Genes (33)
Species: human : 32 mouse : 1 | |
Mouse | HIP1 | 3092 | huntingtin interacting protein 1 | It has been shown previously that the Huntingtin interacting protein 1 gene (HIP1) was fused to the platelet-derived growth factor beta receptor gene (PDGFbetaR) in leukemic cells of a patient with chronic myelomonocytic leukemia. In addition, a fusion between HIP1 and platelet-derived growth factor beta receptor causes chronic myelomonocytic leukemia. | Human | MVP | 9961 | major vault protein | The strongest LRP overexpression was also found in chronic myelomonocytic leukemia (four cases), reactive monocytosis (three cases) and in a dendritic cell line. | Human | CD163 | 9332 | CD163 molecule | Among hematopoietic disorders and nonhematopoietic neoplasms, CD163 expression was restricted largely to cases of chronic myelomonocytic leukemia, histiocytic sarcoma, sinus histiocytosis with massive lymphadenopathy, and littoral cell angioma. | Human | IL32 | 9235 | interleukin 32 | Dysregulation of IL-32 in myelodysplastic syndrome and chronic myelomonocytic leukemia modulates apoptosis and impairs NK function | Human | RABEP1 | 9135 | rabaptin, RAB GTPase binding effector protein 1 | A patient with CMML carrying the rabaptin-5-PDGFbetaR fusion gene underwent allogeneic stem cell transplantation (SCT) and was monitored closely with a sensitive reverse transcriptase-polymerase chain assay to detect the novel fusion gene transcript. Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia. | Human | SPN | 6693 | sialophorin | We found decreased expression of CD43 on the monocytes of the RA, RAS, RAEB, and RAEB-t patients compared with the CMML and controls. | Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | Our results indicate that PTPN11 lesions might play a role in adult MDS/CMML pathogenesis but do not represent a major molecular event. Here, we investigated contribution of PTPN11 mutations to adult MDS and CMML pathogenesis. Mutations are rare in adult myelodysplastic syndromes and chronic myelomonocytic leukemia Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia. | Human | PROS1 | 5627 | protein S (alpha) | However, the patient suffered in addition to a protein S deficiency from an antiphosphospholipid syndrome and a chronic myelomonocytic leukaemia. | Human | SERPINB10 | 5273 | serpin peptidase inhibitor, clade B (ovalbumin), member 10 | Protease inhibitor 10 (PI10) is a member of the ovalbumin family of serine protease inhibitors (ov-serpin) that is expressed at elevated levels in patients with acute myeloid leukemia and chronic myelomonocytic leukemia. Blood from patients with chronic myeloid leukemia (n = 6), chronic myelomonocytic leukemia (n = 6), acute myeloid leukemia (n = 5), and acute lymphocytic leukemia (n = 5) exhibited low to medium levels of bomapin expression. | Human | PDGFRB | 5159 | platelet-derived growth factor receptor, beta polypeptide | Gene rearrangement found in a case of underlying chronic myelomonocytic leukaemia in Noonan Syndrome TEL-induced oligomerization is shown to be essential for the constitutive activation of the protein kinase activity and mitogenic properties of TEL-platelet derived growth factor receptor beta (PDGFR beta), a fusion oncoprotein characteristic of the leukemic cells of chronic myelomonocytic leukemia harboring a t(5;12) chromosomal translocation. Imatinib mesylate is also a potent inhibitor of PDGFR kinase and is currently being evaluated for the treatment of chronic myelomonocytic leukemia and glioblastoma multiforme, based upon evidence in these diseases of activating mutations in PDGFR. Translocation t(5;12)(q33;p13), resulting in an ETV6/PDGFRB gene fusion, is a recurrent chromosomal abnormality associated with chronic myelomonocytic leukemia (CMML). | Human | PDGFB | 5155 | platelet-derived growth factor beta polypeptide | Seven of 24 samples obtained from patients with either CML or chronic myelomonocytic leukemia expressed a normal 4.0-kilobase (kb) c-sis transcript. | Human | NUP98 | 4928 | nucleoporin 98kDa | In this report, we describe the unique occurrence of t(7;11)(p15;p15) and NUP98/HOXA9 fusion in a patient with chronic myelomonocytic leukemia, and suggest that the genetic lesion may involve multipotential myeloid stem cells. Chronic myelomonocytic leukemia with t(7;11)(p15;p15) and NUP98/HOXA9 fusion. | Human | MPL | 4352 | myeloproliferative leukemia virus oncogene | In CMML, there was no correlation between c-mpl expression and any prognostic factor tested, nor with the course of the disease. In the cases with myelodysplastic syndrome, c-mpl is expressed in a substantial fraction of refractory anemia with excess of blast (RAEB), RAEB in transformation, and chronic myelomonocytic leukemia cells, but not in refractory anemia or sideroblastic anemia. In CMML patients, no correlation was found between c-mpl expression and any prognostic factor tested, nor with the course of the disease. Among the myelodysplastic syndromes (MDS), MPL expression was detected in one third of the cases, in particular in refractory anemia with excess of blasts and chronic myelomonocytic leukemia. In contrast 11/26 (42%) patients with refractory anemia with excess of blasts (RAEB), or with RAEB in transformation (RAEBt), and 8/18 (44%) patients with chronic myelomonocytic leukemia (CMML) expressed c-mpl. In myelodysplasia, c-mpl expression was elevated in 44% of chronic myelomonocytic leukemia (CMML), 42% of refractory anemia with excess myeloblasts (RAEB), and RAEB in transformation to acute leukemia (RAEBt), but not in refractory anemia (RA) and RA with ringed sideroblasts (RARS). | Human | MLL | 4297 | | secondary hematopoietic malignancies involving MLL confirms secondary chronic myelomonocytic leukemia is associated with t(9;11) | Human | KIT | 3815 | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | 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. | Human | KDR | 3791 | kinase insert domain receptor (a type III receptor tyrosine kinase) | However, monocytoid precursors in chronic myelomonocytic leukemia (CMML) expressed VEGF in an intense cytoplasmic pattern with membranous co-expression of the Flt-1 or KDR receptors, or both. | Human | JAK2 | 3717 | Janus kinase 2 | V617F mutation is observed also in acute and chronic myeloid malignancies (acute myeloid leukemia and chronic myelomonocytic leukemia | Human | HOXA9 | 3205 | homeobox A9 | Chronic myelomonocytic leukemia with t(7;11)(p15;p15) and NUP98/HOXA9 fusion. In this report, we describe the unique occurrence of t(7;11)(p15;p15) and NUP98/HOXA9 fusion in a patient with chronic myelomonocytic leukemia, and suggest that the genetic lesion may involve multipotential myeloid stem cells. | Human | HIP1 | 3092 | huntingtin interacting protein 1 | We have previously reported that the Huntingtin interacting protein 1 (HIP1) gene is fused to the platelet-derived growth factor beta receptor (PDGFbetaR) gene in a patient with chronic myelomonocytic leukemia. We report the fusion of the Huntingtin interactin protein 1 (HIP1) gene to the platelet-derived growth factor betareceptor (PDGFbetaR) gene in a patient with chronic myelomonocytic leukemia (CMML) with a t(5;7)(q33;q11.2) translocation. Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2). INTERPRETATION AND CONCLUSIONS: Although imatinib represents an attractive therapeutic agent for neoplasias associated with abnormal PDGFRbeta signaling, the low frequency of the TEL/PDGFRbeta and Hip1/PDGFRbeta fusion proteins in CMML suggests that its application to this disease maybe limited. | Human | FRA16B | 2461 | fragile site, distamycin A type, rare, fra(16)(q22.1) | Although FRA16B was detected only in PBLs from two healthy subjects who had been previously treated for non-Hodgkin;s lymphoma (NHL), both cell types displayed FRA16B in a patient with chronic myelomonocytic leukemia (CMMoL). | Human | FLT1 | 2321 | fms-related tyrosine kinase 1 | However, monocytoid precursors in chronic myelomonocytic leukemia (CMML) expressed VEGF in an intense cytoplasmic pattern with membranous co-expression of the Flt-1 or KDR receptors, or both. | Human | F11 | 2160 | coagulation factor XI | A 75-year-old female known to have a chronic myelomonocytic leukaemia and an acquired FXI deficiency (FXI level, 5%) related to a FXI inhibitor (38 Bethesda units) was admitted to the hospital for acute pneumonia associated with a bulky pleural effusion. The present report concerns one such inhibitor found in the plasma of a patient with chronic myelomonocytic leukaemia and infected by B19 parvovirus, who was neither a heterozygote nor a homozygote for FXI deficiency, and who had no bleeding tendency despite a very low FXI level. | Human | CSF1R | 1436 | colony stimulating factor 1 receptor | FMS mutations were most prevalent (20%) in chronic myelomonocytic leukemia and AML type M4 (23%), both of which are characterized by monocytic differentiation. Interestingly, RAS and FMS mutations are predominantly observed in disorders of myelomonoctic differentiation, i.e., the CMML subtype in MDS and the AML FAB type M4. Mutation of c-FMS is also more common in CMML in comparison to other MDS subtypes and, as yet, point mutation potentiating the response of the receptor to CSF-1 (codon 969) has been found more frequently than point mutation resulting in permanently activated receptor (codon 301). FMS expression was detected on both monocytes and B lymphocytes from all samples analysed, including 14 haematologically normal individuals and 31 patients (23 in remission following cytotoxic therapy for lymphoma, six with B-cell chronic lymphocytic leukaemia and two with chronic myelomonocytic leukaemia). | Human | CD38 | 952 | CD38 molecule | The data obtained show that (1) immunophenotypic clustering partly discriminates patients with refractory anemia with excess blasts/refractory anemia with excess blasts in transformation (RAEB/RAEB-T), chronic myelomonocytic leukemia (CMML), and refractory anemia/refractory anemia with ring sideroblasts (RA/RARS) for CD45(lo) blast cells and patients with RA/CMML, RARS, and RAEB/RAEB-T for CD45(hi)/side scatter(hi) (SS(hi)) granulocytes; (2) the most discriminating markers were CD16, CD34, CD36, CD38, CD71, and HLA-DR for blast cells and CD11b, CD13, CD33, CD36, CD38, CD71, and HLA-DR for CD45(hi)/SS(hi) granulocytes; (3) clusters related to CD34 expression were associated with high levels of blast cells on BM smear; (4) clusters related to high levels of CD36 expression on CD45(lo) blast cells and CD45(hi)/SS(hi) granulocytes were associated with a poor International Prognosis Scoring System score; and (5) high levels of CD71 expression on CD45(hi)/SS(hi) granulocytes were associated with the RARS category. | Human | CD36 | 948 | CD36 molecule (thrombospondin receptor) | The data obtained show that (1) immunophenotypic clustering partly discriminates patients with refractory anemia with excess blasts/refractory anemia with excess blasts in transformation (RAEB/RAEB-T), chronic myelomonocytic leukemia (CMML), and refractory anemia/refractory anemia with ring sideroblasts (RA/RARS) for CD45(lo) blast cells and patients with RA/CMML, RARS, and RAEB/RAEB-T for CD45(hi)/side scatter(hi) (SS(hi)) granulocytes; (2) the most discriminating markers were CD16, CD34, CD36, CD38, CD71, and HLA-DR for blast cells and CD11b, CD13, CD33, CD36, CD38, CD71, and HLA-DR for CD45(hi)/SS(hi) granulocytes; (3) clusters related to CD34 expression were associated with high levels of blast cells on BM smear; (4) clusters related to high levels of CD36 expression on CD45(lo) blast cells and CD45(hi)/SS(hi) granulocytes were associated with a poor International Prognosis Scoring System score; and (5) high levels of CD71 expression on CD45(hi)/SS(hi) granulocytes were associated with the RARS category. |
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