Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia

Blood

Volumn 125, Issue 3, 2015, Pages 516-524

  Stieglitz, Elliot ^a   Troup, Camille B ^b,k   Gelston, Laura C ^a   Haliburton, John ^c   Chow, Eric D ^d   Yu, Kristie B ^a   Akutagawa, Jon ^a   Taylor Weiner, Amaro N ^e   Liu, Y Lucy ^f   Wang, Yong Dong ^g   Beckman, Kyle ^a   Emanuel, Peter D ^f   Braun, Benjamin S ^a   Abate, Adam ^c   Gerbing, Robert B ^h   Alonzo, Todd A ⁱ   Loh, Mignon L ^a,j  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b BIO RAD LABORATORIES   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^f UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^g ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^h CHILDREN S ONCOLOGY GROUP   (United States)

ⁱ UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k NANOSTRING TECHNOLOGIES   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; CARRIER PROTEIN; NUCLEAR PROTEIN; SETBP1 PROTEIN, HUMAN;

ARTICLE; CANCER PROGNOSIS; CANCER SURVIVAL; CHILD; DNA EXTRACTION; EVENT FREE SURVIVAL; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; JUVENILE MYELOMONOCYTIC LEUKEMIA; MOLECULAR CLONING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SETBP1 GENE; CANCER STAGING; FEMALE; FOLLOW UP; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; MALE; MUTATION; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; PROGNOSIS; SURVIVAL RATE;

CARRIER PROTEINS; CHILD, PRESCHOOL; FEMALE; FOLLOW-UP STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; LEUKEMIA, MYELOMONOCYTIC, JUVENILE; MALE; MUTATION; NEOPLASM STAGING; NUCLEAR PROTEINS; PROGNOSIS; SURVIVAL RATE;

EID: 84926688835     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-09-601690     Document Type: Article

References (38)

1. Loh ML. Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia. Br J Haematol. 2011;152(6):677-687.
2. Dvorak CC, Loh ML. Juvenile myelomonocytic leukemia: molecular pathogenesis informs current approaches to therapy and hematopoietic cell transplantation. Front Pediatr. 2014;2:25.
3. Locatelli F, Nöllke P, Zecca M, et al; European Working Group on Childhood MDS; European Blood and Marrow Transplantation Group. Hematopoietic stem cell transplantation (HSCT) in children with juvenile myelomonocytic leukemia (JMML): results of the EWOG-MDS/EBMT trial. Blood. 2005;105(1):410-419.
4. Stieglitz E, Ward A, Gerbing R, et al. Phase II/III trial of a pre-transplant farnesyl transferase inhibitor in juvenile myelomonocytic leukemia: a report from the Children's Oncology Group [published online ahead of print December 8, 2014]. Pediatr Blood Cancer. doi:10.1002/pbc.25342.
5. Shannon KM, O'Connell P, Martin GA, et al. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med. 1994;330(9):597-601.
6. Flotho C, Valcamonica S, Mach-Pascual S, et al. RAS mutations and clonality analysis in children with juvenile myelomonocytic leukemia (JMML). Leukemia. 1999;13(1):32-37.
7. Tartaglia M, Niemeyer CM, Fragale A, et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet. 2003;34(2):148-150.
8. Loh ML, Vattikuti S, Schubbert S, et al. Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. Blood. 2004;103(6):2325-2331.
9. Flotho C, Kratz CP, Bergsträsser E, et al; European Working Group of Myelodysplastic Syndromes in Childhood. Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations. Blood. 2008;111(2):966-967, author reply 967-968.
10. Niemeyer CM, Kang MW, Shin DH, et al. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet. 2010;42(9):794-800.
11. Niemeyer CM, Arico M, Basso G, et al; European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS). Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases. Blood. 1997;89(10):3534-3543.
12. Matsuda K, Shimada A, Yoshida N, et al. Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. Blood. 2007;109(12):5477-5480.
13. Bresolin S, Zecca M, Flotho C, et al. Gene expression-based classification as an independent predictor of clinical outcome in juvenile myelomonocytic leukemia. J Clin Oncol. 2010;28(11):1919-1927.
14. Locatelli F, Crotta A, Ruggeri A, et al. Analysis of risk factors influencing outcomes after cord blood transplantation in children with juvenile myelomonocytic leukemia: a EUROCORD, EBMT, EWOG-MDS, CIBMTR study. Blood. 2013;122(12):2135-2141.
15. Sakaguchi H, Okuno Y, Muramatsu H, et al. Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. Nat Genet. 2013;45(8):937-941.
16. Shiba N, Ohki K, Park MJ, et al. SETBP1 mutations in juvenile myelomonocytic leukaemia and myelodysplastic syndrome but not in paediatric acute myeloid leukaemia. Br J Haematol. 2014;164(1):156-159.
17. Makishima H, Yoshida K, Nguyen N, et al. Somatic SETBP1 mutations in myeloid malignancies. Nat Genet. 2013;45(8):942-946.
18. Hindson BJ, Ness KD, Masquelier DA, et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem. 2011;83(22):8604-8610.
19. Miotke L, Lau BT, Rumma RT, Ji HP. High sensitivity detection and quantitation of DNA copy number and single nucleotide variants with single color droplet digital PCR. Anal Chem. 2014;86(5):2618-2624.
20. Taylor SD, Ericson NG, Burton JN, et al. Targeted enrichment and high-resolution digital profiling of mitochondrial DNA deletions in human brain. Aging Cell. 2014;13(1):29-38.
21. Abyzov A, Mariani J, Palejev D, et al. Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature. 2012;492(7429):438-442.
22. McDonald JC, Duffy DC, Anderson JR, et al. Fabrication of microfluidic systems in poly(dimethylsiloxane). Electrophoresis. 2000;21(1):27-40.
23. Eastburn DJ, Sciambi A, Abate AR. Identification and genetic analysis of cancer cells with PCR-activated cell sorting. Nucleic Acids Res. 2014;42(16):e128.
24. Park CY, Majeti R, Weissman IL. In vivo evaluation of human hematopoiesis through xenotransplantation of purified hematopoietic stem cells from umbilical cord blood. Nat Protoc. 2008;3(12):1932-1940.
25. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.
26. Kaplan EL, Meier P. Nonparametric-Estimation from Incomplete Observations. J Am Stat Assoc. 1958;53(282):457-481.
27. Cox DR. Regression models and life-tables. J R Stat Soc Series B Stat Methodol. 1972;34(2):187-220.
28. Castro-Malaspina H, Schaison G, Passe S, et al. Subacute and chronic myelomonocytic leukemia in children (juvenile CML). Clinical and hematologic observations, and identification of prognostic factors. Cancer. 1984;54(4):675-686.
29. Passmore SJ, Chessells JM, Kempski H, Hann IM, Brownbill PA, Stiller CA. Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia in the UK: a population-based study of incidence and survival. Br J Haematol. 2003;121(5):758-767.
30. Hoischen A, van Bon BW, Gilissen C, et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010;42(6):483-485.
31. Piazza R, Valletta S, Winkelmann N, et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet. 2013;45(1):18-24.
32. Cristóbal I, Blanco FJ, Garcia-Orti L, et al. SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia. Blood. 2010;115(3):615-625.
33. Janssens V, Goris J. Protein phosphatase 2A: a highly regulated family of serine/threonine phosphatases implicated in cell growth and signalling. Biochem J. 2001;353(Pt 3):417-439.
34. Junttila MR, Li SP, Westermarck J. Phosphatase-mediated crosstalk between MAPK signaling pathways in the regulation of cell survival. FASEB J. 2008;22(4):954-965.
35. Ory S, Zhou M, Conrads TP, Veenstra TD, Morrison DK. Protein phosphatase 2A positively regulates Ras signaling by dephosphorylating KSR1 and Raf-1 on critical 14-3-3 binding sites. Curr Biol. 2003;13(16):1356-1364.
36. Damm F, Itzykson R, Kosmider O, et al. SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias. Leukemia. 2013;27(6):1401-1403.
37. Meggendorfer M, Bacher U, Alpermann T, et al. SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations. Leukemia. 2013;27(9):1852-1860.
38. Yoshimi A, Mohamed M, Bierings M, et al. Second allogeneic hematopoietic stem cell transplantation (HSCT) results in outcome similar to that of first HSCT for patients with juvenile myelomonocytic leukemia. Leukemia. 2007;21(3):556-560.