The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acutelymphoblastic leukemia and confers a higher risk of relapse

Haematologica

Volumn 99, Issue 10, 2014, Pages e188-e192

  Bandapalli, Obul R ^a   Schuessele, Stephanie ^a   Kunz, Joachim B ^a   Rausch, Tobias ^b   Stütz, Adrian M ^b   Tal, Noa ^c   Geron, Ifat ^c,d   Gershman, Nava ^c   Izraeli, Shai ^c   Eilers, Juliane ^a   Vaezipour, Nina ^a   Kirschner Schwabe, Renate ^e   Hof, Jana ^e,f   von Stackelberg, Arend ^e   Schrappe, Martin ^g   Stanulla, Martin ^g,h   Zimmermann, Martin ^h   Koehler, Rolf ^a   Avigad, Smadar ⁱ   Handgretinger, Rupert ^j   Frismantas, Viktoras ^k   Bourquin, Jean Pierre ^k   Bornhauser, Beat ^k   Korbel, Jan O ^b   Muckenthaler, Martina U ^a   Kulozik, Andreas E ^a   more..

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^c TEL AVIV UNIVERSITY   (Israel)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^g UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^h HANNOVER MEDICAL SCHOOL   (Germany)

ⁱ SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^j UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^k UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

more..

Author keywords

Mutation; Pediatric T ALL; STAT5B

Indexed keywords

INTERLEUKIN 3; INTERLEUKIN 7; JANUS KINASE 1; MESSENGER RNA; NOTCH1 RECEPTOR; PHOSPHATIDYLINOSITOL 3, 4, 5 TRISPHOSPHATE 3 PHOSPHATASE; PREDNISONE; PROTEIN BCL 2; PROTEIN KINASE PIM 1; STAT3 PROTEIN; STAT5A PROTEIN; STAT5B PROTEIN; SUPPRESSOR OF CYTOKINE SIGNALING 2; UNCLASSIFIED DRUG; STAT5 PROTEIN;

ACUTE LYMPHOBLASTIC LEUKEMIA; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; CANCER RECURRENCE; CANCER RISK; CELL CULTURE; CELL PROLIFERATION; CELL VIABILITY; CHILD; CLINICAL TRIAL (TOPIC); CONTROLLED STUDY; DNA SEQUENCE; EVENT FREE SURVIVAL; FEMALE; FLUORESCENCE ACTIVATED CELL SORTING; GENE FREQUENCY; GENE MUTATION; GENETIC TRANSFECTION; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOPHENOTYPING; LETTER; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; PEDIATRICS; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRESCHOOL CHILD; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION; SCHOOL CHILD; T CELL ACUTE LYMPHOBLASTIC LEUKEMIA; TUMOR XENOGRAFT; WESTERN BLOTTING; GENETICS; MUTATION; PATHOLOGY; TUMOR RECURRENCE;

CHILD; CHILD, PRESCHOOL; HUMANS; MUTATION; NEOPLASM RECURRENCE, LOCAL; PRECURSOR T-CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; STAT5 TRANSCRIPTION FACTOR;

EID: 84907524562     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2014.104992     Document Type: Letter

References (15)

1. Shochat C, Tal N, Bandapalli OR, Palmi C, Ganmore I, te Kronnie G, et al. Gain-of-function mutations in interleukin-7 receptor-alpha (IL7R) in childhood acute lymphoblastic leukemias. J Exp Med. 2011;208(5):901-8.
2. Zenatti PP, Ribeiro D, Li W, Zuurbier L, Silva MC, Paganin M, et al. Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia. Nat Genet. 2011;43(10):932-9.
3. De Keersmaecker K, Atak ZK, Li N, Vicente C, Patchett S, Girardi T, et al. Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia. Nat Genet. 2013;45(2):186-90.
4. Kleppe M, Lahortiga I, El Chaar T, De Keersmaecker K, Mentens N, Graux C, et al. Deletion of the protein tyrosine phosphatase gene PTPN2 in T-cell acute lymphoblastic leukemia. Nat Genet. 2010;42(6):530-5.
5. Flex E, Petrangeli V, Stella L, Chiaretti S, Hornakova T, Knoops L, et al. Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. J Exp Med. 2008;205(4):751-8.
6. Rajala HL, Eldfors S, Kuusanmaki H, van Adrichem AJ, Olson T, Lagstrom S, et al. Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia. Blood. 2013;121(22):4541-50.
7. Kalender Atak Z, Gianfelici V, Hulselmans G, De Keersmaecker K, Devasia AG, Geerdens E, et al. Comprehensive analysis of transcriptome variation uncovers known and novel driver events in T-cell acute lymphoblastic leukemia. PLoS Genetics. 2013;9(12):e1003997.
8. Kontro M, Kuusanmaki H, Eldfors S, Burmeister T, Andersson EI, Bruserud O, et al. Novel activating STAT5B mutations as putative drivers of T-cell acute lymphoblastic leukemia. Leukemia. 2014; March 21 [Epub ahead of print].
9. Breit S, Stanulla M, Flohr T, Schrappe M, Ludwig WD, Tolle G, et al. Activating NOTCH1 mutations predict favorable early treatment response and long-term outcome in childhood precursor T-cell lymphoblastic leukemia. Blood. 2006;108(4):1151-7.
10. Kox C, Zimmermann M, Stanulla M, Leible S, Schrappe M, Ludwig WD, et al. The favorable effect of activating NOTCH1 receptor mutations on long-term outcome in T-ALL patients treated on the ALL-BFM 2000 protocol can be separated from FBXW7 loss of function. Leukemia. 2010;24(12):2005-13.
11. Van Vlierberghe P, Palomero T, Khiabanian H, Van der Meulen J, Castillo M, Van Roy N, et al. PHF6 mutations in T-cell acute lymphoblastic leukemia. Nat Genet. 2010;42(4):338-42.
12. Bandapalli OR, Zimmermann M, Kox C, Stanulla M, Schrappe M, Ludwig WD, et al. NOTCH1 activation clinically antagonizes the unfavorable effect of PTEN inactivation in BFM-treated children with precursor T-cell acute lymphoblastic leukemia. Haematologica. 2013;98(6):928-36.
13. Ariyoshi K, Nosaka T, Yamada K, Onishi M, Oka Y, Miyajima A, et al. Constitutive activation of STAT5 by a point mutation in the SH2 domain. J Biol Chem. 2000;275(32):24407-13.
14. Hennighausen L, Robinson GW. Interpretation of cytokine signaling through the transcription factors STAT5A and STAT5B. Genes Dev. 2008;22(6):711-21.
15. Xi S, Zhang Q, Gooding WE, Smithgall TE, Grandis JR. Constitutive activation of Stat5b contributes to carcinogenesis in vivo. Cancer Res. 2003;63(20):6763-71.