Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report herein a case of extramedullary myeloid tumor arising bilaterally in the testes of a 66-year-old man, who had previously been diagnosed with myelodysplastic syndrome. Light microscopy of the testicular neoplasm demonstrated a tumor composed of large, slightly polygonal cells with pale blue to weakly eosinophilic cytoplasm. The tumor cells were immunoreactive for CD45, myeloperoxidase, lysozyme, CD43, and MB2. Many of the cells also expressed chloroacetate esterase. Peripheral blood and bone marrow findings were consistent with chronic myelomonocytic leukemia (FAB-CMML), particularly in the most recent material, which showed clear cellular dysplasia and an increase in the percentage of blasts in the bone marrow (15% to 20% of all nucleated cells). This case of extramedullary myeloid tumor is unusual in view of the patient's age and the testicular location. It emphasizes the importance of including extramedullary myeloid tumor in the differential diagnosis of histologically undifferentiated large-cell tumors, as well as a need to use a broad panel of immunohistochemical stains in such cases.
 ...
PMID:Testicular extramedullary myeloid cell tumor in a patient with myelodysplastic syndrome. 861 53

We report two cases of marginal zone B-cell lymphoma in two patients 6 and 18 years of age, respectively (cases 1 and 2) who had no clinical evidence of immunodeficiency or risk factors for human immunodeficiency virus (HIV) infection. Histologic analysis in both cases revealed diffuse nodal effacement by a monotonous population of atypical lymphoid cells with abundant pale cytoplasm and round to oval nuclei, with very infrequent mitotic activity. The neoplastic cells in both cases were of B-cell lineage (CD20 and CD79a positive), with CD43 coexpression. One case showed monoclonal light chain expression, and polymerase chain reaction analysis demonstrated clonal rearrangements of the immunoglobulin heavy chain gene in both cases. Abnormal cytogenetic findings were detected in case 2, in which metaphase spreads revealed trisomy 13 (karyotype 47, XY, +13). Although trisomy 13 has been described in association with acute nonlymphocytic leukemias and myelodysplastic syndromes, this case represents the first documented association of trisomy 13 with marginal zone B-cell lymphoma. Interphase cytogenetics analysis for trisomy 3, reported to be associated with mucosa-associated lymphoid tissue (MALT) lymphomas, was negative in both cases. Although low-grade lymphomas of the MALT type have been reported in HIV-positive patients, the two cases reported here are unique in that they occurred in young patients without HIV infection or any other evidence of immunodeficiency.
 ...
PMID:Marginal zone B-cell lymphoma with monocytoid B-cell lymphocytes in pediatric patients without immunodeficiency. A report of two cases. 898 Mar 74

We report the cases of two men, aged 48 and 71 years, with granulocytic sarcoma of the testis. Both presented with left testicular swelling and underwent orchiectomy, which revealed cream-colored to yellow-tan, rubbery-to-firm, testicular tumors with extensive paratesticular spread. The tumor in the younger patient was composed of a uniform population of primitive cells with scant cytoplasm and was initially misinterpreted as malignant lymphoma. Staging revealed no extrascrotal spread. The patient was treated with radiation and chemotherapy and remained free of disease for 12 years, at which time he died of unrelated causes. The older patient had a history of a myelodysplastic syndrome. His tumor contained cells with bright eosinophilic, occasionally granular cytoplasm, consistent with myeloid lineage. Because of a prominent component of myelocytes, with round, eccentric nuclei and moderately abundant cytoplasm, and because of an associated chronic inflammatory cell infiltrate that contained mature plasma cells, the tumor was initially misinterpreted as a plasmacytoma, although it was reinterpreted as a granulocytic sarcoma before initiation of therapy. Tumor cells in both cases were positive with a chloroacetate esterase stain. Immunohistochemical staining revealed expression of myeloperoxidase, lysozyme, leukocyte common antigen, and CD43, but not of B-cell-specific or T-cell-specific antigens in both cases. Granulocytic sarcomas are apt to be misinterpreted as other hematolymphoid tumors, which may result in a significant error in management. The diagnosis should at least be thought of any time the diagnosis of malignant lymphoma or plasmacytoma of the testis is being considered.
 ...
PMID:Granulocytic sarcoma of the testis: a report of two cases of a neoplasm prone to misinterpretation. 911 Feb 93

We report a case of extramedullary myeloid cell tumor of the urinary bladder in an elderly male with a three year history of myelodysplastic syndrome (refractory anemia with excess blasts), noninvasive papillary transitional cell carcinoma of the urinary bladder, and in situ transitional cell carcinoma of the left ureter. Light microscopy demonstrated a poorly differentiated neoplasm composed of medium to large cells with eosinophilic cytoplasm. The tumor cells showed immunohistochemical expression of myeloperoxidase, lysozyme, CD15, CD68 and CD43. Bone marrow examination following cystectomy demonstrated refractory anemia with excess blasts (6-10%) and a normal karyotype. Cytogenetics, approximately 1 year after cystectomy, demonstrated a deletion of the short arm of chromosome number 12. Four years after presentation, the patient succumbed to pulmonary aspergillosis.
 ...
PMID:Extramedullary myeloid cell tumor of the urinary bladder in a patient with myelodysplastic syndrome. 1054 34

CD43 (leukosialin, sialophorin) is a cell surface mucin expressed at high levels on most leukocytes and is reported to be involved in adhesion, anti-adhesion, and signal transduction prodders. Regulation of its expression is thought to take place through methylation of the DNA in the nonproducing cells, and the methylation inhibitor 5-azacytidine induces expression of the sialophorin gene. Here we report three cases of patients with myelodysplastic syndromes in which acquired severe deficiency of the CD43 antigen on the surface of most hemopoietic cells was observed. Peripheral blood mononuclear (PBMC) cells from 32 MDS patients and 20 healthy individuals were analyzed by flow cytometry after labeling with an anti-CD43 (DF-T1) monoclonal antibody. In 1 patient with refractory anemia with excess of blasts (RAEB) and 2 patients with refractory anemia with excess of blasts in transformation (RAEB-t), the percentages of CD43(+) PBMC were 3.8%, 6%, and 9.9%, respectively. The deficiency was observed at protein and RNA level as confirmed by western and southern blot, while analysis of the DNA by single-strand conformation polymorphism and sequencing did not reveal any difference in the gene sequence between the CD43(+) and CD43(-) cells of these patients. It is known that patients with MDS may have normal and dysplastic population of hemopoietic cells. Further studies are needed to reveal the mechanism of downregulation of the gene in these 3 patients and whether the phenomenon is related to the dysplastic population only or not.
 ...
PMID:Downregulation of CD43 in RAEB and RAEB-T patients. Report of 3 cases. 1060 63

CD43, a sialylated glycoprotein expressed on the surface of most hematopoietic cells, has been implicated in cell adhesion and signaling. The reduced expression of this antigen in patients with Wiscott-Aldrich syndrome, in which progressive immunodeficiency is a major problem, raised the question whether abnormal expression of this molecule could affect the susceptibility to infections in patients with myelodysplastic syndromes (MDS). We studied the expression of this antigen on the monocytes of ten patients with chronic myelomonocytic leukemia (CMML) and compared the results with 67 patients suffering from other MDS syndromes and with 18 healthy individuals. We chose this series as it plays an important role in MDS patients where in most cases the neutrophils are defective. We also examined the following antigens as indicative of activation and adhesion of the monocytes in these patients: CD11b, CD18, CD35, CD38, CD44, CD69. We found decreased expression of CD43 on the monocytes of the RA, RAS, RAEB, and RAEB-t patients compared with the CMML and controls. The other activation molecules studied were found to be upregulated, suggesting the existence of activated monocytes in these patients. The increased levels of soluble vascular cell adhesion molecule in these patients suggest vascular endothelial activation in the absence of infection. Further experiments are needed to investigate the significance of CD43 downregulation in these patients, its role in cell adherence and tissue migration, and the correlation of the phenomenon to the increased susceptibility to infections observed in these patients.
 ...
PMID:Aberrant expression of the major sialoglycoprotein (CD43) on the monocytes of patients with myelodysplastic syndromes. 1083 7

CD43 (also known as leukosialin and sialophorin) is a surface sialoglycoprotein expressed at high levels on most leukocytes implicated in adhesion, antiadhesion, and activation/proliferation mechanisms. We studied the expression of this molecule on the leukocytes of patients with myelodysplastic syndromes (MDSs) in an effort to detect acquired deficiencies of this molecule. We used immunofluorescence flow cytometry in analyzing whole blood and isolated neutrophils from 49 MDS patients, 33 men and 16 women aged 33 to 85 years (median, 75 years), and 18 healthy individuals aged 35 to 80 years (median, 72 years). According to French-American-British classification criteria, 13 patients had refractory anemia, 18 had refractory anemia with ringed sideroblasts, 9 had refractory anemia with excess of blasts, 4 had refractory anemia with excess of blasts in transformation to acute leukemia, and 5 had chronic myelomonocytic leukemia. We found decreased expression of CD43 on the neutrophils of these patients, and we correlated this finding with the activation status of these cells as it is defined by their phenotypes. We studied the expression of CD11b, CD18, CD35, CD67, CD69, CD44, and CD53 molecules known to be changed in the activated form of neutrophils. CD43 expression correlated positively with CD53 and CD44 expression and negatively with CD11b, CD18, CD35, CD67, and CD69 expression. Additionally, increased levels of soluble vascular cell adhesion molecules were detected in these patients, suggesting endothelial cell activation. In conclusion, we believe that the decreased expression of CD43 on the neutrophils of MDS patients is associated with activation of these cells and is probably due to cleavage of the molecule from the cell surface and that the same mechanism is possibly responsible for the parallel down-regulation of CD44 and CD53.
 ...
PMID:Reduced CD43 expression on the neutrophils of MDS patients correlates with an activated phenotype of these cells. 1150 63

Myelodysplastic syndromes (MDS) are associated with cell maturation defects that can manifest as abnormal surface antigen expression. We describe a patient with refractory anemia with excess blasts, who presented with infection and extensive dysplastic features in peripheral blood granulocytes. The granulocytes expressed CD11b, CD13, CD15, CD33, and CD43. The granulocytes also expressed CD4 antigen. Cytogenetic analysis showed a clonal t(5;12)(q33;p13). The patient improved on antibiotics with partial improvement in the dysplastic features. However, shortly after, the patient experienced paravertebral extramedullary blast transformation followed by a leukemia phase of acute monoblastic leukemia. The patient died a few days later. This is the first report describing anomalous expression of CD4 on granulocytes in MDS. Since the breakpoint on chromosome 12 is near the CD4 gene, which is mapped to 12p12, we hypothesize that dysregulation of the CD4 gene may have occurred resulting in its persistent expression on mature and maturing granulocytes.
 ...
PMID:Expression of CD4 on peripheral blood granulocytes. a novel finding in a case of myelodysplastic syndrome in association with t(5;12). 1216 49

Extramedullary myeloblastic tumors, so-called myelosarcomas (granulocytic sarcomas, chloromas) have been reported only sporadically in the pertinent literature which reflects their rather infrequent occurrence. These lesions may accompany the initial manifestation or signal relapse of acute myeloid leukemia (AML) or coincide with blastic transformation of a chronic myeloproliferative disorder. However, even more rarely, primary myelosarcomas may precede AML by months or years or may be associated with myelodysplastic syndromes (MDS) that never progress to manifest leukemia. In a retrospective evaluation a clinicopathological study on these latter two variants of isolated extramedullary manifestations of AML was performed to elucidate certain aspects of site involvement and histopathology by application of enzyme and immunohistochemistry. For this reason, we selected 6 patients presenting with a myelosarcoma in combination with MDS and 12 patients revealing only uncharacteristic reactive changes of the bone marrow. Of these patients 8 developed AML following an observation time of up to 2 years. Focal leukemic infiltrates were most often localized in the skin ( n=4), oral mucosa ( n=4), lymph nodes ( n=3), gastrointestinal tract ( n=3) or pleura and retroperitoneum ( n=3 each). Myelosarcomas were usually regarded by the clinicians as putative malignant lymphomas unless further evaluation, especially involving chloroacetate esterase reactions as well as immunostaining with a panel of antibodies reactive with lysozyme, myeloperoxidase, CD68, CD43, CD56, CD117 and CD34 proved their true nature. Although at that time bone marrow findings were inconclusive, a straightforward diagnosis was reached by considering the possibility of a (primary) myelosarcoma in these patients.
 ...
PMID:[Extramedullary initial manifestations of acute myeloid leukemia (AML)]. 1243 91

CD43 is a sialylated glycoprotein expressed on the surface of most haemopoietic cells and has been implicated in cell adhesion and signaling. It has previously been shown that CD43 expression is altered in patients with myelodysplastic syndrome (MDS). This raised the question of whether the alteration is associated with transfusions in these patients. We studied the expression of this antigen on peripheral blood leucocytes in two groups of patients with refractory anaemia, 22 transfused and 20 non-transfused. We found decreased expression of CD43 on the monocytes and neutrophils of patients receiving transfusions. Other activation molecules were studied (CD11b, CD18) and were found up-regulated suggesting the existence of activated leucocytes in these patients. The increased levels of soluble vascular cellular endothelial molecule after transfusions in these patients suggested vascular endothelial activation in the absence of infection. Given together, these results show that decreased CD43 in the transfused group of MDS patients is associated with an activated endothelial phenotype.
 ...
PMID:Alterations of CD43 expression in transfusion-dependent myelodysplastic syndromes. 1652 13


1 2 Next >>