PMID- 15759260
OWN - NLM
STAT- MEDLINE
DCOM- 20050627
LR  - 20201113
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 134
IP  - 4
DP  - 2005 May 1
TI  - Retrospective family study of childhood medulloblastoma.
PG  - 399-403
AB  - 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.
CI  - 2005 Wiley-Liss, Inc.
FAU - Ng, David
AU  - Ng D
AD  - Genetic Epidemiology Branch, DCEG, NCI, NIH, DHHS, Bethesda, Maryland, USA. 
      davidng@mail.nih.gov
FAU - Stavrou, Theodora
AU  - Stavrou T
FAU - Liu, Ling
AU  - Liu L
FAU - Taylor, Michael D
AU  - Taylor MD
FAU - Gold, Bert
AU  - Gold B
FAU - Dean, Michael
AU  - Dean M
FAU - Kelley, Michael J
AU  - Kelley MJ
FAU - Dubovsky, Elizabeth C
AU  - Dubovsky EC
FAU - Vezina, Gilbert
AU  - Vezina G
FAU - Nicholson, H S
AU  - Nicholson HS
FAU - Byrne, Julianne
AU  - Byrne J
FAU - Rutka, James T
AU  - Rutka JT
FAU - Hogg, David
AU  - Hogg D
FAU - Reaman, Gregory H
AU  - Reaman GH
FAU - Goldstein, Alisa M
AU  - Goldstein AM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (GLI3 protein, human)
RN  - 0 (Kruppel-Like Transcription Factors)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (PTCH1 protein, human)
RN  - 0 (Patched Receptors)
RN  - 0 (Patched-1 Receptor)
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (Repressor Proteins)
RN  - 0 (SUFU protein, human)
RN  - 0 (Transcription Factors)
RN  - 0 (Zinc Finger Protein Gli3)
RN  - 9007-49-2 (DNA)
SB  - IM
EIN - Am J Med Genet A. 2005 Jul 15;136(2):226
MH  - Adolescent
MH  - Adult
MH  - Cerebellar Neoplasms/genetics/*pathology
MH  - Child
MH  - Child, Preschool
MH  - DNA/chemistry/genetics
MH  - DNA Mutational Analysis
MH  - DNA-Binding Proteins/genetics
MH  - Female
MH  - Humans
MH  - Infant
MH  - Kruppel-Like Transcription Factors
MH  - Male
MH  - Medulloblastoma/genetics/*pathology
MH  - Mutation
MH  - Nerve Tissue Proteins/genetics
MH  - Patched Receptors
MH  - Patched-1 Receptor
MH  - Pedigree
MH  - Receptors, Cell Surface/genetics
MH  - Repressor Proteins/genetics
MH  - Retrospective Studies
MH  - Transcription Factors/genetics
MH  - Zinc Finger Protein Gli3
EDAT- 2005/03/11 09:00
MHDA- 2005/06/28 09:00
CRDT- 2005/03/11 09:00
PHST- 2005/03/11 09:00 [pubmed]
PHST- 2005/06/28 09:00 [medline]
PHST- 2005/03/11 09:00 [entrez]
AID - 10.1002/ajmg.a.30653 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 May 1;134(4):399-403. doi: 10.1002/ajmg.a.30653.