Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: A report from the italian AIEOP study group

Oncotarget

Volumn 7, Issue 20, 2016, Pages 28914-28919

  Bresolin, Silvia ^a   De Filippi, Paola ^b   Vendemini, Francesca ^c   D'Alia, Mirko ^b   Zecca, Marco ^d   Meyer, Lueder H ^e   Danesino, Cesare ^b   Locatelli, Franco ^b   Masetti, Riccardo ^c   Basso, Giuseppe ^a   te Kronnie, Geertruy ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^e UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

JAK3; JMML; Murine model; SETBP1

Indexed keywords

CBL PROTEIN; JANUS KINASE 3; NEUROFIBROMIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; CARRIER PROTEIN; JAK3 PROTEIN, HUMAN; NUCLEAR PROTEIN; SETBP1 PROTEIN, HUMAN;

ADOLESCENT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CBL GENE; CHILD; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; ITALIAN (CITIZEN); JAK3 GENE; JUVENILE MYELOMONOCYTIC LEUKEMIA; MAJOR CLINICAL STUDY; MALE; MOUSE; MUTATIONAL ANALYSIS; NF1 GENE; NONHUMAN; ONCOGENE K RAS; ONCOGENE N RAS; OVERALL SURVIVAL; PROTEIN DOMAIN; PROTO ONCOGENE; PTPN11 GENE; SETBP1 GENE; SKI DOMAIN; ANIMAL; GENETICS; ITALY; MUTATION; PRESCHOOL CHILD; XENOGRAFT;

ANIMALS; CARRIER PROTEINS; CHILD, PRESCHOOL; FEMALE; HETEROGRAFTS; HUMANS; ITALY; JANUS KINASE 3; LEUKEMIA, MYELOMONOCYTIC, JUVENILE; MALE; MICE; MUTATION; NUCLEAR PROTEINS;

EID: 84969760884     PISSN: None     EISSN: 19492553     Source Type: Journal    
DOI: 10.18632/oncotarget.8016     Document Type: Article

References (21)

1. Niemeyer CM, Kratz CP. Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options. British journal of haematology. 2008; 140:610-624.
2. Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Sakamoto KM, Gorr TA, Mehta P, Schmid I, Kropshofer G, et al. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nature genetics. 2010; 42:794-800.
3. Loh ML. Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia. British journal of haematology. 2011; 152:677-687.
4. Sakaguchi H, Okuno Y, Muramatsu H, Yoshida K, Shiraishi Y, Takahashi M, Kon A, Sanada M, Chiba K, Tanaka H, Makishima H, Wang X, Xu Y, et al. Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. Nature genetics. 2013; 45:937-941.
5. Stieglitz E, Troup CB, Gelston LC, Haliburton J, Chow ED, Yu KB, Akutagawa J, Taylor-Weiner AN, Liu YL, Wang YD, Beckman K, Emanuel PD, Braun BS, et al. Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. Blood. 2015; 125:516-24.
6. Oakley K, Han Y, Vishwakarma BA, Chu S, Bhatia R, Gudmundsson KO, Keller J, Chen X, Vasko V, Jenkins NA, Copeland NG, Du Y. Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10. Blood. 2012; 119:6099-6108.
7. Minakuchi M, Kakazu N, Gorrin-Rivas MJ, Abe T, Copeland TD, Ueda K, Adachi Y. Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. European journal of biochemistry / FEBS. 2001; 268:1340-1351.
8. Trimarchi T, Ntziachristos P, Aifantis I. A new player SETs in myeloid malignancy. Nature genetics. 2013; 45:846-847.
9. Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A, Antolini L, Mologni L, Donadoni C, Papaemmanuil E, Schnittger S, Kim DW, Boultwood J, et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nature genetics. 2013; 45:18-24.
10. Damm F, Itzykson R, Kosmider O, Droin N, Renneville A, Chesnais V, Gelsi-Boyer V, de Botton S, Vey N, Preudhomme C, Clavert A, Delabesse E, Park S, et al. SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias. Leukemia. 2013; 27:1401-1403.
11. Thol F, Suchanek KJ, Koenecke C, Stadler M, Platzbecker U, Thiede C, Schroeder T, Kobbe G, Kade S, Loffeld P, Banihosseini S, Bug G, Ottmann O, et al. SETBP1 mutation analysis in 944 patients with MDS and AML. Leukemia. 2013; 27:2072-2075.
12. Makishima H, Yoshida K, Nguyen N, Przychodzen B, Sanada M, Okuno Y, Ng KP, Gudmundsson KO, Vishwakarma BA, Jerez A, Gomez-Segui I, Takahashi M, Shiraishi Y, et al. Somatic SETBP1 mutations in myeloid malignancies. Nature genetics. 2013; 45:942-946.
13. Inoue D, Kitaura J, Matsui H, Hou HA, Chou WC, Nagamachi A, Kawabata KC, Togami K, Nagase R, Horikawa S, Saika M, Micol JB, Hayashi Y, et al. SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS. Leukemia. 2015; 29:847-57.
14. Bergmann AK, Schneppenheim S, Seifert M, Betts MJ, Haake A, Lopez C, Maria Murga Penas E, Vater I, Jayne S, Dyer MJ, Schrappe M, Duhrsen U, Ammerpohl O, et al. Recurrent mutation of JAK3 in T-cell prolymphocytic leukemia. Genes, chromosomes and cancer. 2014; 53: 309-316.
15. Degryse S, de Bock CE, Cox L, Demeyer S, Gielen O, Mentens N, Jacobs K, Geerdens E, Gianfelici V, Hulselmans G, Fiers M, Aerts S, Meijerink JP, et al. JAK3 mutants transform hematopoietic cells through JAK1 activation, causing T-cell acute lymphoblastic leukemia in a mouse model. Blood. 2014; 124:3092-3100.
16. De Filippi P, Zecca M, Novara F, Lisini D, Maserati E, Pasquali F, Rosti V, Carlo-Stella C, Zavras N, Cagioni C, Zuffardi O, Pagliara D, Danesino C, et al. The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. Pediatr Blood Cancer. 2012; 59:580-2.
17. Stieglitz E, Taylor-Weiner AN, Chang TY, Gelston LC, Wang YD, Mazor T, Esquivel E, Yu A, Seepo S, Olsen SR, Rosenberg M, Archambeault SL, Abusin G, et al. The genomic landscape of juvenile myelomonocytic leukemia. Nature genetics. 2015; 47:1326-1333.
18. Caye A, Strullu M, Guidez F, Cassinat B, Gazal S, Fenneteau O, Lainey E, Nouri K, Nakhaei-Rad S, Dvorsky R, Lachenaud J, Pereira S, Vivent J, et al. Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network. Nature genetics. 2015; 47:1334-1340.
19. Sun Y, Ding L, Zhang H, Han J, Yang X, Yan J, Zhu Y, Li J, Song H, Ye Q. Potentiation of Smad-mediated transcriptional activation by the RNA-binding protein RBPMS. Nucleic acids research. 2006; 34:6314-6326.
20. Chan RJ, Cooper T, Kratz CP, Weiss B, Loh ML. Juvenile myelomonocytic leukemia: a report from the 2nd International JMML Symposium. Leukemia research. 2009; 33:355-362.
21. Bresolin S, Zecca M, Flotho C, Trentin L, Zangrando A, Sainati L, Stary J, de Moerloose B, Hasle H, Niemeyer CM, Te Kronnie G, Locatelli F, Basso G. Gene expression-based classification as an independent predictor of clinical outcome in juvenile myelomonocytic leukemia. Journal of clinical oncology. 2010; 28:1919-1927.