PMID- 15066327
OWN - NLM
STAT- MEDLINE
DCOM- 20040630
LR  - 20220316
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 150
IP  - 2
DP  - 2004 Apr 15
TI  - Fluorescence in situ hybridization analysis of allelic losses involving the long 
      arm of chromosome 17 in NF1-associated neurofibromas.
PG  - 168-72
AB  - Neurofibromatosis type 1 (NF1) is a common autosomal dominant condition 
      associated with germline mutations of the NF1 gene located at chromosome band 
      17q11.2. Molecular analysis of a number of NF1-specific tumors has shown the 
      inactivation of both NF1 alleles during tumorigenesis, supporting the tumor 
      suppressor hypothesis for the NF1 gene. Using interphase dual-color fluorescence 
      in situ hybridization (FISH) technique on paraffin-embedded tissues, we studied 
      11 plexiform, 4 cutaneous, and 6 subcutaneous neurofibromas. Cytogenetic analysis 
      was conducted using two probes, one specific for the NF1 region (RP11-229K15) and 
      one for the centromeric region of chromosome 17 as control. No large somatic 
      deletions were found. Only in one of the plexiform neurofibromas loss of a whole 
      chromosome 17 was observed. If we assume that dual-color FISH analysis is 
      sensitive enough to detect the majority of large somatic deletions present, then 
      other mutational mechanisms affecting the NF1 gene are probably involved in 
      neurofibroma formation, and other tumor suppressor genes may play an important 
      role in NF1 tumorigenesis.
FAU - De Luca, Alessandro
AU  - De Luca A
AD  - IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Viale Regina Margherita 
      261, 00198 Rome, Italy. a.deluca@css-mendel.it
FAU - Bernardini, Laura
AU  - Bernardini L
FAU - Ceccarini, Caterina
AU  - Ceccarini C
FAU - Sinibaldi, Lorenzo
AU  - Sinibaldi L
FAU - Novelli, Antonio
AU  - Novelli A
FAU - Giustini, Sandra
AU  - Giustini S
FAU - Daniele, Innocenzi
AU  - Daniele I
FAU - Calvieri, Stefano
AU  - Calvieri S
FAU - Mingarelli, Rita
AU  - Mingarelli R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 17/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Neurofibromatosis 1/*genetics
MH  - Sequence Deletion
EDAT- 2004/04/07 05:00
MHDA- 2004/07/01 05:00
CRDT- 2004/04/07 05:00
PHST- 2003/07/29 00:00 [received]
PHST- 2003/08/29 00:00 [revised]
PHST- 2003/09/02 00:00 [accepted]
PHST- 2004/04/07 05:00 [pubmed]
PHST- 2004/07/01 05:00 [medline]
PHST- 2004/04/07 05:00 [entrez]
AID - S0165460803003911 [pii]
AID - 10.1016/j.cancergencyto.2003.09.001 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2004 Apr 15;150(2):168-72. doi: 
      10.1016/j.cancergencyto.2003.09.001.