Patient-derived induced pluripotent stem cells recapitulate hematopoietic abnormalities of juvenile myelomonocytic leukemia

Blood

Volumn 121, Issue 24, 2013, Pages 4925-4929

  Gandre Babbe, Shilpa ^a   Paluru, Prasuna ^a   Aribeana, Chiaka ^b   Chou, Stella T ^a   Bresolin, Silvia ^c   Lu, Lin ^a   Sullivan, Spencer K ^a   Tasian, Sarah K ^a   Weng, Julie ^d   Favre, Helene ^d   Choi, John K ^e   French, Deborah L ^a   Loh, Mignon L ^d   Weiss, Mitchell J ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF PADOVA   (Italy)

^d UNIVERSITY OF CALIFORNIA   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN TYROSINE PHOSPHATASE SHP 2; STAT5 PROTEIN; PROTEIN TYROSINE PHOSPHATASE 1B; PTPN1 PROTEIN, HUMAN;

ARTICLE; BONE MARROW CELL; CELL DIFFERENTIATION; CELL PROLIFERATION; CONTROLLED STUDY; ENZYME INHIBITION; ENZYME PHOSPHORYLATION; HUMAN; HUMAN CELL; IN VITRO STUDY; JUVENILE MYELOMONOCYTIC LEUKEMIA; MALE; MISSENSE MUTATION; PHARMACOLOGICAL BLOCKING; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; CANCER STEM CELL; CLINICAL TRIAL; COHORT ANALYSIS; DRUG EFFECT; FEMALE; GENETICS; HETEROZYGOTE; METABOLISM; PATHOLOGY; PHOSPHORYLATION; TUMOR CELL CULTURE;

CELL DIFFERENTIATION; COHORT STUDIES; EXTRACELLULAR SIGNAL-REGULATED MAP KINASES; FEMALE; GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR; HETEROZYGOTE; HUMANS; INDUCED PLURIPOTENT STEM CELLS; LEUKEMIA, MYELOMONOCYTIC, JUVENILE; MALE; MUTATION, MISSENSE; NEOPLASTIC STEM CELLS; PHOSPHORYLATION; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 1; STAT5 TRANSCRIPTION FACTOR; TUMOR CELLS, CULTURED;

MLCS; MLOWN;

EID: 84881286879     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-01-478412     Document Type: Article

References (25)

1. Niemeyer CM, Kratz CP. Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options. Br J Haematol. 2008;140(6):610-624. (Pubitemid 351300914)
2. 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. (Pubitemid 40053113)
3. 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.
4. Emanuel PD, Bates LJ, Castleberry RP, Gualtieri RJ, Zuckerman KS. Selective hypersensitivity to granulocyte-macrophage colony-stimulating factor by juvenile chronic myeloid leukemia hematopoietic progenitors. Blood. 1991;77(5):925-929.
5. Liu X, Sabnis H, Bunting KD, Qu CK. Molecular targets for the treatment of juvenile myelomonocytic leukemia. Adv Hematol. 2012;2012:308252.
6. Lyubynska N, Gorman MF, Lauchle JO, Hong WX, Akutagawa JK, Shannon K, Braun BS. A MEK inhibitor abrogates myeloproliferative disease in Kras mutant mice. Sci Transl Med. 2011;3(76):76ra27.
7. Loh ML. Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia. Br J Haematol. 2011;152(6):677-687.
8. Chang T, Krisman K, Theobald EH, et al. Sustained MEK inhibition abrogates myeloproliferative disease in Nf1 mutant mice. J Clin Invest. 2013;(1):335-339.
9. Somers A, Jean JC, Sommer CA, et al. Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette. Stem Cells. 2010;28(10):1728-1740.
10. Kennedy M, D'Souza SL, Lynch-Kattman M, Schwantz S, Keller G. Development of the hemangioblast defines the onset of hematopoiesis in human ES cell differentiation cultures. Blood. 2007;109(7):2679-2687. (Pubitemid 46482058)
11. Chou ST, Byrska-Bishop M, Tober JM, et al. Trisomy 21-associated defects in human primitive hematopoiesis revealed through induced pluripotent stem cells. Proc Natl Acad Sci USA. 2012;109(43):17573-17578.
12. Tasian SK, Doral MY, Borowitz MJ, et al. Aberrant STAT5 and PI3K/mTOR pathway signaling occurs in human CRLF2-rearranged B-precursor acute lymphoblastic leukemia. Blood. 2012;120(4):833-842.
13. Kotecha N, Flores NJ, Irish JM, et al. Single-cell profiling identifies aberrant STAT5 activation in myeloid malignancies with specific clinical and biologic correlates. Cancer Cell. 2008;14(4):335-343.
14. Yoshida Y, Yamanaka S. Recent stem cell advances: induced pluripotent stem cells for disease modeling and stem cell-based regeneration. Circulation. 2010;122(1):80-87.
15. Panopoulos AD, Belmonte JC. Induced pluripotent stem cells in clinical hematology: potentials, progress, and remaining obstacles. Curr Opin Hematol. 2012;19(4):256-260.
16. Schubbert S, Lieuw K, Rowe SL, et al. Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells. Blood. 2005;106(1):311-317. (Pubitemid 40967207)
17. Chan RJ, Leedy MB, Munugalavadla V, Voorhorst CS, Li Y, Yu M, Kapur R. Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor. Blood. 2005;105(9):3737-3742. (Pubitemid 40628224)
18. Keilhack H, David FS, McGregor M, Cantley LC, Neel BG. Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. J Biol Chem. 2005;280(35):30984-30993. (Pubitemid 41291831)
19. Polo JM, Liu S, Figueroa ME, et al. Cell type of origin influences the molecular and functional properties of mouse induced pluripotent stem cells. Nat Biotechnol. 2010;28(8):848-855.
20. Nishio N, Takahashi Y, Tanaka M, et al. Aberrant phosphorylation of STAT5 by granulocyte-macrophage colony-stimulating factor in infant cytomegalovirus infection mimicking juvenile myelomonocytic leukemia. Leuk Res. 2011;35(9):1261-1264.
21. Ye Z, Zhan H, Mali P, et al. Human-induced pluripotent stem cells from blood cells of healthy donors and patients with acquired blood disorders. Blood. 2009;114(27):5473-5480.
22. Park IH, Arora N, Huo H, et al. Disease-specific induced pluripotent stem cells. Cell. 2008;134(5):877-886.
23. Maclean GA, Menne TF, Guo G, Sanchez DJ, Park IH, Daley GQ, Orkin SH. Altered hematopoiesis in trisomy 21 as revealed through in vitro differentiation of isogenic human pluripotent cells. Proc Natl Acad Sci USA. 2012;109(43):17567-17572.
24. Chang CJ, Bouhassira EE. Zinc-finger nuclease-mediated correction of α-thalassemia in iPS cells. Blood. 2012;120(19):3906-3914.
25. Carette JE, Pruszak J, Varadarajan M, et al. Generation of iPSCs from cultured human malignant cells. Blood. 2010;115(20):4039-4042.