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Retrospective family study of childhood medulloblastoma.

Publication ,  Journal Article
Ng, D; Stavrou, T; Liu, L; Taylor, MD; Gold, B; Dean, M; Kelley, MJ; Dubovsky, EC; Vezina, G; Nicholson, HS; Byrne, J; Rutka, JT; Hogg, D ...
Published in: Am J Med Genet A
May 1, 2005

Medulloblastoma is the most common malignant central nervous system tumor of childhood and can occur sporadically or in association with inherited cancer susceptibility syndromes such as the nevoid basal cell carcinoma syndrome (NBCCS). To determine whether an association existed between the risk of developing medulloblastoma and undiagnosed syndromes, we retrospectively reviewed clinical data on 33 patients with medulloblastoma from a single institution and compared them with their unaffected relatives (n = 46). Six patients had tumors showing desmoplastic histology. Two of the six met diagnostic criteria for NBCCS. One NBCCS patient had a missense mutation of patched-1 (PTCH1); the other had no identifiable PTCH1 mutation. Two patients with isolated desmoplastic medulloblastoma had an insertion and splice site mutation, respectively, in suppressor of fused (SUFU). All patients with nondesmoplastic medulloblastoma histology received molecular testing for SUFU. None of these patients had an identifiable mutation in PTCH1 or SUFU. We performed a clinical evaluation for Greig cephalopolysyndactyly syndrome (GCPS) in four medulloblastoma families, who exhibited macrocephaly as the only finding consistent with the diagnosis of GCPS. Molecular analysis of GLI3 in these four families was negative. There was a paucity of clinical findings among the majority of medulloblastoma patients in this study group to suggest a definable cancer genetic syndrome. We conclude that clinically recognizable syndromes are uncommon among patients with medulloblastoma, however, PTCH1 and SUFU mutations are present at a low but significant frequency.

Duke Scholars

Published In

Am J Med Genet A

DOI

ISSN

1552-4825

Publication Date

May 1, 2005

Volume

134

Issue

4

Start / End Page

399 / 403

Location

United States

Related Subject Headings

  • Zinc Finger Protein Gli3
  • Transcription Factors
  • Retrospective Studies
  • Repressor Proteins
  • Receptors, Cell Surface
  • Pedigree
  • Patched-1 Receptor
  • Patched Receptors
  • Nerve Tissue Proteins
  • Mutation
 

Citation

APA
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MLA
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Ng, D., Stavrou, T., Liu, L., Taylor, M. D., Gold, B., Dean, M., … Goldstein, A. M. (2005). Retrospective family study of childhood medulloblastoma. Am J Med Genet A, 134(4), 399–403. https://doi.org/10.1002/ajmg.a.30653
Ng, David, Theodora Stavrou, Ling Liu, Michael D. Taylor, Bert Gold, Michael Dean, Michael J. Kelley, et al. “Retrospective family study of childhood medulloblastoma.Am J Med Genet A 134, no. 4 (May 1, 2005): 399–403. https://doi.org/10.1002/ajmg.a.30653.
Ng D, Stavrou T, Liu L, Taylor MD, Gold B, Dean M, et al. Retrospective family study of childhood medulloblastoma. Am J Med Genet A. 2005 May 1;134(4):399–403.
Ng, David, et al. “Retrospective family study of childhood medulloblastoma.Am J Med Genet A, vol. 134, no. 4, May 2005, pp. 399–403. Pubmed, doi:10.1002/ajmg.a.30653.
Ng D, Stavrou T, Liu L, Taylor MD, Gold B, Dean M, Kelley MJ, Dubovsky EC, Vezina G, Nicholson HS, Byrne J, Rutka JT, Hogg D, Reaman GH, Goldstein AM. Retrospective family study of childhood medulloblastoma. Am J Med Genet A. 2005 May 1;134(4):399–403.
Journal cover image

Published In

Am J Med Genet A

DOI

ISSN

1552-4825

Publication Date

May 1, 2005

Volume

134

Issue

4

Start / End Page

399 / 403

Location

United States

Related Subject Headings

  • Zinc Finger Protein Gli3
  • Transcription Factors
  • Retrospective Studies
  • Repressor Proteins
  • Receptors, Cell Surface
  • Pedigree
  • Patched-1 Receptor
  • Patched Receptors
  • Nerve Tissue Proteins
  • Mutation