Retrospective family study of childhood medulloblastoma

David Ng, Theodora Stavrou, Ling Liu, Michael D. Taylor, Bert Gold, Michael Dean, Michael J. Kelley, Elizabeth C. Dubovsky, Gilbert Vezina, H. S. Nicholson, Julianne Byrne, James T. Rutka, David Hogg, Gregory H. Reaman, Alisa M. Goldstein

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)399-403
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume134 A
Issue number4
DOIs
StatePublished - May 1 2005

Keywords

  • GLI3
  • Medulloblastoma
  • PTCH1
  • SUFU

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Retrospective family study of childhood medulloblastoma'. Together they form a unique fingerprint.

  • Cite this

    Ng, D., Stavrou, T., Liu, L., Taylor, M. D., Gold, B., Dean, M., Kelley, M. J., Dubovsky, E. C., Vezina, G., Nicholson, H. S., Byrne, J., Rutka, J. T., Hogg, D., Reaman, G. H., & Goldstein, A. M. (2005). Retrospective family study of childhood medulloblastoma. American Journal of Medical Genetics, 134 A(4), 399-403. https://doi.org/10.1002/ajmg.a.30653