Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0268596 (EMA)
 2,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 21-year-old man who had anaplastic large cell lymphoma (ALCL) of the null-cell type with multiple bone involvement is reported. On admission, he had symptoms of incomplete paraplegia and urinary and rectal incontinence. Workup studies for staging revealed para-aortic lymph node swellings and multiple bone involvement including skull, ribs, left iliac bone, and thoracic/lumbar spine. Because paraplegia was rapidly progressive, a decompression operation was performed. The biopsy specimen obtained from the lumbar spine revealed sheetlike proliferation of anaplastic large cells. These cells were positive for CD30 (Ki-1), EMA, vimentin, and p80NPM/ALK, and negative for CD3, CD20 (L26), and CD45 (LCA). Epstein-Barr virus-encoded small RNAs were not detectable in these cells. Thus, the patient was diagnosed as having ALCL of the null-cell type. He was treated with several courses of combination chemotherapy, and finally with total body irradiation plus high-dose chemotherapy supported by peripheral blood stem cell transplantation. However, soon after the treatment, the lymphoma cells massively infiltrated his bone marrow. He died of lymphoma 8 months after admission.
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PMID:Anaplastic large-cell lymphoma of null-cell type with multiple bone involvement. 987 67

ALCL is widely recognized with its broad morphologic and phenotypic spectrum causing controversy in the diagnosis of this peculiar neoplasm. It is now beyond doubt that a significant proportion(64 to 84%) of the cases diagnosed as ALCL is closely associated with the expression of chimeric NPM-ALK protein activated by the (2;5) (p23;q35) chromosomal translocation, which can be detected by anti-p80NPM/ALK or ALK1 antibodies. Recently, some investigators including us asserted that these p80NPM/ALK or ALK1-positive(p80/ALK+) ALCLs represent a distinct genetic entity with occurrence in young patients and a favorable prognosis, and should be differentiated from the p80/ALK- tumors with the relatively aggressive clinical course. The p80/ALK+ lymphomas also revealed the characteristic morphology such as horseshoe-like, kidney-like or doughnut-like nuclei and frequent expression of EMA and cytotoxic molecules. However, these features are shared, though to a lesser degree, by other p80/ALK-negative lymphoid neoplasms. Indeed, it is indicated that cytotoxic ALCL cases may be either p80/ALK positive or negative, suggesting that the cytotoxicity and expression of p80/ALK are independent phenomena among the cases of ALCL of T- and null-cell type. Thus, several areas of disagreement and controversy that surround the diagnosis and categorization of ALCL remain.
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PMID:[Ki-1 lymphoma]. 1074 Nov 40

The presentation of anaplastic large cell lymphoma in bone is uncommon. We report a case of anaplastic large cell lymphoma of the skull that was diagnosed after head trauma. Biopsy revealed significant destruction of the outer table of the frontal bone. Histopathologically, the initial evaluation suggested osteomyelitis because of a mixed inflammatory infiltrate with large numbers of neutrophils. However, several clusters and individual mononuclear cells were atypical. The tumor cells had large, pleomorphic nuclei; these cells stained positively with antibodies to Ki-1 (CD 30), ALK-1, and EMA. Fluorescence in situ hybridization (FISH) showed rearrangement of the ALK gene, which usually results from the t(2;5) translocation, present in most anaplastic large cell lymphomas. There was no evidence of systemic disease. The patient has tolerated chemotherapy and is free of disease 12 months later.
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PMID:Neutrophil-rich anaplastic large cell lymphoma of the skull presenting after head trauma. 1144 42

The characteristic histologic features and immunophenotype are usually diagnostic and allow distinguishing CD30 positive T-cell lymphoma (including anaplastic large cell lymphoma) from classical Hodgkin's lymphoma. The latter differs by expression of CD15 and lack of CD45, pan-T antigens and ALK expression. We report nine cases of large cell hematopoietic neoplasms in which the neoplastic cells co-expressed CD30 and CD15, and had immunophenotypic and morphologic features of T-cell lymphoproliferative process. The average age of the CD15-positive group was 61.9 years; 6 cases occurred in men and 3 in women. The tumors were located in lymph nodes in 8 cases, and in liver in 1 case. Two cases expressed ALK protein. There were no statistically significant differences in phenotypic parameters between the CD15-positive and CD15-negative neoplasms (p>0.05). However, the CD15-positive group appeared to show a minor trend toward less positivity for EMA (44% versus 72%), ALK protein (22% versus 51%), and CD45RO (33.3% versus 83.3%, p=0.07), when compared to the typical CD15-negative neoplasms. In summary, although the co-expression of CD30 and CD15 is typical for classical HL, it may be also present in a subset of peripheral T-cell neoplasms including ALK-positive anaplastic large cell lymphoma. Combined and sensible use of morphology and a broad immunophenotypic panel in cases with limited material and/or those with overlapping histologic patterns will best discriminate between HL and ALCL. It is incumbent upon the pathologist to distinguish between these two clinicopathologic entities, since treatment options and clinical outcomes differ.
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PMID:CD30-positive T-cell lymphomas co-expressing CD15: an immunohistochemical analysis. 1252 29

In the literature, sufficient attention has not been paid to the precise subcellular localization of immunohistochemical signals, the knowledge of which is essential for proper interpretation of immunostains and distinction of genuine staining from biotin-associated or other nonspecific stainings. The subcellular localization of the signals can in fact be easily deduced from the known biologic or ultrastructural characteristics of the antigens. Extracellular antigens obviously are located in the extracellular compartment. Cellular antigens fall into 3 major groups: membranous, nuclear, and cytoplasmic. Membranous antigens include cell adhesion molecules (such as E-cadherin, N-CAM), cell surface/transmembrane receptors and proteins (such as tyrosine kinase receptors, most leukocyte antigens, CD10, CEA), and molecules linking surface molecules to cytoskeleton (such as beta-catenin, dystrophin). Nuclear antigens include cell cycle-associated proteins (such as cyclins, p16, Ki-67), nuclear enzymes (such as TdT), transcription factors (such as TTF-1, CDX-2, myogenin, PAX-5), tumor suppressor gene products (such as p53, p63, WT1, Rb), steroid hormone receptors (such as ER, PR), calcium-binding proteins (such as S-100 protein, calretinin), and some viral proteins (such as CMV, herpes). Cytoplasmic antigens can take up a granular pattern due to localization in organelles, granules, or secretory vesicles (such as chromogranin, hormones, lysozyme, HMB-45), fibrillary pattern attributable to the filamentous nature of the molecules (intermediate filaments and microfilaments), or diffuse or patchy pattern due to localization in the cytosol or large vesicles (such as myoglobin, albumin, thyroglobulin). Aberrant localization of the molecules, when present, can provide important insight into disease processes and aid in their diagnosis, such as loss of membranous E-cadherin expression in lobular breast carcinoma, aberrant nuclear localization of beta-catenin in colorectal adenocarcinoma, pattern of ALK staining in anaplastic large cell lymphoma correlating with the different types of chromosomal translocations, presence of additional cytoplasmic CD10 staining in the enterocytes indicative of microvillous inclusion disease, and "reversed" staining for EMA in micropapillary mammary carcinoma.
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PMID:Subcellular localization of immunohistochemical signals: knowledge of the ultrastructural or biologic features of the antigens helps predict the signal localization and proper interpretation of immunostains. 1530 32

In spite of recent great advances in our understanding of both Hodgkin lymphoma (HL) and anaplastic large cell lymphoma (ALCL), occasionally there are CD30-positive large cell hematopoietic neoplasms, in which the morphologic and phenotypic features overlap to such an extent that they cannot easily be classified. We report a histologically unusual case of HL that mimicked ALCL, but had phenotypical characteristics of HL. The neoplastic cells resembling Reed-Sternberg cells or Hodgkin cells were mainly situated within sinusoidal spaces, which are characteristically seen in ALCL. However, they showed unequivocal expression of both CD30 and CD15, and no aberrant antigen expression to suggest ALCL (BSAP+, EMA-, LCA-, CD43-, CD2-, CD3-, CD4-, CD45RO-, ALK-, granzymeB-), with negative TCR gene rearrangement and no expression of EBV. HL with intrasinusoidal pattern has rarely been described, but we suggest that, although cases of HL with such a striking sinusoidal pattern are rare, nevertheless do exist. Since the identification of sinusoidal infiltration by CD30-positive neoplastic cells may lead to a mistaken view of ALCL, wide panel of antibodies should be used to confirm the diagnosis.
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PMID:Hodgkin lymphoma with unusual intrasinusoidal pattern of infiltration. 1537 Feb 61

Anaplastic large cell lymphoma (ALCL), CD30+, is a subtype of T-non-Hodgkin's lymphoma (NHL). Its most common form is a classical systemic type that involves multiple nodal and extranodal sites. In this study, morphologic, immunohistologic, and genetic studies were performed on ALCL cases in Pakistani patients. The median age of the patients in this study was 45 years (age range: 5-70 years), with a male to female ratio of 3.4:1. Thirty-seven (37) patients were diagnosed to have Ki-1 (CD30+) ALCL, which constituted 2% of all NHLs and 12.6% of all T-NHLs, over a period of 11 years (January 01, 1992-December 31, 2002). The tumors were of either T- or null-cell type with constant (100%) expression of CD30 (Ki-1). The majority of the cases (89.2%) expressed EMA, whereas 40.5% of the cases expressed either CD45 (LCA), CD45RO (UCHL1), or ALK. The mean age of ALCL patients with null-cell phenotype was 33.8 years as compared to those with T-cell phenotype having a mean age of 36.3 years. Out of the 37 cases diagnosed as ALCL, amplifiable DNA was isolated from 28 cases, which were further assessed for T-cell clonality for T-cell receptor (TCR)-beta, gamma, and immunoglobulin heavy chain (IgH) for the FR2 and FR3 regions. The polymerase chain reaction (PCR) technique demonstrated clonal rearrangement of the TCR beta, gamma, and IgH regions in 15 (53.6%), 11 (39.3%), and 2 (7.1%) ALCL cases, respectively, out of 28 cases. Association of Epstein-Barr virus (EBV) was noted in seven out of 28 cases (25%) of ALCL by PCR, whereas ISH for EBV-encoded nuclear RNA-1 (EBER-1) detected the presence of EBV in two (16.7%) out of 12 cases, where one was T-cell ALCL and the other null-cell ALCL. Immunostaining for LMP-1 could not be performed, because tissue material was not available. In conclusion, our study demonstrated that the prevalence of ALCL in Pakistan is comparable to that reported for some of the Asian communities and by the International Lymphoma Study Group and that EBV could be partly responsible for the pathogenesis of ALCL.
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PMID:Prevalence and characterization of anaplastic large cell lymphoma and its association with Epstein-Barr virus in Pakistani patients. 1564 4

Anaplastic large cell lymphoma (ALCL) was first described by Stein et al. in 1985, at that time neoplastic cells were labeled by the monoclonal antibody CD30. ALCL was included as a differentiate entity in the reviewed Kiel and REAL classification. ALCL carries the t (2; 5) (p23; q35) translocation; the absence of ALK kinase from normal lymphoid cells indicates that immunohistochemical expression of ALK is specific for the (2; 5) translocation. This disease is characterized by a diffuse proliferation of large anaplastic cells with kidney-shaped/horse-shoe nuclei. A distinguishing feature is a perinuclear eosinophilic region that represents a prominent Golgi apparatus. These cells are named hallmark-cells being almost pathognomonic. Immunohistochemically the most important features are that tumor cells consistently express CD30 and EMA on the cell membrane and in the Golgi region, while ALK immunostaining is usually both, cytoplasmic and nuclear. To our knowledge only two cases of primary ALCL of the testis have been reported. Hereby we present a case of a typical ALCL expressing ALK and CD30, which presented with subcutaneous nodules and bilateral testicular mass, without systemic involvement.
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PMID:Primary anaplastic large cell lymphoma of the testis. 1578 13

Only two karyotypes of perineurioma have previously been reported, 46XX,del(10)(q22q24),der(10),del(22)(q11-12q?)/47, idem,+der(10) (in a sclerosing perineurioma of the finger) and 45,XX,add(14)(p13),-22,add(22)(q11.2) (in an intraneural perineurioma). We investigated the clinicopathologic and cytogenetic findings in four consecutive perineuriomas in children, including two small (< or =1 cm) digital sclerosing perineuriomas, a 2-cm intraneural perineurioma, and a 16-cm abdominal soft tissue perineurioma. All lesions showed plump perineurial cells in a complex whorled configuration. Immunohistochemical (strong EMA immunostaining in all cases) and ultrastructural (in three of three lesions examined) evidence of perineurial differentiation was present. The sclerosing perineuriomas showed 46,XY,t(2;10)(p23;q24) and 47,XX,add(3)(q23),add(6)(q21),-5,-9,-10,-22,+mar1,+mar2,+mars; the intraneural tumor showed 46,XX,add(2)(q11.2),add(3)(q12); and the abdominal soft tissue perineurioma showed 46,XX,t(8;9)(q13;q22). Metaphase FISH analysis for an ALK gene rearrangement in the sclerosing perineurioma with t(2;10) was negative; the ALK signal remained on the der(2). We conclude that perineuriomas display mostly simple karyotypes, characterized by one or few chromosomal rearrangements or numerical changes. In conjunction with the previously published sclerosing perineurioma karyotypes, the findings of chromosome 10 aberrations, t(2;10)(p23;q24) and monosomy 10 in two sclerosing perineuriomas, indicate that rearrangements and/or deletions of 10q are a consistent finding in this variant of perineurioma. The findings also expand previous assertions that chromosome 22 abnormalities are pathogenetic in perineurioma and suggest that diverse genetic tumorigenic mechanisms may exist, possibly depending on the subtype.
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PMID:Cytogenetic aberrations in perineurioma: variation with subtype. 1609 5

A 40-year-old previously healthy lady presented with nasal obstruction and localized plaques over the right arm. She developed complete nasal obstruction due to a mass in the right nasal cavity and skin lesions that ulcerated to present as ecthyma gangrenosum like lesions. Patient's condition deteriorated fast and she developed icterus with fatal outcome within 4 weeks of developing skin lesions. Nasal and skin biopsy revealed angiocentric T-cell lymphoma, which on immuno-phenotyping revealed CD-3 positive; and CD-20, CD-30, ALK and EMA negativity. She was seronegative for HIV. Final diagnosis of CD-3 positive extranodal T-cell lymphoma of nasal type was made. Extranodal T-cell lymphomas are very aggressive NHLs with poor prognosis. Prognosis depends on histology, stage of the disease and sites of involvement. NK/T cell lymphoma of nasal type is common with EBV association. Skin involvement is rare and is also an indicator of poor prognosis.
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PMID:CD-3 positive extranodal T-cell lymphoma of nasal type with skin involvement. 1676 37


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