How I treat juvenile myelomonocytic leukemia

Blood

Volumn 125, Issue 7, 2015, Pages 1083-1090

  Locatelli, Franco ^a   Niemeyer, Charlotte M ^b,c  

^a UNIVERSITY OF PAVIA   (Italy)

^b UNIVERSITY OF FREIBURG   (Germany)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AZACITIDINE; BUSULFAN; CYCLOSPORIN; HEMOGLOBIN F; PROTEIN TYROSINE PHOSPHATASE SHP 2;

ABDOMINAL DISTENSION; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ANEMIA; ARTICLE; BLAST CELL; BLOOD SMEAR; BONE MARROW BIOPSY; CASE REPORT; CHILD; CHILDHOOD LEUKEMIA; CHIMERA; CHRONIC MYELOID LEUKEMIA; COHORT ANALYSIS; ERYTHROBLAST; FACE RASH; FEVER; GENE MUTATION; GRAFT VERSUS HOST REACTION; HEMOGLOBIN BLOOD LEVEL; HUMAN; HUMAN TISSUE; JUVENILE MYELOMONOCYTIC LEUKEMIA; KARYOTYPE; KARYOTYPE 46,XY; LEUKEMIA REMISSION; LEUKOCYTE COUNT; LEUKOCYTOSIS; LYMPHADENOPATHY; MALE; MONOCYTE; MONOCYTOSIS; MONOSOMY 7; ONCOGENE K RAS; ONCOGENE N RAS; PALLOR; PATHOPHYSIOLOGY; PEDIATRIC WARD; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SKIN BLEEDING; SKIN BRUISING; SOMATIC MUTATION; STEROID THERAPY; THROMBOCYTOPENIA; TREATMENT FAILURE; ALLOTRANSPLANTATION; CORD BLOOD STEM CELL TRANSPLANTATION; GENETIC SCREENING; GENETICS; GRAFT VS HOST DISEASE; IMMUNOSUPPRESSIVE TREATMENT; LEUKEMIA, MYELOMONOCYTIC, JUVENILE; PROCEDURES;

CHILD, PRESCHOOL; CORD BLOOD STEM CELL TRANSPLANTATION; CYCLOSPORINE; GENETIC TESTING; GRAFT VS HOST DISEASE; HUMANS; LEUKEMIA, MYELOMONOCYTIC, JUVENILE; MALE; TRANSPLANTATION CONDITIONING; TRANSPLANTATION, HOMOLOGOUS;

EID: 84923301480     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-08-550483     Document Type: Article

References (86)

1. Aricò M, Biondi A, Pui CH. Juvenile myelomonocytic leukemia. Blood. 1997;90(2): 479-488.
2. 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.
3. Niemeyer CM, Kratz C. Juvenile myelomonocytic leukemia. Curr Oncol Rep. 2003;5(6):510-515.
4. Loh ML. Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia. Br J Haematol. 2011;152(6):677-687.
5. Loh ML. Childhood myelodysplastic syndrome: focus on the approach to diagnosis and treatment of juvenile myelomonocytic leukemia. Hematol Am Soc Hematol Educ Program. 2010;2010: 357-362.
6. Passmore SJ, Hann IM, Stiller CA, et al. Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system. Blood. 1995;85(7): 1742-1750.
7. Chan RJ, Cooper T, Kratz CP, Weiss B, Loh ML. Juvenile myelomonocytic leukemia: a report from the 2nd International JMML Symposium. Leuk Res. 2009;33(3):355-362.
8. Niemeyer C, Fenu S, Hasle H, Mann G, Stary J, van Wering E. Differentiating juvenile myelomonocytic leukemia from infectious disease. Blood. 1998;91(1):365-367.
9. Weinberg RS, Leibowitz D, Weinblatt ME, Kochen J, Alter BP. Juvenile chronic myelogenous leukaemia: the only example of truly fetal (not fetal-like) erythropoiesis. Br J Haematol. 1990;76(2):307-310.
10. Niemeyer CM, Kratz CP. Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options. Br J Haematol. 2008;140(6):610-624.
11. Hasle H, Kerndrup G, Jacobsen BB. Childhood myelodysplastic syndrome in Denmark: incidence and predisposing conditions. Leukemia. 1995; 9(9):1569-1572.
12. World Health Organization. WHO classification of tumors of haematopoietic and lymphoid tissues. Lyon: IARC Press; 2008.
13. Pinkel D. Differentiating juvenile myelomonocytic leukemia from infectious disease. Blood. 1998; 91(1):365-367.
14. Karow A, Baumann I, Niemeyer CM. Morphologic differential diagnosis of juvenile myelomonocytic leukemia-pitfalls apart from viral infection. J Pediatr Hematol Oncol. 2009;31(5):380.
15. Yoshimi A, Kamachi Y, Imai K, et al. Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia. Pediatr Blood Cancer. 2013;60(5):836-841.
16. de Vries AC, Zwaan CM, van den Heuvel-Eibrink MM. Molecular basis of juvenile myelomonocytic leukemia. Haematologica. 2010;95(2):179-182.
17. Kratz CP, Niemeyer CM. Juvenile myelomonocytic leukemia. Hematology. 2005; 10(Suppl 1):100-103.
18. 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.
19. Emanuel PD, Bates LJ, Zhu SW, Castleberry RP, Gualtieri RJ, Zuckerman KS. The role of monocyte-derived hemopoietic growth factors in the regulation of myeloproliferation in juvenile chronic myelogenous leukemia. Exp Hematol. 1991;19(10):1017-1024.
20. Lorenzana A, Lyons H, Sawaf H, Higgins M, Carrigan D, Emanuel PD. Human herpesvirus 6 infection mimicking juvenile myelomonocytic leukemia in an infant. J Pediatr Hematol Oncol. 2002;24(2):136-141.
21. Moritake H, Ikeda T, Manabe A, Kamimura S, Nunoi H. Cytomegalovirus infection mimicking juvenile myelomonocytic leukemia showing hypersensitivity to granulocyte-macrophage colony stimulating factor. Pediatr Blood Cancer. 2009;53(7):1324-1326.
22. Hasegawa D, Bugarin C, Giordan M, et al. Validation of flow cytometric phospho-STAT5 as a diagnostic tool for juvenile myelomonocytic leukemia. Blood Cancer J. 2013;3:e160.
23. 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.
24. Chang TY, Dvorak CC, Loh ML. Bedside to bench in juvenile myelomonocytic leukemia: insights into leukemogenesis from a rare pediatric leukemia. Blood. 2014;124(16):2487-2497.
25. Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet. 2011; 157C(2):83-89.
26. Kratz CP, Schubbert S, Bollag G, Niemeyer CM, Shannon KM, Zenker M. Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. Cell Cycle. 2006;5(15):1607-1611.
27. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1 revisited. Pediatrics. 2009;123(1):124-133.
28. 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.
29. 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.
30. Kratz CP, Niemeyer CM, Castleberry RP, et al. The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood. 2005;106(6): 2183-2185.
31. Miyauchi J, Asada M, Sasaki M, Tsunematsu Y, Kojima S, Mizutani S. Mutations of the N-ras gene in juvenile chronic myelogenous leukemia. Blood. 1994;83(8):2248-2254.
32. 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.
33. Kalra R, Paderanga DC, Olson K, Shannon KM. Genetic analysis is consistent with the hypothesis that NF1 limits myeloid cell growth through p21ras. Blood. 1994;84(10):3435-3439.
34. 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.
35. De Filippi P, Zecca M, Lisini D, et al. Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. Br J Haematol. 2009;147(5):706-709.
36. Loh ML, Sakai DS, Flotho C, et al. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood. 2009;114(9):1859-1863.
37. Muramatsu H, Makishima H, Jankowska AM, et al. Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. Blood. 2010;115(10): 1969-1975.
38. Matsuda K, Taira C, Sakashita K, et al. Long-term survival after nonintensive chemotherapy in some juvenile myelomonocytic leukemia patients with CBL mutations, and the possible presence of healthy persons with the mutations. Blood. 2010; 115(26):5429-5431.
39. Pérez B, Mechinaud F, Galambrun C, et al. Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. J Med Genet. 2010; 47(10):686-691.
40. Naramura M, Jang IK, Kole H, Huang F, Haines D, Gu H. c-Cbl and Cbl-b regulate T cell responsiveness by promoting ligand-induced TCR down-modulation. Nat Immunol. 2002;3(12): 1192-1199.
41. Zecca M, Bergamaschi G, Kratz C, et al. JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia. Leukemia. 2007;21(2): 367-369.
42. Pérez B, Kosmider O, Cassinat B, et al. 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. 2010; 151(5):460-468.
43. 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.
44. Stieglitz E, Troup CB, Gelston LC, et al. Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. Blood. 2014; Epub ahead of print.
45. Olk-Batz C, Poetsch AR, Nöllke P, et al; European Working Group of Myelodysplastic Syndromes in Childhood (EWOG-MDS). Aberrant DNA methylation characterizes juvenile myelomonocytic leukemia with poor outcome. Blood. 2011;117(18):4871-4880.
46. Poetsch AR, Lipka DB, Witte T, et al. RASA4 is a target of DNA hypermethylation in resistant juvenile myelomonocytic leukemia. Epigenetics. 2014;9(9):1252-1260.
47. Locatelli F, Niemeyer C, Angelucci E, et al. Allogeneic bone marrow transplantation for chronic myelomonocytic leukemia in childhood: a report from the European Working Group on Myelodysplastic Syndrome in Childhood. J Clin Oncol. 1997;15(2):566-573.
48. 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.
49. Yabe M, Sako M, Yabe H, et al; Japanese Childhood MDS Study Group. A conditioning regimen of busulfan, fludarabine, and melphalan for allogeneic stem cell transplantation in children with juvenile myelomonocytic leukemia. Pediatr Transplant. 2008;12(8):862-867.
50. Manabe A, Okamura J, Yumura-Yagi K, et al; MDS Committee of the Japanese Society of Pediatric Hematology. Allogeneic hematopoietic stem cell transplantation for 27 children with juvenile myelomonocytic leukemia diagnosed based on the criteria of the International JMML Working Group. Leukemia. 2002;16(4):645-649.
51. Smith FO, King R, Nelson G, et al; National Marrow Donor Program. Unrelated donor bone marrow transplantation for children with juvenile myelomonocytic leukaemia. Br J Haematol. 2002; 116(3):716-724.
52. Dvorak CC, Loh ML. Juvenile myelomonocytic leukemia: molecular pathogenesis informs current approaches to therapy and hematopoietic cell transplantation. Front Pediatr. 2014;2:25.
53. 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.
54. Matsuda K, Yoshida N, Miura S, et al. Long-term haematological improvement after non-intensive or no chemotherapy in juvenile myelomonocytic leukaemia and poor correlation with adult myelodysplasia spliceosome-related mutations. Br J Haematol. 2012;157(5):647-650.
55. 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.
56. Yusuf U, Frangoul HA, Gooley TA, et al. Allogeneic bone marrow transplantation in children with myelodysplastic syndrome or juvenile myelomonocytic leukemia: the Seattle experience. Bone Marrow Transplant. 2004;33(8): 805-814.
57. 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.
58. Bertaina A, Bernardo ME, Caniglia M, Vinti L, Giorgiani G, Locatelli F. Cord blood transplantation in children with haematological malignancies. Best Pract Res Clin Haematol. 2010;23(2):189-196.
59. Locatelli F. Improving cord blood transplantation in children. Br J Haematol. 2009;147(2):217-226.
60. Rocha V, Locatelli F. Searching for alternative hematopoietic stem cell donors for pediatric patients. Bone Marrow Transplant. 2008;41(2): 207-214.
61. Eapen M, Rubinstein P, Zhang MJ, et al. Outcomes of transplantation of unrelated donor umbilical cord blood and bone marrow in children with acute leukaemia: a comparison study. Lancet. 2007;369(9577):1947-1954.
62. Barker JN, Davies SM, DeFor T, Ramsay NK, Weisdorf DJ, Wagner JE. Survival after transplantation of unrelated donor umbilical cord blood is comparable to that of human leukocyte antigen-matched unrelated donor bone marrow: results of a matched-pair analysis. Blood. 2001; 97(10):2957-2961.
63. Kurtzberg J, Prasad VK, Carter SL, et al; COBLT Steering Committee. Results of the Cord Blood Transplantation Study (COBLT): clinical outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with hematologic malignancies. Blood. 2008;112(10): 4318-4327.
64. Eapen M, Klein JP, Ruggeri A, et al; Center for International Blood and Marrow Transplant Research, Netcord, Eurocord, and the European Group for Blood and Marrow Transplantation. Impact of allele-level HLA matching on outcomes after myeloablative single unit umbilical cord blood transplantation for hematologic malignancy. Blood. 2014;123(1):133-140.
65. 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.
66. Yoshida N, Yagasaki H, Xu Y, et al. Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. Pediatr Res. 2009;65(3):334-340.
67. Giorgiani G, Bozzola M, Locatelli F, et al. Role of busulfan and total body irradiation on growth of prepubertal children receiving bone marrow transplantation and results of treatment with recombinant human growth hormone. Blood. 1995;86(2):825-831.
68. Bernard F, Auquier P, Herrmann I, et al. Health status of childhood leukemia survivors who received hematopoietic cell transplantation after BU or TBI: an LEA study. Bone Marrow Transplant. 2014;49(5):709-716.
69. Kunkele A, Engelhard M, Hauffa BP, et al. Long-term follow-up of pediatric patients receiving total body irradiation before hematopoietic stem cell transplantation and post-transplant survival of .2 years. Pediatr Blood Cancer. 2013;60(11): 1792-1797.
70. Berbis J, Michel G, Chastagner P, et al. A French cohort of childhood leukemia survivors: impact of hematopoietic stem cell transplantation on health status and quality of life. Biol Blood Marrow Transplant. 2013;19(7):1065-1072.
71. Inagaki J, Fukano R, Nishikawa T, et al. Outcomes of immunological interventions for mixed chimerism following allogeneic stem cell transplantation in children with juvenile myelomonocytic leukemia. Pediatr Blood Cancer. 2013;60(1):116-120.
72. Locatelli F, Lucarelli B. Treatment of disease recurrence after allogeneic hematopoietic stem cell transplantation in children with juvenile myelomonocytic leukemia: a great challenge still to be won. Pediatr Blood Cancer. 2013;60(1):1-2.
73. Yoshimi A, Niemeyer CM, Bohmer V, et al. Chimaerism analyses and subsequent immunological intervention after stem cell transplantation in patients with juvenile myelomonocytic leukaemia. Br J Haematol. 2005; 129(4):542-549.
74. Bunin N, Saunders F, Leahey A, Doyle J, Calderwood S, Freedman MH. Alternative donor bone marrow transplantation for children with juvenile myelomonocytic leukemia. J Pediatr Hematol Oncol. 1999;21(6):479-485.
75. Di Sabatino A, Carsetti R, Corazza GR. Postsplenectomy and hyposplenic states. Lancet. 2011;378(9785):86-97.
76. Bergstraesser E, Hasle H, Rogge T, et al. Non-hematopoietic stem cell transplantation treatment of juvenile myelomonocytic leukemia: a retrospective analysis and definition of response criteria. Pediatr Blood Cancer. 2007;49(5): 629-633.
77. Chang YH, Jou ST, Lin DT, Lu MY, Lin KH. Second allogeneic hematopoietic stem cell transplantation for juvenile myelomonocytic leukemia: case report and literature review. J Pediatr Hematol Oncol. 2004;26(3):190-193.
78. Archambeault S, Flores NJ, Yoshimi A, et al. Development of an allele-specific minimal residual disease assay for patients with juvenile myelomonocytic leukemia. Blood. 2008;111(3): 1124-1127.
79. Yoshimi A, Bader P, Matthes-Martin S, et al; European Working Group of MDS in Childhood (EWOG-MDS). Donor leukocyte infusion after hematopoietic stem cell transplantation in patients with juvenile myelomonocytic leukemia. Leukemia. 2005;19(6):971-977.
80. 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.
81. Wlodarski MW, Mötter J, Gorr TA, et al. Abnormal promoter DNA methylation in juvenile myelomonocytic leukemia is not caused by mutation in DNMT3A. Blood. 2011;118(16): 4490-4491.
82. Furlan I, Batz C, Flotho C, et al. Intriguing response to azacitidine in a patient with juvenile myelomonocytic leukemia and monosomy 7. Blood. 2009;113(12):2867-2868.
83. Lauchle JO, Kim D, Le DT, et al. Response and resistance to MEK inhibition in leukaemias initiated by hyperactive Ras. Nature. 2009; 461(7262):411-414.
84. Chang T, Krisman K, Theobald EH, et al. Sustained MEK inhibition abrogates myeloproliferative disease in Nf1 mutant mice. J Clin Invest. 2013;123(1):335-339.
85. Lyubynska N, Gorman MF, Lauchle JO, et al. A MEK inhibitor abrogates myeloproliferative disease in Kras mutant mice. Sci Transl Med. 2011;3(76):76ra27.
86. Gandre Babbe S, Paluru P, Aribeana C, et al. Patient-derived induced pluripotent stem cells recapitulate hematopoietic abnormalities of juvenile myelomonocytic leukemia. Blood. 2013; 121(24):4925-4929.