| pubmed-article:15729385 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15729385 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:15729385 | lifeskim:mentions | umls-concept:C0007634 | lld:lifeskim |
| pubmed-article:15729385 | lifeskim:mentions | umls-concept:C0080090 | lld:lifeskim |
| pubmed-article:15729385 | lifeskim:mentions | umls-concept:C0023480 | lld:lifeskim |
| pubmed-article:15729385 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:15729385 | lifeskim:mentions | umls-concept:C1274040 | lld:lifeskim |
| pubmed-article:15729385 | lifeskim:mentions | umls-concept:C1853118 | lld:lifeskim |
| pubmed-article:15729385 | lifeskim:mentions | umls-concept:C0205217 | lld:lifeskim |
| pubmed-article:15729385 | lifeskim:mentions | umls-concept:C0439661 | lld:lifeskim |
| pubmed-article:15729385 | lifeskim:mentions | umls-concept:C1514485 | lld:lifeskim |
| pubmed-article:15729385 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:15729385 | pubmed:dateCreated | 2005-4-29 | lld:pubmed |
| pubmed-article:15729385 | pubmed:abstractText | Severe congenital neutropenia (CN) is characterized by a maturation arrest of myelopoiesis at the promyelocyte stage. Treatment with pharmacological doses of recombinant human granulocyte colony-stimulating factor (rh-G-CSF) stimulates neutrophil production and decreases the risk of major infectious complications. However, approximately 15% of CN patients develop myeloid malignancies that have been associated with somatic mutations in the G-CSF receptor (G-CSFR) and RAS genes as well as with acquired monosomy 7. We report a CN patient with chronic myelomonocytic leukemia (CMML) who never received rh-G-CSF. Molecular analysis demonstrated a somatic G-CSFR mutation (C2390T), which led to expression of a truncated G-CSFR protein in the CMML. Normal G-CSFR expression was unexpectedly absent in primary and cultured CMML. In addition, CMML cells showed monosomy 7 and an oncogenic NRAS mutation. In vitro culture revealed a G-CSF-dependent proliferation of CMML cells, which subsequently differentiated along the monocytic/macrophage lineage. Our results provide direct evidence for the in vivo expression of a truncated G-CSFR in leukemic cells, which emerged in the absence of rh-G-CSF treatment and transduces proliferative signals. | lld:pubmed |
| pubmed-article:15729385 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15729385 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15729385 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15729385 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15729385 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15729385 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15729385 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15729385 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15729385 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:15729385 | pubmed:issn | 0887-6924 | lld:pubmed |
| pubmed-article:15729385 | pubmed:author | pubmed-author:ShannonKK | lld:pubmed |
| pubmed-article:15729385 | pubmed:author | pubmed-author:SchulzeHH | lld:pubmed |
| pubmed-article:15729385 | pubmed:author | pubmed-author:WelteKK | lld:pubmed |
| pubmed-article:15729385 | pubmed:author | pubmed-author:KratzCC | lld:pubmed |
| pubmed-article:15729385 | pubmed:author | pubmed-author:ReppRR | lld:pubmed |
| pubmed-article:15729385 | pubmed:author | pubmed-author:WilkensLL | lld:pubmed |
| pubmed-article:15729385 | pubmed:author | pubmed-author:BallmaierMM | lld:pubmed |
| pubmed-article:15729385 | pubmed:author | pubmed-author:GermeshausenM... | lld:pubmed |
| pubmed-article:15729385 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15729385 | pubmed:volume | 19 | lld:pubmed |
| pubmed-article:15729385 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15729385 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15729385 | pubmed:pagination | 611-7 | lld:pubmed |
| pubmed-article:15729385 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:15729385 | pubmed:meshHeading | pubmed-meshheading:15729385... | lld:pubmed |
| pubmed-article:15729385 | pubmed:meshHeading | pubmed-meshheading:15729385... | lld:pubmed |
| pubmed-article:15729385 | pubmed:meshHeading | pubmed-meshheading:15729385... | lld:pubmed |
| pubmed-article:15729385 | pubmed:meshHeading | pubmed-meshheading:15729385... | lld:pubmed |
| pubmed-article:15729385 | pubmed:meshHeading | pubmed-meshheading:15729385... | lld:pubmed |
| pubmed-article:15729385 | pubmed:meshHeading | pubmed-meshheading:15729385... | lld:pubmed |
| pubmed-article:15729385 | pubmed:meshHeading | pubmed-meshheading:15729385... | lld:pubmed |
| pubmed-article:15729385 | pubmed:meshHeading | pubmed-meshheading:15729385... | lld:pubmed |
| pubmed-article:15729385 | pubmed:meshHeading | pubmed-meshheading:15729385... | lld:pubmed |
| pubmed-article:15729385 | pubmed:meshHeading | pubmed-meshheading:15729385... | lld:pubmed |
| pubmed-article:15729385 | pubmed:meshHeading | pubmed-meshheading:15729385... | lld:pubmed |
| pubmed-article:15729385 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:15729385 | pubmed:articleTitle | An acquired G-CSF receptor mutation results in increased proliferation of CMML cells from a patient with severe congenital neutropenia. | lld:pubmed |
| pubmed-article:15729385 | pubmed:affiliation | Department of Pediatric Hematology and Oncology, Hannover Medical School, Germany. Germeshausen.Manuela@mh-hannover.de | lld:pubmed |
| pubmed-article:15729385 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15729385 | pubmed:publicationType | In Vitro | lld:pubmed |
| pubmed-article:15729385 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:15729385 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:15729385 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15729385 | lld:pubmed |
