Pediatric Myelodysplastic Syndrome Clinical Presentation
- Author: Prasad Mathew, MBBS, DCH, FAAP; Chief Editor: Jennifer Reikes Willert, MD more...
Children with myelodysplastic syndrome (MDS) have a history consistent with bone marrow failure. Their history and presentation are similar to those of children with leukemia.
The interval between the onset of symptoms and diagnosis is 0-23 months, with a median of 2 months. Patients may be asymptomatic, and the condition may be discovered when a routine complete blood count is obtained.
Other symptoms include the following:
- Systemic infection (bacterial or fungal)
- Prolonged fever
- Bruising, bleeding
Children with MDS have findings consistent with bone marrow failure. The presentation may resemble that of acute leukemia.
General appearances range from well to constitutional wasting. Pallor and fatigue due to anemia may be present. Hepatosplenomegaly predominates in juvenile myelomonocytic leukemia (JMML). Lymphadenopathy is present in 40-76% of patients with JMML but is present in less than 10% of patients with adult-type myelodysplastic syndrome (MDS). About 30% of patients with JMML have a diffuse erythematous, maculopapular rash.
Bennett JM, Catovsky D, Daniel MT, et al. The chronic myeloid leukaemias: guidelines for distinguishing chronic granulocytic, atypical chronic myeloid, and chronic myelomonocytic leukaemia. Proposals by the French-American-British Cooperative Leukaemia Group. Br J Haematol. 1994 Aug. 87(4):746-54. [Medline].
Hasle H, Niemeyer CM, Chessells JM, et al. A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases. Leukemia. 2003 Feb. 17(2):277-82. [Medline].
Steliarova-Foucher E, Stiller C, Lacour B, Kaatsch P. International Classification of Childhood Cancer, third edition. Cancer. 2005 Apr 1. 103(7):1457-67. [Medline].
Velloso ED, Chauffaille ML, Pelicario LM, et al. Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country. Braz J Med Biol Res. 2013 Jan. 46(1):85-90. [Medline].
Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol. 2000 Sep. 110(4):768-79. [Medline].
Lange BJ, Kobrinsky N, Barnard DR, et al. Distinctive demography, biology, and outcome of acute myeloid leukemia and myelodysplastic syndrome in children with Down syndrome: Children's Cancer Group Studies 2861 and 2891. Blood. 1998 Jan 15. 91(2):608-15. [Medline].
Smith OP. Shwachman-Diamond syndrome. Semin Hematol. 2002 Apr. 39(2):95-102. [Medline].
Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio AP, Auerbach AD. Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study. Blood. 1994 Sep 1. 84(5):1650-5. [Medline].
Freedman MH, Bonilla MA, Fier C, et al. Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. Blood. 2000 Jul 15. 96(2):429-36. [Medline].
Willig TN, Niemeyer CM, Leblanc T, et al. Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. Pediatr Res. 1999 Nov. 46(5):553-61. [Medline].
Ohara A, Kojima S, Okamura J, et al. Evolution of myelodysplastic syndrome and acute myelogenous leukaemia in children with hepatitis-associated aplastic anaemia. Br J Haematol. 2002 Jan. 116(1):151-4. [Medline].
Ohara A, Kojima S, Hamajima N, et al. Myelodysplastic syndrome and acute myelogenous leukemia as a late clonal complication in children with acquired aplastic anemia. Blood. 1997 Aug 1. 90(3):1009-13. [Medline].
Kim M, Kook H, Park HJ, Ahn HS, Lee KC, Lee KS. Quantitative Comparison of CDKN2B Methylation in Pediatric and Adult Myelodysplastic Syndromes. Acta Haematol. 2013. 130:115-21. [Medline].
Blank J, Lange B. Preleukemia in children. J Pediatr. 1981 Apr. 98(4):565-8. [Medline].
Greenberg PL, Mara B. The preleukemic syndrome: correlation of in vitro parameters of granulopoiesis with clinical features. Am J Med. 1979 Jun. 66(6):951-8. [Medline].
Hasle H, Kerndrup G, Jacobsen BB. Childhood myelodysplastic syndrome in Denmark: incidence and predisposing conditions. Leukemia. 1995 Sep. 9(9):1569-72. [Medline].
Luna-Fineman S, Shannon KM, Atwater SK, et al. Myelodysplastic and myeloproliferative disorders of childhood: a study of 167 patients. Blood. 1999 Jan 15. 93(2):459-66. [Medline].
Malcovati L, Della Porta MG, Cazzola M. Predicting survival and leukemic evolution in patients with myelodysplastic syndrome. Haematologica. 2006 Dec. 91(12):1588-90. [Medline].
Bresolin S, Trentin L, Zecca M, Giordan M, Sainati L, Locatelli F. Gene expression signatures of pediatric myelodysplastic syndromes are associated with risk of evolution into acute myeloid leukemia. Leukemia. 2012 Jul. 26(7):1717-9. [Medline].
Hasle H, Arico M, Basso G, et al. Myelodysplastic syndrome, juvenile myelomonocytic leukemia, and acute myeloid leukemia associated with complete or partial monosomy 7. European Working Group on MDS in Childhood (EWOG-MDS). Leukemia. 1999 Mar. 13(3):376-85. [Medline].
Yoshimi A, Baumann I, Führer M, et al. Immunosuppressive therapy with anti-thymocyte globulin and cyclosporine A in selected children with hypoplastic refractory cytopenia. Haematologica. 2007 Mar. 92(3):397-400. [Medline].
Lang P, Greil J, Bader P, et al. Long-term outcome after haploidentical stem cell transplantation in children. Blood Cells Mol Dis. 2004 Nov-Dec. 33(3):281-7. [Medline].
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 Apr. 33(8):805-14. [Medline].
Al-Seraihy A, Ayas M, Al-Nounou R, El-Solh H, Al-Ahmari A, Al-Jefri A. Outcome of allogeneic stem cell transplantation with a conditioning regimen of busulfan, cyclophosphamide and low-dose etoposide for children with myelodysplastic syndrome. Hematol Oncol Stem Cell Ther. 2011. 4(3):121-5. [Medline].
Smith AR, Christiansen EC, Wagner JE, Cao Q, MacMillan ML, Stefanski HE. Early hematopoietic stem cell transplant is associated with favorable outcomes in children with MDS. Pediatr Blood Cancer. 2013 Apr. 60(4):705-10. [Medline].
Strahm B, Locatelli F, Bader P, et al. Reduced intensity conditioning in unrelated donor transplantation for refractory cytopenia in childhood. Bone Marrow Transplant. 2007 Aug. 40(4):329-33. [Medline].
Williamson PJ, Kruger AR, Reynolds PJ, Hamblin TJ, Oscier DG. Establishing the incidence of myelodysplastic syndrome. Br J Haematol. 1994 Aug. 87(4):743-5. [Medline].
Hasle H, Kerndrup G, Yssing M, et al. Intensive chemotherapy in childhood myelodysplastic syndrome. A comparison with results in acute myeloid leukemia. Leukemia. 1996 Aug. 10(8):1269-73. [Medline].
List A, Dewald G, Bennett J, et al. Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. N Engl J Med. 2006 Oct 5. 355(14):1456-65. [Medline].
Silverman LR, Demakos EP, Peterson BL, et al. Randomized controlled trial of azacitidine in patients with the myelodysplastic syndrome: a study of the cancer and leukemia group B. J Clin Oncol. 2002 May 15. 20(10):2429-40. [Medline].
Kantarjian H, Issa JP, Rosenfeld CS, et al. Decitabine improves patient outcomes in myelodysplastic syndromes: results of a phase III randomized study. Cancer. 2006 Apr 15. 106(8):1794-803. [Medline].
Bernal T, Martínez-Camblor P, Sánchez-García J, et al. Effectiveness of azacitidine in unselected high-risk myelodysplastic syndromes: results from the Spanish registry. Leukemia. 2015 Sep. 29 (9):1875-81. [Medline].
Raymond J. Azacitidine May Not Improve Long-Term Survival In Myelodysplastic Syndromes. Reuters Health Information. Available at http://www.medscape.com/viewarticle/844723. May 15, 2015; Accessed: December 11, 2015.
Miller K, Haesook K, Greenberg P, et al. Phase III prospective randomized trial of EPO with or without G-CSF versus supportive care in the treatment of MDS: results of the ECOG-CLSG trial. Blood. 2004. 104:70.