After 95 years, it's time to eRASe JMML
Tài liệu tham khảo
Cooper, 2000, Evidence that juvenile myelomonocytic leukemia can arise from a pluripotential stem cell, Blood, 96, 2310, 10.1182/blood.V96.6.2310
Miles, 1996, Patterns of hematopoietic lineage involvement in children with neurofibromatosis type 1 and malignant myeloid disorders, Blood, 88, 4314, 10.1182/blood.V88.11.4314.bloodjournal88114314
Scrideli, 2003, B lineage acute lymphoblastic leukemia transformation in a child with juvenile myelomonocytic leukemia, type 1 neurofibromatosis and monosomy of chromosome 7. Possible implications in the leukemogenesis, Leuk Res, 27, 371, 10.1016/S0145-2126(02)00178-9
1924, Z Kinderh, 38, 146, 10.1007/BF02224929
Niemeyer, 2019, Juvenile myelomonocytic leukemia: who's the driver at the wheel?, Blood, 33, 1060, 10.1182/blood-2018-11-844688
Chan, 2009, Juvenile myelomonocytic leukemia: a report from the 2nd International JMML Symposium, Leuk Res, 33, 355, 10.1016/j.leukres.2008.08.022
Niemeyer, 1997, Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS), Blood, 89, 3534
Locatelli, 2005, Hematopoietic stem cell transplantation (HSCT) in children with juvenile myelomonocytic leukemia (JMML): results of the EWOG-MDS/EBMT trial, Blood, 105, 410, 10.1182/blood-2004-05-1944
Yabe, 2015, Transplantation for juvenile myelomonocytic leukemia: a retrospective study of 30 children treated with a regimen of busulfan, fludarabine, and melphalan, Int J Hematol, 101, 184, 10.1007/s12185-014-1715-7
Locatelli, 2013, Analysis of risk factors influencing outcomes after cord blood transplantation in children with juvenile myelomonocytic leukemia: a EUROCORD, EBMT, EWOG-MDS, CIBMTR study, Blood, 122, 2135, 10.1182/blood-2013-03-491589
Niemela, 2011, Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis, Blood, 117, 2883, 10.1182/blood-2010-07-295501
Takagi, 2013, Autoimmunity and persistent RAS-mutated clones long after the spontaneous regression of JMML, Leukemia, 27, 1926, 10.1038/leu.2013.82
Honda, 2014, Clinical characteristics of 15 children with juvenile myelomonocytic leukaemia who developed blast crisis: MDS Committee of Japanese Society of Paediatric Haematology/Oncology, Br J Haematol, 165, 682, 10.1111/bjh.12796
Castro-Malaspina, 1984, Subacute and chronic myelomonocytic leukemia in children (juvenile CML). Clinical and hematologic observations, and identification of prognostic factors, Cancer, 54, 675, 10.1002/1097-0142(1984)54:4<675::AID-CNCR2820540415>3.0.CO;2-Q
Matsuda, 2007, Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations, Blood, 109, 5477, 10.1182/blood-2006-09-046649
Fukuda, 1997, Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome, J Pediatr Hematol Oncol, 19, 177, 10.1097/00043426-199703000-00019
O'Halloran, 2017, Transient juvenile myelomonocytic leukemia in the setting of PTPN11 mutation and Noonan syndrome with secondary development of monosomy 7, Pediatr Blood Cancer, 64, 10.1002/pbc.26408
Swerdlow, 2017, Vol. 2
Sakashita, 2016, Diagnosis and treatment of juvenile myelomonocytic leukemia, Pediatr Int, 58, 681, 10.1111/ped.13068
Locatelli, 2015, How I treat juvenile myelomonocytic leukemia, Blood, 125, 1083, 10.1182/blood-2014-08-550483
Arico, 1997, Juvenile myelomonocytic leukemia, Blood, 90, 479, 10.1182/blood.V90.2.479
Michael, 2012
de Vries, 2010, Molecular basis of juvenile myelomonocytic leukemia, Haematologica, 95, 179, 10.3324/haematol.2009.016865
Tufekci, 2018, Juvenile myelomonocytic leukemia in Turkey: a retrospective analysis of sixty-five patients, Turk J Haematol, 35, 27, 10.4274/tjh.2017.0021
Stieglitz, 2015, The genomic landscape of juvenile myelomonocytic leukemia, Nat Genet, 47, 1326, 10.1038/ng.3400
Flotho, 1999, RAS mutations and clonality analysis in children with juvenile myelomonocytic leukemia (JMML), Leukemia, 13, 32, 10.1038/sj.leu.2401240
De Filippi, 2009, Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia, Br J Haematol, 147, 706, 10.1111/j.1365-2141.2009.07894.x
Kraoua, 2012, Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia, Am J Med Genet A, 158A, 2407, 10.1002/ajmg.a.35513
Doisaki, 2012, Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia, Blood, 120, 1485, 10.1182/blood-2012-02-406090
Caye, 2015, Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network, Nat Genet, 47, 1334, 10.1038/ng.3420
Kato, 2013, Aggressive transformation of juvenile myelomonocytic leukemia associated with duplication of oncogenic KRAS due to acquired uniparental disomy, J Pediatr, 162, 10.1016/j.jpeds.2013.01.003
Zhang, 2009, Oncogenic Kras-induced leukemogeneis: hematopoietic stem cells as the initial target and lineage-specific progenitors as the potential targets for final leukemic transformation, Blood, 113, 1304, 10.1182/blood-2008-01-134262
Matsuda, 2007, Acquisition of loss of the wild-type NRAS locus with aggressive disease progression in a patient with juvenile myelomonocytic leukemia and a heterozygous NRAS mutation, Haematologica, 92, 1576, 10.3324/haematol.11503
Takagi, 2011, Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation, Blood, 117, 2887, 10.1182/blood-2010-08-301515
Giacaman, 2018, Cutaneous involvement in an 8-year-old boy with Ras-associated autoimmune leucoproliferative disorder (RALD), Clin Exp Dermatol, 43, 913, 10.1111/ced.13668
Calvo, 2015, JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities, Blood, 125, 2753, 10.1182/blood-2014-11-567917
He, 2017, Ras-associated autoimmune leukoproliferative disorder: a report of 2 cases and literature review, Zhonghua Er Ke Za Zhi, 55, 853
Oliveira, 2007, NRAS mutation causes a human autoimmune lymphoproliferative syndrome, Proc Natl Acad Sci U S A, 104, 8953, 10.1073/pnas.0702975104
Lanzarotti, 2014, RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia, Blood, 123, 1960, 10.1182/blood-2014-01-548958
Levy-Mendelovich, 2017, T and B cell clonal expansion in Ras-associated lymphoproliferative disease (RALD) as revealed by next-generation sequencing, Clin Exp Immunol, 189, 310, 10.1111/cei.12986
Shiota, 2015, Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases, J Clin Immunol, 35, 454, 10.1007/s10875-015-0163-3
Ragotte, 2017, The importance of considering monogenic causes of autoimmunity: a somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus, Clin Immunol, 175, 143, 10.1016/j.clim.2016.12.006
Coppe, 2018, Somatic mutations activating Wiskott–Aldrich syndrome protein concomitant with RAS pathway mutations in juvenile myelomonocytic leukemia patients, Hum Mutat, 39, 579, 10.1002/humu.23399
Chang, 2015, Loss of Dnmt3a and endogenous Kras(G12D/+) cooperate to regulate hematopoietic stem and progenitor cell functions in leukemogenesis, Leukemia, 29, 1847, 10.1038/leu.2015.85
Murakami, 2018, Integrated molecular profiling of juvenile myelomonocytic leukemia, Blood, 131, 1576, 10.1182/blood-2017-07-798157
Stieglitz, 2017, Genome-wide DNA methylation is predictive of outcome in juvenile myelomonocytic leukemia, Nat Commun, 8, 10.1038/s41467-017-02178-9
Lipka, 2017, RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia, Nat Commun, 8, 10.1038/s41467-017-02177-w
Neel, 2003, The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling, Trends Biochem Sci, 28, 284, 10.1016/S0968-0004(03)00091-4
Bunda, 2015, Inhibition of SHP2-mediated dephosphorylation of Ras suppresses oncogenesis, Nat Commun, 6, 10.1038/ncomms9859
Kano, 2016, New structural and functional insight into the regulation of Ras, Semin Cell Dev Biol, 58, 70, 10.1016/j.semcdb.2016.06.006
Choong, 1999, Juvenile myelomonocytic leukemia and Noonan syndrome, J Pediatr Hematol Oncol, 21, 523, 10.1097/00043426-199911000-00014
Niemeyer, 2014, RAS diseases in children, Haematologica, 99, 1653, 10.3324/haematol.2014.114595
Strullu, 2014, Juvenile myelomonocytic leukaemia and Noonan syndrome, J Med Genet, 51, 689, 10.1136/jmedgenet-2014-102611
Kratz, 2005, The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease, Blood, 106, 2183, 10.1182/blood-2005-02-0531
Tartaglia, 2003, Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia, Nat Genet, 34, 148, 10.1038/ng1156
Loh, 2004, Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis, Blood, 103, 2325, 10.1182/blood-2003-09-3287
Matsuda, 2010, Quantitative assessment of PTPN11 or RAS mutations at the neonatal period and during the clinical course in patients with juvenile myelomonocytic leukaemia, Br J Haematol, 148, 593, 10.1111/j.1365-2141.2009.07968.x
Yang, 2008, Activating PTPN11 mutants promote hematopoietic progenitor cell-cycle progression and survival, Exp Hematol, 36, 1285, 10.1016/j.exphem.2008.04.016
Chan, 2005, Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor, Blood, 105, 3737, 10.1182/blood-2004-10-4002
Schubbert, 2005, Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells, Blood, 106, 311, 10.1182/blood-2004-11-4207
Yang, 2009, Increased c-Jun expression and reduced GATA2 expression promote aberrant monocytic differentiation induced by activating PTPN11 mutants, Mol Cell Biol, 29, 4376, 10.1128/MCB.01330-08
Vian, 2014, Transcriptional fine-tuning of microRNA-223 levels directs lineage choice of human hematopoietic progenitors, Cell Death Differ, 21, 290, 10.1038/cdd.2013.145
Shen, 2016, The PU.1-modulated microRNA-22 is a regulator of monocyte/macrophage differentiation and acute myeloid leukemia, PLoS Genet, 12, 10.1371/journal.pgen.1006259
Mulero-Navarro, 2015, Myeloid dysregulation in a human induced pluripotent stem cell model of PTPN11-associated juvenile myelomonocytic leukemia, Cell Rep, 13, 504, 10.1016/j.celrep.2015.09.019
Xu, 2010, A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells, Blood, 116, 3611, 10.1182/blood-2010-01-265652
Liu, 2017, Inhibition of the Gab2/PI3K/mTOR signaling ameliorates myeloid malignancy caused by Ptpn11 (Shp2) gain-of-function mutations, Leukemia, 31, 1415, 10.1038/leu.2016.326
Xu, 2011, Non-lineage/stage-restricted effects of a gain-of-function mutation in tyrosine phosphatase Ptpn11 (Shp2) on malignant transformation of hematopoietic cells, J Exp Med, 208, 1977, 10.1084/jem.20110450
Yoshida, 2009, Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia, Pediatr Res, 65, 334, 10.1203/PDR.0b013e3181961d2a
Mohi, 2005, Prognostic, therapeutic, and mechanistic implications of a mouse model of leukemia evoked by Shp2 (PTPN11) mutations, Cancer Cell, 7, 179, 10.1016/j.ccr.2005.01.010
Chan, 2009, Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis, Blood, 113, 4414, 10.1182/blood-2008-10-182626
Tarnawsky, 2017, Mice expressing KrasG12D in hematopoietic multipotent progenitor cells develop neonatal myeloid leukemia, J Clin Invest, 127, 3652, 10.1172/JCI94031
Dong, 2016, Leukaemogenic effects of Ptpn11 activating mutations in the stem cell microenvironment, Nature, 539, 304, 10.1038/nature20131
Wilhelm, 2016, Epigenetic silencing of AKAP12 in juvenile myelomonocytic leukemia, Epigenetics, 11, 110, 10.1080/15592294.2016.1145327
Poetsch, 2014, RASA4 undergoes DNA hypermethylation in resistant juvenile myelomonocytic leukemia, Epigenetics, 9, 1252, 10.4161/epi.29941
Liu, 2013, Deficiency of CREB and over expression of miR-183 in juvenile myelomonocytic leukemia, Leukemia, 27, 1585, 10.1038/leu.2013.49
Liu, 2009, PTEN deficiency is a common defect in juvenile myelomonocytic leukemia, Leuk Res, 33, 671, 10.1016/j.leukres.2008.09.036
Thien, 2005, Loss of c-Cbl RING finger function results in high-intensity TCR signaling and thymic deletion, EMBO J, 24, 3807, 10.1038/sj.emboj.7600841
Thien, 2001, RING finger mutations that abolish c-Cbl-directed polyubiquitination and downregulation of the EGF receptor are insufficient for cell transformation, Mol Cell, 7, 355, 10.1016/S1097-2765(01)00183-6
Paolino, 2011, Essential role of E3 ubiquitin ligase activity in Cbl-b-regulated T cell functions, J Immunol, 186, 2138, 10.4049/jimmunol.1003390
Chiang, 2015, Regulation of T cell development by c-Cbl: essential role of Lck, Int Immunol, 27, 245, 10.1093/intimm/dxu105
Niemeyer, 2010, Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia, Nat Genet, 42, 794, 10.1038/ng.641
Martinelli, 2010, Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype, Am J Hum Genet, 87, 250, 10.1016/j.ajhg.2010.06.015
Loh, 2009, Mutations in CBL occur frequently in juvenile myelomonocytic leukemia, Blood, 114, 1859, 10.1182/blood-2009-01-198416
Muramatsu, 2010, Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia, Blood, 115, 1969, 10.1182/blood-2009-06-226340
Perez, 2010, Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia, Br J Haematol, 151, 460, 10.1111/j.1365-2141.2010.08393.x
Saito, 2012, Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia, Leuk Res, 36, 1009, 10.1016/j.leukres.2012.04.018
Pathak, 2015, Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family, Hum Genet, 134, 775, 10.1007/s00439-015-1550-9
Wang, 2010, ZAP-70: an essential kinase in T-cell signaling, Cold Spring Harb Perspect Biol, 2, 10.1101/cshperspect.a002279
Javadi, 2013, CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN, J Biol Chem, 288, 19459, 10.1074/jbc.M113.475087
Lv, 2017, CBL family E3 ubiquitin ligases control JAK2 ubiquitination and stability in hematopoietic stem cells and myeloid malignancies, Genes Dev, 31, 1007, 10.1101/gad.297135.117
Park, 1998, CBL-GRB2 interaction in myeloid immunoreceptor tyrosine activation motif signaling, J Immunol, 160, 5018, 10.4049/jimmunol.160.10.5018
Seaby, 2017, Unexpected findings in a child with atypical hemolytic uremic syndrome: an example of how genomics is changing the clinical diagnostic paradigm, Front Pediatr, 5, 113, 10.3389/fped.2017.00113
Guey, 2017, De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy, J Med Genet, 54, 550, 10.1136/jmedgenet-2016-104432
Hyakuna, 2015, Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder, Pediatr Blood Cancer, 62, 542, 10.1002/pbc.25271
Ballester, 1990, The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins, Cell, 63, 851, 10.1016/0092-8674(90)90151-4
Bader, 1978, Neurofibromatosis and childhood leukemia, J Pediatr, 92, 925, 10.1016/S0022-3476(78)80362-X
Steinemann, 2010, Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1, Haematologica, 95, 320, 10.3324/haematol.2009.010355
Flotho, 2007, Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11, Oncogene, 26, 5816, 10.1038/sj.onc.1210361
Side, 1998, Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1, Blood, 92, 267, 10.1182/blood.V92.1.267.413a31_267_272
Kim, 2007, Beta common receptor inactivation attenuates myeloproliferative disease in Nf1 mutant mice, Blood, 109, 1687, 10.1182/blood-2006-05-025395
Le, 2004, Somatic inactivation of Nf1 in hematopoietic cells results in a progressive myeloproliferative disorder, Blood, 103, 4243, 10.1182/blood-2003-08-2650
Blaydes, 2001, Retroviral integration at the Epi1 locus cooperates with Nf1 gene loss in the progression to acute myeloid leukemia, J Virol, 75, 9427, 10.1128/JVI.75.19.9427-9434.2001
Wiesner, 2011, Nf1 mutant mice with p19ARF gene loss develop accelerated hematopoietic disease resembling acute leukemia with a variable phenotype, Am J Hematol, 86, 579, 10.1002/ajh.22035
Gratias, 2005, Activating FLT3 mutations are rare in children with juvenile myelomonocytic leukemia, Pediatr Blood Cancer, 44, 142, 10.1002/pbc.20176
Liu, 2016, Timing of the loss of Pten protein determines disease severity in a mouse model of myeloid malignancy, Blood, 127, 1912, 10.1182/blood-2015-05-646216
Zvulunov, 1995, Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. World statistical analysis, Arch Dermatol, 131, 904, 10.1001/archderm.1995.01690200040007
Shin, 2004, Juvenile myelomonocytic leukemia presenting with features of hemophagocytic lymphohistiocytosis in association with neurofibromatosis and juvenile xanthogranulomas, J Pediatr Hematol Oncol, 26, 591, 10.1097/01.mph.0000135282.39550.99
Cambiaghi, 2004, Juvenile xanthogranuloma associated with neurofibromatosis 1: 14 patients without evidence of hematologic malignancies, Pediatr Dermatol, 21, 97, 10.1111/j.0736-8046.2004.21201.x
Raygada, 2010, Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia, Pediatr Blood Cancer, 54, 173, 10.1002/pbc.22297
Jans, 2015, Neurofibromatosis type 1 diagnosed in a child based on multiple juvenile xanthogranulomas and juvenile myelomonocytic leukemia, Pediatr Dermatol, 32, e29, 10.1111/pde.12478
Rottgers, 2010, ALK fusion genes in children with atypical myeloproliferative leukemia, Leukemia, 24, 1197, 10.1038/leu.2010.18
Morerio, 2004, HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2), Cancer Res, 64, 2649, 10.1158/0008-5472.CAN-03-4026
Buijs, 2007, Fusion of FIP1L1 and RARA as a result of a novel t(4;17)(q12;q21) in a case of juvenile myelomonocytic leukemia, Leukemia, 21, 1104, 10.1038/sj.leu.2404596
Flex, 2014, Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis, Hum Mol Genet, 23, 4315, 10.1093/hmg/ddu148
Steinemann, 2010, Mutations in the let-7 binding site – a mechanism of RAS activation in juvenile myelomonocytic leukemia?, Haematologica, 95, 1616, 10.3324/haematol.2010.024984
Helsmoortel, 2016, LIN28B overexpression defines a novel fetal-like subgroup of juvenile myelomonocytic leukemia, Blood, 127, 1163, 10.1182/blood-2015-09-667808
Leoncini, 2016, MicroRNA fingerprints in juvenile myelomonocytic leukemia (JMML) identified miR-150-5p as a tumor suppressor and potential target for treatment, Oncotarget, 7, 55395, 10.18632/oncotarget.10577
Hofmans, 2018, The long non-coding RNA landscape in juvenile myelomonocytic leukemia, Haematologica, 103, 10.3324/haematol.2018.189977
Pauli, 2012, Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D, Am J Med Genet A, 158A, 652, 10.1002/ajmg.a.34439
Ripperger, 2011, Constitutional trisomy 8p11.21-q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia, Br J Haematol, 155, 209, 10.1111/j.1365-2141.2011.08817.x
Olk-Batz, 2011, Aberrant DNA methylation characterizes juvenile myelomonocytic leukemia with poor outcome, Blood, 117, 4871, 10.1182/blood-2010-08-298968
Sakaguchi, 2015, Aberrant DNA methylation is associated with a poor outcome in juvenile myelomonocytic leukemia, PLoS One, 10, 10.1371/journal.pone.0145394
Fluhr, 2016, CREBBP is a target of epigenetic, but not genetic, modification in juvenile myelomonocytic leukemia, Clin Epigenetics, 8, 10.1186/s13148-016-0216-3
Fluhr, 2017, Epigenetic dysregulation of the erythropoietic transcription factor KLF1 and the beta-like globin locus in juvenile myelomonocytic leukemia, Epigenetics, 12, 715, 10.1080/15592294.2017.1356959
Muraoka, 2016, Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy, J Hum Genet, 61, 523, 10.1038/jhg.2016.8
Schmiegelow, 2009, Methotrexate/6-mercaptopurine maintenance therapy influences the risk of a second malignant neoplasm after childhood acute lymphoblastic leukemia: results from the NOPHO ALL-92 study, Blood, 113, 6077, 10.1182/blood-2008-11-187880
Dvorak, 2018, Disease burden and conditioning regimens in ASCT1221, a randomized phase II trial in children with juvenile myelomonocytic leukemia: a Children's Oncology Group study, Pediatr Blood Cancer, 65, 10.1002/pbc.27034
Hiramoto, 2015, Serial investigation of PTPN11 mutation in nonhematopoietic tissues in a patient with juvenile myelomonocytic leukemia who was treated with unrelated cord blood transplantation, Int J Hematol, 102, 719, 10.1007/s12185-015-1877-y
Chang, 2013, Sustained MEK inhibition abrogates myeloproliferative disease in Nf1 mutant mice, J Clin Invest, 123, 335, 10.1172/JCI63193
Akutagawa, 2016, Targeting the PI3K/Akt pathway in murine MDS/MPN driven by hyperactive Ras, Leukemia, 30, 1335, 10.1038/leu.2016.14
Lyubynska, 2011, A MEK inhibitor abrogates myeloproliferative disease in Kras mutant mice, Sci Transl Med, 3, 76ra27, 10.1126/scitranslmed.3001069
Goodwin, 2014, PI3K p110delta uniquely promotes gain-of-function Shp2-induced GM-CSF hypersensitivity in a model of JMML, Blood, 123, 2838, 10.1182/blood-2013-10-535104
Sachs, 2016, Stat5 is critical for the development and maintenance of myeloproliferative neoplasm initiated by Nf1 deficiency, Haematologica, 101, 1190, 10.3324/haematol.2015.136002
Deng, 2017, Pharmacologic inhibition of PI3K p110delta in mutant Shp2E76K-expressing mice, Oncotarget, 8, 84776, 10.18632/oncotarget.21455
Upadhyay, 2017, Use of rapamycin in a patient with juvenile myelomonocytic leukemia: a case report, J Investig Med High Impact Case Rep, 5
Kong, 2014, Combined MEK and JAK inhibition abrogates murine myeloproliferative neoplasm, J Clin Invest, 124, 2762, 10.1172/JCI74182
Tasian, 2019, Mutation-specific signaling profiles and kinase inhibitor sensitivities of juvenile myelomonocytic leukemia revealed by induced pluripotent stem cells, Leukemia, 33, 181, 10.1038/s41375-018-0169-y
Nakazawa, 2016, Anti-proliferative effects of T cells expressing a ligand-based chimeric antigen receptor against CD116 on CD34(+) cells of juvenile myelomonocytic leukemia, J Hematol Oncol, 9, 10.1186/s13045-016-0256-3
Furlan, 2009, Intriguing response to azacitidine in a patient with juvenile myelomonocytic leukemia and monosomy 7, Blood, 113, 2867, 10.1182/blood-2008-12-195693
Cseh, 2015, Bridging to transplant with azacitidine in juvenile myelomonocytic leukemia: a retrospective analysis of the EWOG-MDS study group, Blood, 125, 2311, 10.1182/blood-2015-01-619734
Leoncini, 2018, Whole Genome MBD-seq reveals different CpG methylation patterns in Azacytidine-treated Juvenile myelomonocytic Leukaemia (JMML) patients, Br J Haematol, 182, 909, 10.1111/bjh.14876
Flotho, 2018, DNA-hypomethylating agents as epigenetic therapy before and after allogeneic hematopoietic stem cell transplantation in myelodysplastic syndromes and juvenile myelomonocytic leukemia, Semin Cancer Biol, 51, 68, 10.1016/j.semcancer.2017.10.011
Shigemura, 2019, Essential role of PTPN11 mutation in enhanced haematopoietic differentiation potential of induced pluripotent stem cells of juvenile myelomonocytic leukaemia, Br J Haematol, 187, 163, 10.1111/bjh.16060
Gagne, 2018, Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL, Stem Cell Res, 31, 157, 10.1016/j.scr.2018.07.001
Gandre-Babbe, 2013, Patient-derived induced pluripotent stem cells recapitulate hematopoietic abnormalities of juvenile myelomonocytic leukemia, Blood, 121, 4925, 10.1182/blood-2013-01-478412
Wang, 2019, Immunometabolism features of metabolic deregulation and cancer, J Cell Mol Med, 23, 694, 10.1111/jcmm.13977