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Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus.

Publication ,  Journal Article
Van Mater, D; Knelson, EH; Kaiser-Rogers, KA; Armstrong, MB
Published in: Am J Med Genet A
March 2013

Neuroblastoma is the most common solid tumor of infancy, and mutations in several genes have been implicated as playing a role in tumor development. Here, we describe a pediatric patient with a constitutional microduplication of 2p24.3 who developed Stage 4 neuroblastoma at age 11 months. He represents the sixth patient described in the literature with partial trisomy 2p and neuroblastoma. All previous cases had duplication events spanning two genes implicated in neuroblastoma, MYCN and ALK. Our patient is unique because his duplicated region includes the MYCN gene only; the ALK gene is unaffected. These data, combined with the relatively high incidence of neuroblastoma reported in partial trisomy 2p patients, support the notion that MYCN duplication should be added to the growing list of genetic factors associated with an increased risk of neuroblastoma. The mechanism of increased risk is unclear, but the fact that our patient had dramatic amplification of MYCN in his tumor suggests that a germline duplication might predispose to further amplification. Additionally, our patient has several morphologic features common to patients with partial trisomy 2p including high forehead, hypertelorism, postaxial polydactyly, and developmental delay despite having a microduplication spanning approximately 1 Mb and including just three intact genes. This case may therefore help further delineate the genotype-phenotype correlations associated with partial trisomy 2p.

Duke Scholars

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

March 2013

Volume

161A

Issue

3

Start / End Page

605 / 610

Location

United States

Related Subject Headings

  • Thoracic Neoplasms
  • Radiography
  • Oncogene Proteins
  • Nuclear Proteins
  • Neuroblastoma
  • N-Myc Proto-Oncogene Protein
  • Male
  • Infant
  • Humans
  • Genetic Loci
 

Citation

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ICMJE
MLA
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Van Mater, D., Knelson, E. H., Kaiser-Rogers, K. A., & Armstrong, M. B. (2013). Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus. Am J Med Genet A, 161A(3), 605–610. https://doi.org/10.1002/ajmg.a.35766
Van Mater, David, Erik H. Knelson, Kathleen A. Kaiser-Rogers, and Michael B. Armstrong. “Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus.Am J Med Genet A 161A, no. 3 (March 2013): 605–10. https://doi.org/10.1002/ajmg.a.35766.
Van Mater D, Knelson EH, Kaiser-Rogers KA, Armstrong MB. Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus. Am J Med Genet A. 2013 Mar;161A(3):605–10.
Van Mater, David, et al. “Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus.Am J Med Genet A, vol. 161A, no. 3, Mar. 2013, pp. 605–10. Pubmed, doi:10.1002/ajmg.a.35766.
Van Mater D, Knelson EH, Kaiser-Rogers KA, Armstrong MB. Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus. Am J Med Genet A. 2013 Mar;161A(3):605–610.
Journal cover image

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

March 2013

Volume

161A

Issue

3

Start / End Page

605 / 610

Location

United States

Related Subject Headings

  • Thoracic Neoplasms
  • Radiography
  • Oncogene Proteins
  • Nuclear Proteins
  • Neuroblastoma
  • N-Myc Proto-Oncogene Protein
  • Male
  • Infant
  • Humans
  • Genetic Loci