Concomitant germ-line RUNX1 and acquired ASXL1 mutations in a T-cell acute lymphoblastic leukemia

European Journal of Haematology

Volumn 91, Issue 3, 2013, Pages 277-279

  Prebet, Thomas ^a,b   Carbuccia, Nadine ^b   Raslova, Hana ^c   Favier, Rémi ^c   Rey, Jerome ^b   Arnoulet, Christine ^b   Vey, Norbert ^a,b   Vainchenker, William ^c   Birnbaum, Daniel ^b   Mozziconacci, Marie Joelle ^b  

^a AIX MARSEILLE UNIVERSITY   (France)

^b INSTITUT PAOLI CALMETTES   (France)

^c INSTITUT GUSTAVE ROUSSY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; CD33 ANTIGEN; CYTARABINE; IDARUBICIN; MICROSOMAL AMINOPEPTIDASE; STEROID; TRANSCRIPTION FACTOR RUNX1;

ACUTE LYMPHOBLASTIC LEUKEMIA; ADULT; ASXL1 GENE; BONE MARROW EXAMINATION; BRAIN HEMORRHAGE; CANCER CHEMOTHERAPY; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME 13Q; CHROMOSOME 5Q; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILY HISTORY; FEMALE; FEVER; GENE; GENE MUTATION; GENOME ANALYSIS; GERM LINE; HUMAN; IMMUNOPHENOTYPING; INDUCTION CHEMOTHERAPY; LETTER; LEUKEMIA REMISSION; LEUKOCYTE COUNT; MAINTENANCE THERAPY; MALE; OUTCOME ASSESSMENT; PRIORITY JOURNAL; RUNX1 GENE; T CELL ACUTE LYMPHOBLASTIC LEUKEMIA; THROMBOCYTOPENIA; TREATMENT PLANNING;

ADULT; CHROMOSOME MAPPING; COMPARATIVE GENOMIC HYBRIDIZATION; CORE BINDING FACTOR ALPHA 2 SUBUNIT; GERM-LINE MUTATION; HUMANS; MALE; PEDIGREE; PRECURSOR T-CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; REPRESSOR PROTEINS;

EID: 84881668456     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/ejh.12147     Document Type: Letter

References (13)

1. Ding L, Ley T, Larson DE, et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature 2012;481:506-10.
2. Welch JS, Ley TJ, Link DC, et al. The origin and evolution of mutations in acute myeloid leukemia. Cell 2012;150:264-78.
3. Zhang J, Ding L, Holmfeldt L, et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 2012;481:157-63.
4. Murati A, Brecqueville M, Devillier R, et al. Myeloid malignancies: mutations, models and management. BMC Cancer 2012;12:304.
5. Owen C, Barnett M, Fitzgibbon J. Familial myelodysplasia and acute myeloid leukaemia - a review. Br J Haematol 2008;140:123-32.
6. Bluteau D, Gilles L, Hilpert M, et al. Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia. Blood 2011;118:6310-20.
7. Adelaïde J, Finetti P, Bekhouche I, et al. Integrated profiling of basal and luminal breast cancers. Cancer Res 2007;67:11565-75.
8. Rocquain J, Carbuccia N, Trouplin V, et al. Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias. BMC Cancer 2010;10:401.
9. Gelsi-Boyer V, Brecqueville M, Devillier R, et al. Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases. J Hematol Oncol 2012;5:12.
10. Brecqueville M, Cervera N, Adelaïde J, et al. Mutations and deletions of the SUZ12 polycomb gene in myeloproliferative neoplasms. Blood Cancer J 2011;1:e33.
11. Duhoux FP, Ameye G, Montano-Almendras CP, et al. PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies. Br J Haematol 2012;156:76-88.
12. Preudhomme C, Renneville A, Bourdon V, et al. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood 2009;113:5583-7.
13. Quesada V, Conde L, Villamor N, et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet 2012;44:47-52.