T-cell lymphoblastic leukemia in early childhood presents NOTCH1 mutations and MLL rearrangements

Leukemia Research

Volumn 34, Issue 4, 2010, Pages 483-486

  Mansur, Marcela Braga ^a   Emerenciano, Mariana ^a   Splendore, Alessandra ^a   Brewer, Lilian ^a   Hassan, Rocio ^a   Pombo de Oliveira, Maria S ^a  

^a INSTITUTO NACIONAL DE CÂNCER   (Brazil)

Author keywords

HOX11L2; MLL; NOTCH1; SIL TAL1; T cell acute lymphoblastic leukemia

Indexed keywords

CD135 ANTIGEN; HOX PROTEIN; MIXED LINEAGE LEUKEMIA PROTEIN; MOLECULAR MARKER; NOTCH1 RECEPTOR; TRANSCRIPTION FACTOR TAL1;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; BRAZIL; CHILD; CHILDHOOD CANCER; CLINICAL ARTICLE; CONTROLLED STUDY; EARLY CANCER; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; HUMAN; HUMAN CELL; INFANT; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; TUMOR DIFFERENTIATION;

CELL TRANSFORMATION, NEOPLASTIC; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; FEMALE; GENE REARRANGEMENT; GENES, T-CELL RECEPTOR DELTA; GENES, T-CELL RECEPTOR GAMMA; GENETIC TESTING; HUMANS; INFANT; MALE; MUTATION; MYELOID-LYMPHOID LEUKEMIA PROTEIN; PRECURSOR T-CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; RECEPTOR, NOTCH1;

EID: 76749167459     PISSN: 01452126     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.leukres.2009.06.026     Document Type: Article

References (30)

1. Biondi A., Cimino G., Pieters R., and Pui C.H. Biological and therapeutic aspects of infant leukemia. Blood 96 (2000) 24-33
2. Ford A.M., Ridge S.A., Cabrera M.E., et al. In utero rearrangements in the trithorax-related oncogene in infant leukaemias. Nature 363 (1993) 358-360
3. Fischer S., Mann G., Konrad M., et al. Screening for leukemia- and clone-specific markers at birth in children with T-cell precursor ALL suggests a predominantly postnatal origin. Blood 110 (2007) 3036-3038
4. Mansour M.R., Duke V., Foroni L., et al. Notch-1 mutations are secondary events in some patients with T-cell acute lymphoblastic leukemia. Clin Cancer Res 13 (2007) 6964-6969
5. Gale K.B., Ford A.M., Repp R., et al. Backtracking leukemia to birth: identification of clonotypic gene fusion sequences in neonatal blood spots. Proc Natl Acad Sci USA 94 (1997) 13950-13954
6. Greaves M.F., Maia A.T., Wiemels J.L., and Ford A.M. Leukemia in twins: lessons in natural history. Blood 102 (2003) 2321-2333
7. Ford A.M., Pombo-de-Oliveira M.S., McCarthy K.P., et al. Monoclonal origin of concordant T-cell malignancy in identical twins. Blood 89 (1997) 281-285
8. Eguchi-Ishimae M., Eguchi M., Kempski H., and Greaves M. NOTCH1 mutation can be an early, prenatal genetic event in T-ALL. Blood 111 (2008) 376-378
9. Pombo-de-Oliveira M.S., and Koifman S. Infant acute leukemia and maternal exposures during pregnancy. Cancer Epidemiol Biomarkers Prev 15 (2006) 2336-2341
10. Emerenciano M., Agudelo Arias D.P., Coser V.M., et al. Molecular cytogenetic findings of acute leukemia included in the Brazilian Collaborative Study Group of Infant acute leukemia. Pediatr Blood Cancer 47 (2006) 549-554
11. Emerenciano M., Menezes J., Vasquez M.L., et al. Clinical relevance of FLT3 gene abnormalities in Brazilian patients with infant leukemia. Leuk Lymphoma 49 (2008) 2291-2297
12. Bene M.C., Castoldi G., Knapp W., et al. Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL). Leukemia 9 (1995) 1783-1786
13. Parra F.C., Amado R.C., Lambertucci J.R., et al. Color and genomic ancestry in Brazilians. Proc Natl Acad Sci USA 100 (2003) 177-182
14. van Dongen J.J., Macintyre E.A., Gabert J.A., et al. Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 Concerted Action: investigation of minimal residual disease in acute leukemia. Leukemia 13 (1999) 1901-1928
15. Bernard O.A., Busson-LeConiat M., Ballerini P., et al. A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia. Leukemia 15 (2001) 1495-1504
16. Meyer C., Schneider B., Reichel M., et al. Diagnostic tool for the identification of MLL rearrangements including unknown partner genes. Proc Natl Acad Sci USA 102 (2005) 449-454
17. Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 (1988) 1215
18. Stefanoff C.G., Hassan R., Gonzalez A.C., et al. Laboratory strategies for efficient handling of paraffin-embedded tissues for molecular detection of clonality in non-hodgkin lymphomas. Diagn Mol Pathol (2003)
19. van Dongen J.J., Langerak A.W., Bruggemann M., et al. Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936. Leukemia 17 (2003) 2257-2317
20. Weng A.P., Ferrando A.A., Lee W., et al. Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia. Science 306 (2004) 269-271
21. Mansur M.B., Emerenciano M., Brewer L., et al. SIL-TAL1 fusion gene negative impact in T-cell acute lymphoblastic leukemia outcome. Leuk Lymphoma 26 (2009) 1-8 [Epub ahead of print]
22. Garand R., Voisin S., Papin S., et al. Characteristics of pro-T ALL subgroups: comparison with late T-ALL. The Groupe d'Etude Immunologique des Leucemies. Leukemia 7 (1993) 161-167
23. van G.M., Meijerink J.P., van Wering E.R., et al. Prognostic significance of molecular-cytogenetic abnormalities in pediatric T-ALL is not explained by immunophenotypic differences. Leukemia 22 (2008) 124-131
24. Ferrando A.A., Armstrong S.A., Neuberg D.S., et al. Gene expression signatures in MLL-rearranged T-lineage and B-precursor acute leukemias: dominance of HOX dysregulation. Blood 102 (2003) 262-268
25. De K.K., Marynen P., and Cools J. Genetic insights in the pathogenesis of T-cell acute lymphoblastic leukemia. Haematologica 90 (2005) 1116-1127
26. Grabher C., von Boehmer H., and Look A.T. Notch 1 activation in the molecular pathogenesis of T-cell acute lymphoblastic leukaemia. Nat Rev Cancer 6 (2006) 347-359
27. Chen J., Jette C., Kanki J.P., et al. NOTCH1-induced T-cell leukemia in transgenic zebrafish. Leukemia 21 (2007) 462-471
28. Pear W.S., Aster J.C., Scott M.L., et al. Exclusive development of T cell neoplasms in mice transplanted with bone marrow expressing activated Notch alleles. J Exp Med 183 (1996) 2283-2291
29. Mullighan C.G., Goorha S., Radtke I., et al. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature 446 (2007) 758-764
30. Zhu Y.M., Zhao W.L., Fu J.F., et al. NOTCH1 mutations in T-cell acute lymphoblastic leukemia: prognostic significance and implication in multifactorial leukemogenesis. Clin Cancer Res 12 (2006) 3043-3049