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Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome.

Publication ,  Journal Article
Dixon, N; Kishnani, PS; Zimmerman, S
Published in: Am J Med Genet C Semin Med Genet
August 15, 2006

Hematologic abnormalities are common in individuals with Down syndrome (DS). Increased erythrocyte mean corpuscular volume (MCV) is frequently found among DS infants and remains elevated throughout life in two-thirds of patients, making interpretation of red cell indices for diagnosis of nutritional anemias or bone marrow failure disorders more challenging. Transient myeloproliferative disorder (TMD) associated with pancytopenia, hepatosplenomegaly, and circulating immature WBCs, is found almost exclusively in DS infants with an incidence of approximately 10%. In most cases, TMD regresses spontaneously within the first 3 months of life, but in some children, it can be life threatening or even fatal. Despite the high rate of spontaneous regression, TMD can be a preleukemic disorder in 20-30% of children with DS. The types of malignancy, response to therapy, and clinical outcome in children with DS are also unique. There is an increased risk of leukemia with an equal incidence of lymphoid and myeloid leukemia. Acute megakaryocytic leukemia (AMKL) subtype is the most common form of acute myeloid leukemia (AML) in this setting, and is uncommon in children without DS. Somatic mutations of the gene encoding the hematopoetic growth factor GATA1 have been shown to be specific for TMD and AMKL in children with DS. Myelodysplastic syndrome can precede AML. Children with DS and leukemia are more sensitive to some chemotherapeutic agents such as methotrexate than other children which requires careful monitoring for toxicity. Although the risk for leukemia is higher in individuals with DS, these patients have a lower risk of developing solid tumors, with the exception of germ cell tumors, and perhaps retinoblastoma and lymphoma.

Duke Scholars

Published In

Am J Med Genet C Semin Med Genet

DOI

ISSN

1552-4868

Publication Date

August 15, 2006

Volume

142C

Issue

3

Start / End Page

149 / 157

Location

United States

Related Subject Headings

  • Neoplasms
  • Myeloproliferative Disorders
  • Male
  • Leukemia
  • Infant
  • Humans
  • Hematologic Diseases
  • Genetics & Heredity
  • Female
  • Down Syndrome
 

Citation

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Chicago
ICMJE
MLA
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Dixon, N., Kishnani, P. S., & Zimmerman, S. (2006). Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome. Am J Med Genet C Semin Med Genet, 142C(3), 149–157. https://doi.org/10.1002/ajmg.c.30096
Dixon, Natalia, Priya S. Kishnani, and Sherri Zimmerman. “Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome.Am J Med Genet C Semin Med Genet 142C, no. 3 (August 15, 2006): 149–57. https://doi.org/10.1002/ajmg.c.30096.
Dixon N, Kishnani PS, Zimmerman S. Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome. Am J Med Genet C Semin Med Genet. 2006 Aug 15;142C(3):149–57.
Dixon, Natalia, et al. “Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome.Am J Med Genet C Semin Med Genet, vol. 142C, no. 3, Aug. 2006, pp. 149–57. Pubmed, doi:10.1002/ajmg.c.30096.
Dixon N, Kishnani PS, Zimmerman S. Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome. Am J Med Genet C Semin Med Genet. 2006 Aug 15;142C(3):149–157.
Journal cover image

Published In

Am J Med Genet C Semin Med Genet

DOI

ISSN

1552-4868

Publication Date

August 15, 2006

Volume

142C

Issue

3

Start / End Page

149 / 157

Location

United States

Related Subject Headings

  • Neoplasms
  • Myeloproliferative Disorders
  • Male
  • Leukemia
  • Infant
  • Humans
  • Hematologic Diseases
  • Genetics & Heredity
  • Female
  • Down Syndrome