Posted by rob on March 28, 2010 under Uncategorized | 
A V530I Mutation in c-KIT Exon 10 Is Associated to Imatinib Response in Extraabdominal Aggressive Fibromatosis.
Sarcoma. 2010;2010:458156
Authors: Kurtz JE, Asmane I, Voegeli AC, Neuville A, Dufresne A, Litique V, Chevreau C, Bergerat JP
Aggressive fibromatosis (AF) or desmoid tumor is a rare condition, characterized by deep tissue invasion by a monoclonal fibroblastic neoplasm, developed from musculoaponeurotic structures. Surgery is the treatment of choice, but negative margins can hardly been achieved in large tumors, and can lead to major functional disability. AF medical therapy includes nonsteroids anti-inflammatory drugs, tamoxifen, with inconsistent results. Several reports of imatinib efficacy in AF appear in the literature. Here, we describe for the first time a V530I KIT exon 10 mutant that was associated to a dramatic imatinib response in an extraabdominal aggressive fibromatosis. The previously discovered V530I substitution was characterized in the core binding factor AML, but had never been reported in any other condition, so far. In this paper, we discuss the KIT exon 10 mutations or polymorphisms that have been described in a variety of KIT-related conditions, including acute myelogenous leukemia, mastocytosis, and aggressive fibromatosis.
PMID: 20339585 [PubMed - in process]
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The Wnt/beta-catenin pathway is required for the development of leukemia stem cells in AML.
Science. 2010 Mar 26;327(5973):1650-3
Authors: Wang Y, Krivtsov AV, Sinha AU, North TE, Goessling W, Feng Z, Zon LI, Armstrong SA
Leukemia stem cells (LSCs) are capable of limitless self-renewal and are responsible for the maintenance of leukemia. Because selective eradication of LSCs could offer substantial therapeutic benefit, there is interest in identifying the signaling pathways that control their development. We studied LSCs in mouse models of acute myelogenous leukemia (AML) induced either by coexpression of the Hoxa9 and Meis1a oncogenes or by the fusion oncoprotein MLL-AF9. We show that the Wnt/beta-catenin signaling pathway is required for self-renewal of LSCs that are derived from either hematopoietic stem cells (HSC) or more differentiated granulocyte-macrophage progenitors (GMP). Because the Wnt/beta-catenin pathway is normally active in HSCs but not in GMP, these results suggest that reactivation of beta-catenin signaling is required for the transformation of progenitor cells by certain oncogenes. beta-catenin is not absolutely required for self-renewal of adult HSCs; thus, targeting the Wnt/beta-catenin pathway may represent a new therapeutic opportunity in AML.
PMID: 20339075 [PubMed - in process]
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[Complex cytogenetic aberrations in a patient with chronic myeloid leukemia: a case report]
Tsitol Genet. 2009 May-Jun;43(3):48-54
Authors: Luk’ianova AS, Pien’kovs’ka-Hrelia B, Masliak ZV
In this article is presented a case of multiple chromosomal aberrations in a patient with CML accelerated phase. Cytogenetic and molecular cytogenetic studies allowed us to determine the presence of t(9;22)(q34;q11) and to identify additional abnormalities such as t(1;2)(p36;p21), del (6)(q21), +del(8)(q22), del(18)(q21), +der (22), some of which are not typical for this kind of neoplasia. This case is compared with publications of the same cases. Our data suggested that detected changes can be correlated with previous treatment regimens and the influence of these changes on progression of disease is discussed.
PMID: 19938637 [PubMed - indexed for MEDLINE]
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Description of a new BCR-ABL point mutation in a CML patient with evolution to lymphoid blast crisis.
Leuk Res. 2010 Apr;34(4):e106-7
Authors: Hokama PO, Capannacci J, Hokama NK, Cliquet MG, Souza MP, Mauad MA, Colturato VA
PMID: 19931180 [PubMed - indexed for MEDLINE]
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A thrombocytosis occurring in Philadelphia positive CML in molecular response to imatinib can reveal an underlying JAK2(V617F) myeloproliferative neoplasm.
Leuk Res. 2010 Apr;34(4):e94-6
Authors: Véronèse L, Tchirkov A, Richard-Pebrel C, Ledoux-Pilon A, Fleury J, Chaleteix C, Goumy C, Gouas L, Berger MG, Vago P, Bay JO, Tournilhac O
PMID: 19833389 [PubMed - indexed for MEDLINE]
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Isolated CNS relapse of CML after bone marrow transplantation.
Leuk Res. 2010 Apr;34(4):e113-4
Authors: Thomas A, Stein CK, Gentile TC, Shah CM
PMID: 19811825 [PubMed - indexed for MEDLINE]
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Major molecular response achieved with dasatinib in a CML patient with F317L BCR-ABL kinase domain mutation.
Leuk Res. 2010 Apr;34(4):e91-3
Authors: Faber E, Mojzikova R, Plachy R, Rozmanova S, Stastny M, Divoka M, Jarosova M, Indrak K, Divoky V
PMID: 19811824 [PubMed - indexed for MEDLINE]
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Chronic myeloid leukemia: a disease of youth in Brazil.
Leuk Res. 2010 Apr;34(4):542-4
Authors: de Campos MG, Arantes Ade M, de Oliveira JS, Chauffaille Mde L
PMID: 19796814 [PubMed - indexed for MEDLINE]
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