1/9. T-cell and T/natural killer-cell lymphomas involving ocular and ocular adnexal tissues: a clinicopathologic, immunohistochemical, and molecular study of seven cases.OBJECTIVE: Lymphomas of the eye and its adnexa are frequently of B lineage. This study aims to characterize the clinical and histopathologic features of the rare non-B-cell non-Hodgkin lymphomas (NHL) of these locations. DESIGN: Retrospective, noncomparative case series. PARTICIPANTS: Seven cases of T- and T/NK-cell lymphomas involving the ocular and ocular adnexal tissues. methods: A morphologic, immunohistochemical, and molecular analysis (polymerase chain reaction) of each of the tumors was undertaken. The lesions were classified according to the Revised European-American lymphoma (REAL) classification. The clinical and follow-up data were collected. RESULTS: The patients included four women and three men ranging in age from 32 to 88 years (mean, 63 years). The presenting ophthalmic symptoms varied from a small nodule on the upper eyelid and conjunctival swellings to dramatic loss of vision associated with gross protrusion of the globe. Five of the cases presented were secondary manifestations of a systemic lymphoma in ocular tissues; two cases represented primary disease. Three cases were "peripheral T-cell lymphomas (PTCL), unspecified" with positivity for CD3, CD8, and betaF1 and negativity for CD56. Two cases were CD3 , CD30 , and CD56- and were classified as "anaplastic large-cell lymphomas of T-cell type" (T-ALCL). The remaining two cases showed an immunophenotype of CD3 , CD56 , and betaF1- and proved to contain Epstein-Barr virus (EBV) by in situ hybridization, consistent with "T/natural killer (NK)-cell lymphoma of nasal type." Clonal T-cell populations were shown in all three of the PTCLs by Southern blot (n = 1) and polymerase chain reaction (n = 2) for the T-cell receptor gamma and beta genes in one case of ALCL but not in the T/NK-cell lymphomas. Five patients died within 2 years; only two patients (one primary PTCL and one cutaneous T-ALCL) were disease free at 4 and 5 years' follow-up, respectively. CONCLUSION: This study shows that a heterogeneous group of T-cell lymphomas can involve the eye and its adnexal tissue. Most T-cell neoplasms are secondary manifestations of systemic disease and carry a poor prognosis. These findings, in conjunction with published data on ocular B-NHL, also indicate that immunophenotypic differentiation between T- and B-NHL in these locations is of clinical importance.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/9. T(14;18)(q32;q21) involving IGH and MALT1 is a frequent chromosomal aberration in MALT lymphoma.T(11;18)(q21;q21) is the most common structural abnormality in extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) leading to the fusion of the apoptosis inhibitor-2 (API2) gene and the MALT lymphoma-associated translocation (MALT1) gene. In 2 patients with MALT lymphoma of the liver and skin, respectively, t(14;18)(q32;q21) was observed by cytogenetic analysis. Subsequent fluorescence in situ hybridization (FISH) studies disclosed that the immunoglobulin heavy-chain locus (IGH) and the MALT1 gene were rearranged by this translocation. In order to screen a large series of MALT lymphomas for this aberration, a 2-color interphase FISH assay was established. Among a total of 66 cases, t(14;18)(q32;q21) involving IGH and MALT1 was detected in MALT lymphomas of the liver (4 of 4), skin (3 of 11), ocular adnexa (3 of 8), and salivary gland (2 of 11), but did not occur in MALT lymphomas of the stomach (n = 10), intestine (n = 9), lung (n = 7), thyroid (n = 4), or breast (n = 2). In total, 12 of 66 (18%) MALT lymphomas harbored t(14;18)(q32;q21); 7 additional cases of splenic marginal zone lymphoma tested negative. All of the 12 MALT lymphomas featuring the t(14;18)(q32;q21) were negative for t(11;18)(q21;q21) by reverse transcriptase-polymerase chain reaction (RT-PCR). However, trisomy 3 and/or 18 was found in 4 of 12 cases, suggesting that the t(14;18)(q32;q21) does not occur as the sole genetic abnormality. This study identifies IGH as a new translocation partner of MALT1 in MALT lymphomas, which tend to arise frequently at sites other than the gastrointestinal tract and lung. In contrast to t(11;18)(q21;q21)( ) MALT lymphomas, those with t(14;18)(q32;q21) may harbor additional genetic abnormalities.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/9. Intraocular inflammatory myofibroblastic tumor with ALK overexpression.We report a case of an intraocular inflammatory myofibroblastic tumor nearly filling the vitreous cavity of the eye of a 50-year-old man. The tumor was composed of a mixture of spindle cells and mixed inflammatory elements, including numerous plasma cells. The differential diagnosis included inflammatory pseudotumor and neoplastic mimics of this condition. Further investigation with immunohistochemistry revealed the mass to be composed of myofibroblasts, positive for smooth muscle actin stains and with weak anaplastic lymphoma kinase (ALK) expression in some tumor cells. Evaluation by fluorescence in situ hybridization revealed the tumor cells to have multiple copies of chromosome 2 and ALK but no rearrangement of the ALK gene. The authors propose that multiple copies of the ALK gene may be involved in inflammatory myofibroblastic tumor tumorigenesis, in addition to ALK gene rearrangements.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/9. Loss of 10p material in a child with human papillomavirus-positive disseminated bilateral retinoblastoma.retinoblastoma (RB) is a malignant childhood tumor that results from loss or inactivation of both alleles of the RB1 gene. Human papillomavirus (HPV) dna sequences have been found in RB tissue, suggesting a role of the viral infection with RB. We here describe a child with disseminated bilateral RB without familial history, who displayed a loss of material from 10p. fluorescence in situ hybridization studies showed a somatic loss of both alleles of the RB1 gene. Moreover, sequences for HPV-6a were detected on dna extracted from eye tumor tissue and from nonstimulated peripheral blood leukocyte cultures. The eye tumor tissue was also positive for HPV L1 viral proteins. Repeated loss of the short arm of chromosome 10 in HPV-transfected keratinocytes has been reported. Loss of heterozygosity in 10p14 approximately p15 is also frequent in cervical cancers. Therefore, it seems probable that the abnormalities on 10p detected in the present case are related to the HPV infection. Thus, HPV could be a cofactor in the progression of RB by promoting nonrandom additional mutations.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
5/9. Immunophenotypic characterization of an unusual T-cell lymphoma presenting as anterior uveitis. A clinicopathologic case report.A 54-year-old woman presented with a unilateral, anterior uveitis that progressed to hypopyon over 4 months despite treatment with steroids. One hundred percent of the cells collected from aspirates of the anterior chamber of the affected eye were morphologically large granular lymphocytes. The aspirated cells were demonstrated by flow cytometry to be a uniform population of T lymphocytes with a diploid genome and an S fraction of 2.3%. On further investigation, the patient was found to have an extensive abdominal malignant lymphoma with the same immunophenotype but different morphologic features than the anterior chamber lymphoid infiltrate. In contrast to the cells in the anterior chamber, the abdominal tumor was highly aggressive as indicated by the cellular morphologic features and the S fraction of 43%. dna hybridization studies of the abdominal lymphoma demonstrated a T beta 2 T-cell receptor gene rearrangement. The use of these modern diagnostic methods should facilitate the diagnosis of intraocular lymphomas and may have important therapeutic and prognostic implications in the future.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/9. De novo complex autosomal translocation involving chromosomes 8, 13 and 15 in a girl with a sporadic retinoblastoma.We report a case of a 5-month-old female with sporadic monolateral retinoblastoma (RB) with a constitutional de novo complex autosomal translocation involving chromosomes 8, 13 and 15 resulting in a deletion of chromosome 13q14 confirmed by esterase D assay. The translocation of the terminal portion of chromosome 8 has been observed by in situ hybridization with c-myc and thyroglobulin probes.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
7/9. An Epstein-Barr virus positive undifferentiated carcinoma in the lacrimal sac.We report a Chinese patient who presented with metastatic undifferentiated carcinoma in the cervical lymph node of unknown primary origin. Despite a raised IgA titre against Epstein-Barr virus capsid antigen, examination and biopsy of the nasopharynx were negative. radiotherapy was given to the head and neck region with the orbit shielded. There was complete resolution of the metastatic lymph nodes. She developed proptosis of her left eye one year afterward when a large tumour was found in the lacrimal sac region. review of the initial computerized tomography revealed a small soft tissue mass in the same region. The tumour was composed of undifferentiated carcinoma cells associated with dense lymphoid infiltrate. in situ hybridization for Epstein-Barr virus EBER rna showed strong positive signals in the malignant cells. This is the first reported case of an Epstein-Barr virus positive undifferentiated carcinoma with lymphoid stroma in the lacrimal sac. In addition to the nasopharynx, salivary glands, nasal cavity and paranasal sinuses, the lacrimal sac should be considered as a potential primary site for Epstein-Barr virus positive metastatic undifferentiated carcinoma in the cervical lymph nodes.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/9. An expansive papilloma of the nasolachrymal drainage system harbouring human papilloma virus.We report a case of an expansive tumour extending from the lachrymal sac into the adjacent maxillary sinus. histology showed a benign exophytic papilloma. By means of the in situ (dna) hybridization technique, human papilloma virus (HPV) 6/11 were demonstrated, indicating a viral aetiology, similar to exophytic papillomas of the nose and larynx.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
9/9. Characterization by FISH of a t(5;13) in a patient with bilateral retinoblastoma.We have used fluorescence in situ hybridization (FISH) with a biotinylated cosmid probe (13q14) to screen 25 unrelated cases with bilateral retinoblastoma and one case with unilateral retinoblastoma. In 25 cases no deletion or chromosome rearrangements were, found. One constitutional mutation resulting from a de novo balanced chromosome translocation (5;13) in a patient with bilateral retinoblastoma was detected.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |