papillomavirus 16 (HPV-16) deoxyribonucleic acid in the tumor by in situ hybridization. The hysterectomy specimen demonstrated an endocervical adenocarcinoma associated with adenocarcinoma in situ that also contained HPV-16. CONCLUSION: Human papillomavirus is considered an etiological agent in the development of endocervical adenocarcinomas, having been demonstrated in greater than 90% of tumors. In contrast, recent studies have concluded that HPV is unlikely to play an etiological role in ovarian neoplasia. The demonstration of HPV-16 in both the endocervical and ovarian carcinomas in this patient supports the interpretation that the ovarian tumor is a metastasis.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/12. 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) |
7/12. Nasal natural killer/T cell lymphoma with cutaneous involvement: case report and Chinese literature review reported in china mainland.Nasal natural killer (NK)/T cell lymphoma is an Epstein-Barr virus (EBV) associated lymphoma that arises in the nasal area and aggressively invades surrounding tissues. Our patient was a 48-year-old male who had had nasal obstruction and nasal discharge for 2 years and infiltrating plaques and necrosis on his nasal dorsum for three months. He developed fever and fatigue two weeks before admission. biopsy from both skin and nasal mucosa revealed atypical medium-sized tumor cells infiltrating into the dermis. Immunohistochemical studies revealed that the tumor cells were UCHL-1, cytoplasmic CD3, CD56, TIA-1, and granzyme B positive, and CD8 and CD20 negative. in situ hybridization for EBV-dna was positive. Clonal TCRb and TCRg gene rearrangement were negative. The patient was treated with cyclophosphamide, vincristine, and prednisone (COP) and with local radiotherapy, but he died 20 days later. We reviewed the cases of nasal NK/T cell lymphoma reported in mainland china in the Chinese literature during the last 5 years.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/12. Blastic natural killer (NK)-cell lymphoma: report of an unusual CD4 negative case and review of the CD4 negative neoplasms with blastic features in the literature.Blastic Natural Killer (NK)-cell lymphoma is a relatively new entity which has been recently included in the WHO classification. CD4 expression is observed in most cases of blastic NK-cell lymphomas and has been related with skin tropism. We report an unusual CD4 negative blastic NK-cell lymphoma with primary presentation in the skin, subsequent infiltration of the bone marrow and aggressive behavior. It is emphasized that extensive immunophenotyping and EBER rna in situ hybridization are required in order to establish the diagnosis of blastic NK-cell lymphoma. We also present a review of the literature with respect to the CD4 negative NK-cell lymphomas with blastic morphological features.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
9/12. Human papillomavirus-16 dna in a cutaneous invasive cancer.A middle-aged man with a 20-year history of a warty lesion on his finger was diagnosed histologically as having an invasive carcinoma at that location. Molecular analysis of the lesion showed that human papillomavirus (HPV) dna was present in this tumor. Under stringent hybridization conditions, only HPV-16 dna, which is commonly associated with genital neoplasia or cutaneous bowenoid lesions, was detected. Two-dimensional gel electrophoresis revealed that various sections of the tumor contained mostly episomal viral dna; but in one case, low levels of integrated HPV-16 dna were detected as well.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
10/12. Continuity of human papillomavirus (HPV) type between neoplastic precursors and invasive cervical carcinoma. An in situ hybridization study.infection by the human papillomaviruses (HPV) represents an important risk factor in squamous lesions of various sites. More recently, data suggest that the glandular components of some tumors may also contain human papillomaviruses. This association may implicate HPVs in the genesis of these lesions as well. We present a longitudinal in situ hybridization study of HPV expression within a single patient, showing viral mRNA in squamous dysplasia, squamous and adenocarcinoma in situ, and in invasive adenosquamous carcinoma. There was continuity of the viral type (HPV 16) in the preinvasive and invasive portions of the lesions, and HPV mRNA was clearly demonstrable in the glandular components. The case illustrates the utility of in situ hybridization for the microscopic localization of viral gene expression, in addition to providing information about the viral type and perhaps the biologic potential of the lesion.- - - - - - - - - - ranking = 6keywords = hybridization (Clic here for more details about this article) |
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