Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.24.11 (CD10)
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We describe a patient with primary myelodysplastic syndrome (MDS) evolving into acute nonlymphocytic leukemia (ANLL) who had two cytogenetically unrelated abnormal clones. A 68-year-old man presented with refractory anemia with excess of blasts (RAEB) and developed overt ANLL. Two cytogenetically independent clones, one with 5q- and the other with 20q-, were observed when the patient developed ANLL. The clones carrying both 5q- and 20q- were not detected. Leukemic blast cells were positive for peroxidase, naphtol ASD chloroacetate esterase, CD13, CD33, CD34 and HLA-DR, but negative for alpha-naphthyl butyrate esterase, CD14, CD10, CD19, CD20, CD1, CD2, CD3, CD5 and CD7. Although there have been a few reports describing the presence of multiple cytogenetically unrelated clones in one patient with MDS, this is the first case report that the 5q- and 20q- anomalies are derived from independent clones.
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PMID:Two karyotypically unrelated clones with 5q- and 20q- in a primary myelodysplastic syndrome patient evolving into acute nonlymphocytic leukemia. 859 Jul 73

Morphologic, immunologic, cytogenetic, and clinical features were studied in 9 cases of acute undifferentiated leukemia (AUL). These patients were unclassifiable by FAB criteria, they were CD34+ and did not express myeloid- or lymphoid-associated antigens (CD13, CD33, CD14, CD15, CD61, CD19, CD10, CD22, CD7, CD2, CD5, CD3). Clonal abnormalities were seen in 8 of 9 cases. Del(5q) as the sole anomaly was observed in 3 cases; +13 was the primary change in 3 cases, and isolated trisomy 12 was found in 1 patient. A complex karyotype with trisomy 12q, in association with del 17p and trisomy 21q was detected in 1 case. One patient with 5q- relapsed with refractory anemia with excess of blasts; the presence of dysgranulopoiesis and a few blasts with possible monocytoid morphology in the remaining 2 patients point to a "myeloid nature" of these leukemias. Analysis of cytologic features in our 3 patients with +13, in combination with previously reported cases, suggests the occurrence of immature stem cell involvement with limited differentiation potential, possibly more along the myeloid than the lymphoid lineage. The significance of trisomy 12q in this subset of leukemia remains elusive; some clues of minimal differentiation towards the myeloid lineage in our cases are provided by positivity for the CD117 (c-kit) antigen and by relapse with acute myeloid leukemia without maturation (M1) in one patient. We conclude that, with presently available diagnostic techniques, AUL is a rare subset of leukemia, in which cytogenetic changes are confined to a few chromosomes, with prevalent involvement of 5q and of chromosomes 13 and 12. Chromosome findings may be of value in clinical practice, especially in those cases with "myeloid-oriented" karyotype.
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PMID:Cytogenetic and clinicobiological features of acute leukemia with stem cell phenotype: study of nine cases. 895 68

Knowledge of the blast phenotype in myelodysplastic syndrome (MDS) would be valuable, as in other malignancies, but remains sparse. This is mainly because MDS blasts are a minor population in clinical samples, making analysis difficult. Thus, for this blast phenotype study, we prepared blast-rich specimens (using a new density centrifugation reagent for harvesting blasts) from blood and marrow samples of 95 patients with various MDS subtypes and 21 patients with acute leukemia transformed from MDS (AL-MDS). Flow cytometry revealed that a high proportion of the enriched blast cells (EBCs) from almost all patients showed an immunophenotype of committed myeloid precursors (CD34(+)CD38(+)HLA-DR(+)CD13(+)CD33(+)), regardless of the disease subtype. The cytochemical reaction for myeloperoxidase was negative in 58% of the cases. Thus, the EBC phenotype is more immature in MDS than in de novo acute myeloid leukemia. MDS EBCs often coexpressed stem cell antigens and late-stage myeloid antigens asynchronously, but rarely expressed T- and B-lymphoid cell-specific antigens. Markers for myeloid cell maturation (CD10 and CD15) were more prevalent on EBCs from low-risk MDS (refractory anemia [RA] and RA with ringed sideroblasts), whereas markers for myeloid cell immaturity (CD7 and CD117) were more prevalent on EBCs from high-risk MDS (chronic myelomonocytic leukemia, RA with excess blasts [RAEB], and RAEB in transformation) and AL-MDS. A shift to a more immature phenotype of EBCs, accompanying disease progression, was also documented by sequential phenotyping of the same patients. Further, CD7 positivity of EBCs was an independent variable for a poor prognosis in MDS. These data represent new, valuable information regarding MDS.
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PMID:Clinical significance of phenotypic features of blasts in patients with myelodysplastic syndrome. 1239 41

It is often difficult to distinguish myelodysplastic syndrome (MDS) from aplastic anemia (AA) because of the considerable clinical, cytologic histologic similarities between these two disorders; however, distinguishing between AA and MDS is of great importance because there is a higher risk of progression to acute leukemia in patients with MDS compared with AA. Up to now, CD34(+) cells in MDS and AA patients have been studied extensively; however, little information is available on myeloid granulocytes. The aim of this study was to determine whether immunophenotype of myeloid granulocytes in AA patients was different from that of MDS. Flow cytometry was used to assess the immunophenotype of myeloid granulocytes in 22 patients with MDS, 12 with AA, and 10 normal subjects. Our data showed that the percentages of CD13(+) granulocytes, CD33(+) granulocytes, CD34(+) granulocytes, and HLA-DR(+) granulocytes were significantly higher in patients with MDS than in AA patients and normal subjects (P < 0.05). The percentages of CD15(+) granulocytes and CD10(+) granulocytes were significantly lower in patients with MDS than in AA patients and normal subjects (P < 0.05). There were no significant differences in the expression of these markers between patients with AA and normal subjects (P > 0.05). As refractory anemia progressing to refractory anemia with excess blasts, the percentages of CD13(+) granulocytes, CD33(+) granulocytes, CD34(+) granulocytes and HLA-DR(+) granulocytes were significantly increased, whereas, the percentage of CD15(+) granulocytes was significantly decreased (P < 0.05). These data suggest that immunophenotype of myeloid granulocytes may be a useful parameter for the differential diagnosis of MDS and AA.
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PMID:Immunophenotype of myeloid granulocytes: a pilot study for distinguishing myelodysplastic syndrome and aplastic anemia by flow cytometry. 1996 21

A retrospective analysis of 71 patients newly diagnosed with refractory cytopenia with unilineage dysplasia (RCUD) revealed that 12 developed refractory anemia with an excess of blasts or acute myeloblastic leukemia. Before the diagnosis of RCUD was made, phenotypes of cells in the bone marrow (BM) blast region were analyzed using flow cytometry. Patients with RCUD were divided into two groups ; those with no progression (Group A) and those with disease progression later on (Group B). The cell composition in the BM blast region differed significantly between the groups : Group A showed higher percentages of B lymphoid cells but lower percentages of myeloid cells. A cut-off value of 20 for the CD33/CD10 ratio in the BM blast region clearly separated Group A from Group B. These results suggest that cell composition in the BM blast region evaluated by flow cytometry may indicate the progression of RCUD.
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PMID:Prediction of progression from refractory cytopenia with unilineage dysplasia by analysis of bone marrow blast cell composition. 2270 33

Although numerous recent publications have demonstrated interest in multiparameter flow cytometry in the investigation of myelodysplastic disorders, it is perceived by many laboratory hematologists as difficult and expensive, requiring a high level of expertise. We report a multicentric open real-life study aimed at evaluating the added value of the technically simple flow cytometry score described by the Ogata group for the diagnosis of myelodysplastic syndromes. A total of 652 patients were recruited prospectively in four different centers: 346 myelodysplastic syndromes, 53 myelodysplastic/myeloproliferative neoplasms, and 253 controls. The Ogata score was assessed using CD45 and CD34 staining, with the addition of CD10 and CD19. Moreover, labeling of CD5, CD7 and CD56 for the evaluation of myeloid progenitors and monocytes was tested on a subset of 294 patients. On the whole series, the specificity of Ogata score reached 89%. Respective sensitivities were 54% for low-risk myelodysplastic syndromes, 68% and 84% for type 1 and type 2 refractory anemia with excess of blasts, and 72% for myelodysplastic/myeloproliferative neoplasms. CD5 expression was poorly informative. When adding CD56 or CD7 labeling to the Ogata score, sensitivity rose to 66% for low-risk myelodysplastic syndromes, to 89% for myelodysplastic/myeloproliferative neoplasms and to 97% for refractory anemia with excess of blasts. This large multicenter study confirms the feasibility of Ogata scoring in routine flow cytometry diagnosis but highlights its poor sensitivity in low-risk myelodysplastic syndromes. The addition of CD7 and CD56 in flow cytometry panels improves the sensitivity but more sophisticated panels would be more informative.
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PMID:Multicentric study underlining the interest of adding CD5, CD7 and CD56 expression assessment to the flow cytometric Ogata score in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. 2563 56