Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.24.11 (CD10)
 9,792 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The majority of follicular lymphoma and Burkitt's lymphoma are associated with reciprocal translocations involving BCL2 and cMYC, respectively. Unusual reports of aggressive lymphoma presenting with both translocations have been described as well as rare cases with a third structural alteration usually involving BCL6. The patient described here presented with aggressive high-grade lymphocytic leukemia, FAB subtype L2 (ALL-L2), and three reciprocal translocations, t(14;18)(q32;q21), t(8;14)(q24.1;q32), and t(1;2) (q22-23;p13). Despite immature morphology the leukemic blasts had a mature B-cell phenotype; they were positive for surface immunoglobulin heavy chains and negative for CD34, TdT, and CD10. Most reported dual t(14;18)/t(8;14) cases have not shown sIg and were positive for CD10. Molecular genetic analyses showed the typical rearrangements of BCL2 and cMYC as well as the FCGR2B gene on chromosome 1q23. The occurrence of a third oncogene rearrangement in association with the dual BCL2, cMYC translocations in ALL patients is very rare. To our knowledge, this is the first case where the third hit involves the FCGR2B locus. This report reiterates the poor prognosis associated with activation of cMYC together with elevated Bcl-2 expression. These data also support recent evidence that dysregulation of FCGR2B may play a role in tumor progression.
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PMID:Case of acute lymphoblastic leukemia presenting with t(14;18)/BCL2, t(8;14)/cMYC, and t(1;2)/FCGR2B. 1450 97

SHP-2 is a protein tyrosine phosphatase functioning as signal transducer downstream to growth factor and cytokine receptors. SHP-2 is required during development, and germline mutations in PTPN11, the gene encoding SHP-2, cause Noonan syndrome. SHP-2 plays a crucial role in hematopoietic cell development. We recently demonstrated that somatic PTPN11 mutations are the most frequent lesion in juvenile myelomonocytic leukemia and are observed in a smaller percentage of children with other myeloid malignancies. Here, we report that PTPN11 lesions occur in childhood acute lymphoblastic leukemia (ALL). Mutations were observed in 23 of 317 B-cell precursor ALL cases, but not among 44 children with T-lineage ALL. In the former, lesions prevalently occurred in TEL-AML1(-) cases with CD19(+)/CD10(+)/cyIgM(-) immunophenotype. PTPN11, NRAS, and KRAS2 mutations were largely mutually exclusive and accounted for one third of common ALL cases. We also show that, among 69 children with acute myeloid leukemia, PTPN11 mutations occurred in 4 of 12 cases with acute monocytic leukemia (FAB-M5). Leukemia-associated PTPN11 mutations were missense and were predicted to result in SHP-2 gain-of-function. Our findings provide evidence for a wider role of PTPN11 lesions in leukemogenesis, but also suggest a lineage-related and differentiation stage-related contribution of these lesions to clonal expansion.
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PMID:Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. 1498 69

Mature B-cell acute lymphoblastic leukemia (ALL) is typically associated with the FAB-L3 morphology and rearrangement of the MYC gene, features characteristic of the leukemic phase of Burkitt's lymphoma. However, the term 'mature' has also been used to describe other rare cases of B-ALL with light-chain surface immunoglobulin expression. In contrast, infantile B-cell ALL is generally characterized by rearrangement of the MLL gene, an immature pro-B-cell phenotype, and CD10 negativity. We describe two unusual cases of infantile B-ALL with non-L3 morphology, expressing a mature B-cell phenotype (lambda sIg+, CD19+, CD10-, TdT-, and CD34-), and showing MLL rearrangement without MYC rearrangement at presentation. Both infants relapsed after months of morphologic and genetic remission. At relapse, the t(9;11) translocation was detected in both cases by spectral karyotyping. After the initial relapse, both cases followed a rapid and aggressive course. Literature search identified few similar cases, all expressed lambda surface immunoglobulin and showed MLL rearrangement (majority with the t(9;11) translocation). These cases show that B-ALL with MLL rearrangement, especially the t(9;11) translocation, can express a 'mature' B-cell phenotype and may represent a distinct subset. Identification of additional cases will further clarify the significance of MLL rearrangements in mature B-ALL.
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PMID:Mature B-cell acute lymphoblastic leukemia with t(9;11) translocation: a distinct subset of B-cell acute lymphoblastic leukemia. 1509 14

To investigate the immunological and other clinical characteristics in TEL/AML1+ childhood B-acute lymphoblastic leukemia (B-ALL), immunophenotyping was performed with three-color flow cytometry, and the expression of TEL-AML1 fusion gene was detected with nested RT-PCR. Diagnosis was made according to FAB and MIC criteria. The results showed that (1) among 119 children with B-ALL, 22 (18.5%) were TEL-AML1 positive and classified as L2 morphological subtype. In TEL-AML1+ group, positive rate and score of PAS, which were 65% and 121 respectively, were all higher than that of TEL-AML1- group (P < 0.05); (2) compared with TEL-AML1- group, no significant difference was found in age, gender, white cell count and blasts count in peripheral blood of TEL-AML1+; (3) in TEL-AML1+ group, 21 out of 22 (95.5%) were common ALL, as compared with TEL-AML1- group, the positive rate of CD13 was higher (59.1%, 13/22) and the positive rate of CD20 was lower (22.7%, 5/22) than that in TEL-AML1- group, respectively (P < 0.05), and the mean fluorescence index of CD10 and HLA-DR significantly increased to 92.80 and 53.61, respectively (P < 0.05). It is concluded that TEL-AML1 rearrangement is a frequent molecular abnormality in childhood ALL. Leukemic blasts with this anomaly have special immunophenotypic characteristics. These characteristics may be useful in detection of minimal residual leukemia.
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PMID:[Immunophenotypic characteristics of children with acute lymphoblastic leukemia carrying TEL-AML1 fusion gene]. 1692 6

AML-1/ETO fusion gene is the frequent genetic lesion described in FBA M(2) type acute myeloid leukemia (AML-M(2)) and is associated with a favourable prognosis. In spite of its potential clinical relevance, this subtype leukemia usually would be undetected with conventional cytology procedures, and easily confused with acute promyelocyte leukemia (APL) in morphology. In order to investigate the immunophenotypic characteristics of bone marrow cells in AML-M(2) patients with AML-ETO gene rearrangement classified by FAB, immunophenotype of bone marrow cells in 17 AML-M(2) patients with AML-1/ETO(+) confirmed by fluorescence in situ hybridization was analyzed by using flow cytometry as compared with immunophenotype in 34 APL patients with AML-1/ETO(-). The results showed that population of blast cells (15.89% - 68.53%) and population of more heterogeneous myeloid cells were detected with right-angle scatter in 17 patients with AML-1/ETO(+), i.e. AML-M(2) by FAB classification. The blast cells expressed stem cell associated antigens CD34, HLA-DR and myeloid antigens CD33, CD13, MPO. The mean fluorescent intensity of CD33 in M(2)/ETO(+) patients was significantly lower than that in APL patients (121 +/- 92 vs 845 +/- 523, P<0.001), meanwhile positive expression rates of HLA-DR, CD19 and CD34(+)CD56(+) in M(2)/ETO(+) patients were significantly higher than that in APL patients (100%, 88.24%, 100% vs 27.27%, 8.82%, 0%, P<0.001), expression rate of CD9 in M(2)/ETO(+) patients was significantly lower than that in APL patients (P<0.001). In patients with M(2)/ETO(+) (AML-M(2)), the pattern of CD15/CD11b expression was seen as granulocytic differentiation with immature events showing CD15(+)CD11b(-) and more mature CD15(+)CD11b(+) populations, the expression of mature granulocytes CD10 was negative and similar to APL in expression figure. The granulocytes expressed CD56 in 17 patients with M(2)/ETO(+) (17/17, 100%) and its expression rate was significantly higher than that in patients with M(3) (6/34, 17.56%). It is concluded that AML-M(2) with AML-1/ETO gene rearrangement was confirmed to express an exclusive immunophenotype that shows highly predictive value for the cytogenetic pattern, and the multiparametric flow cytometry with FISH provides a technical approach to easily distinguish leukemia subtype M(2)/ETO(+) from APL.
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PMID:[Immunophenotypic features of acute myeloid leukemia with AML-1/ETO fusion gene]. 1749 51

Burkitt's leukemia (BL) constitutes a small but important fraction of acute leukemias in children. It is an aggressive type of leukemia that is responsive to high-intensity, short-duration chemotherapy with complete remission possible in 75% to 90% of cases. The recognition and proper designation of BL is important because treatment differs from that of precursor B-cell acute lymphoblastic leukemia (pre-B ALL). Burkitt's leukemia is separated by its typical morphologic features (blasts with typical French-American-British [FAB] L-3 morphology compared to FAB L-1/L-2 morphology in pre-B ALL) and a classic immunophenotype (blast positivity for CD45 [bright], CD20 [bright], CD10, CD19, surface immunoglobulin [SIg], Ig light chain restriction, and negative terminal deoxynucleotidyl transferase [TdT]) compared to pre-B ALL blasts (which are positive for CD45 [dim], CD10, CD19, and TdT and negative for CD20 and SIg). The diagnosis of Burkitt's leukemia is confirmed by the characteristic cytogenetic findings.The combination of Burkitt's morphology with precursor B-cell immunophenotype may present a diagnostic pitfall, resulting in delay of proper management.We describe such an atypical case in a 12-year-old girl and emphasize that correct classification and treatment starts with proper morphologic/immunophenotypic correlation, and the awareness of the overlapping features in some cases.
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PMID:Burkitt's leukemia with an atypical immunophenotype: report of a case and review of literature. 2218 12

This article aimed to report two cases of Burkitt lymphoma/leukemia with concurrent t(8;14) and t(14;18). Morphology, immunophenotype, cytogenetics and molecular biology (MICM) methods were applied to diagnosis. The results showed that the two cases were both acute lymphocytic leukemia L3 type according to FAB criteria. Conventional cytogenetic technique or interphase fluorescence in situ hybridization (FISH) demonstrated that t(8;14) and t(14;18) were detected concurrently in both patients. CD20, CD10, FMC7, CD38 and CD19 were expressed in both patients by immunophenotyping. According to MICM, they were both diagnosed as Burkitt lymphoma/leukemia. The first patient died in one month after chemotherapy, and the second patient survived 19 months after rituximab- combined high-dose chemotherapy and subsequently allogeneic hematopoietic stem cell transplantation (HSCT). In conclusion, t(8;14) and t(14;18) may present simultaneously in Burkitt lymphoma/leukemia and indicate poor prognosis. Rituximab-combined chemotherapy and subsequently HSCT could improve the outcomes of such cases.
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PMID:[Characteristics of two cases of Burkitt lymphoma/leukemia with concurrent t(8;14) and t(14;18)]. 2239 Nov 73

A previously healthy eleven month old male Malay infant presented with fever, upper respiratory tract infection and right knee swelling. Pallor, bilateral proptosis, hepatosplenomegaly, multiple scalp swellings and a right cheek swelling were observed. Investigations revealed that he had acute monoblastic leukemia or FAB M5a. Immunophenotyping by flow cytometry showed that the blast cells were positive for CD45, CD13, CD33, HLA-DR, CDllc, CD71, EMA, and Cytokeratin. They were negative for CD34, CD19, CD10, CD22, CD2, CD3, CD4, CD7, CD8, CD61, NK, Glycophorin A, and CD14. The monoblasts were used to evaluate anti-EMA and anti-cytokeratin. They were unexpectedly found to be positive. Acute monoblastic leukaemias are well known to show extramedullary infiltration and this may be their primary mode of presentation. Thus, in immunochemostry, when using EMA and cytokeratin expression in the differential diagnosis of neoplastic diseases, it is important to consider that monoblasts may express these markers as illustrated by this case.
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PMID:Unexpected Epithelial Membrane Antigen (EMA) and Cytokeratin Expression in a Case of Infantile Acute Monoblastic Leukaemia. 2740 16


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