The identification of those genes that are frequently mutated in malignancies is essential for a full understanding of the molecular pathogenesis of these disorders, and often for the provision of markers for the study of disease progression. Recently, mutation of the ASXL1 (additional sex combs 1) gene has been reported in 4 out of 35 patients (11%) with myelodysplastic syndromes (MDS) and in 17 out of 39 patients (43%) with chronic myelomonocytic leukemia (CMML), a disease classified as MDS/myeloproliferative disorder.

Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia.

MALCOVATI, LUCA;DELLA PORTA, MATTEO GIOVANNI;CAZZOLA, MARIO;
2010-01-01

Abstract

The identification of those genes that are frequently mutated in malignancies is essential for a full understanding of the molecular pathogenesis of these disorders, and often for the provision of markers for the study of disease progression. Recently, mutation of the ASXL1 (additional sex combs 1) gene has been reported in 4 out of 35 patients (11%) with myelodysplastic syndromes (MDS) and in 17 out of 39 patients (43%) with chronic myelomonocytic leukemia (CMML), a disease classified as MDS/myeloproliferative disorder.
2010
The Hematology category covers resources concerned with blood, blood-forming tissues, bone marrow, plasma, and transfusions. Coverage also includes resources on specialties such as hemophilia, leukemia, and lymphoma.
Esperti anonimi
Inglese
Internazionale
STAMPA
24
5
1062
1065
4
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K Leukemia Society of America.; Leukaemia Research Fund. NLM Title Abbreviation:Leukemia ISSN:0887-6924 (Print) ; 1476-5551 (Electronic) ; 0887-6924 (Linking) 2000- : London : Nature Publishing Group, Specialist Journals Currently indexed for MEDLINE
Myelodysplastic syndrome; ASXL1; Acute myeloid leukemia
http://www.nature.com/leu/journal/v24/n5/full/leu201020a.html
16
info:eu-repo/semantics/article
262
Boultwood, J; Perry, J; Pellagatti, A; Fernandez Mercado, M; Fernandez Santamaria, C; Calasanz, Mj; Larrayoz, Mj; Garcia Delgado, M; Giagounidis, A; M...espandi
1 Contributo su Rivista::1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/226084
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