PMID- 15457990
OWN - NLM
STAT- MEDLINE
DCOM- 20041102
LR  - 20151008
IS  - 0029-0203 (Print)
IS  - 0029-0203 (Linking)
VI  - 108
IP  - 8
DP  - 2004 Aug
TI  - [Genetic diagnosis of retinoblastoma by a combination of fluorescence in situ 
      hybridization and restriction fragment length polymorphism].
PG  - 482-8
AB  - PURPOSE: It is important to exclude germ line mutation in cases of unilateral 
      retinoblastoma(RB) to estimate hereditary or possible secondary cancer. We 
      investigated whether genetic diagnosis is feasible in a health check screening 
      program. METHODS: Five patients with RB had surgery for enucleation in Keio 
      University Hospital. Tumor cells from enucleated eyes and lymphocytes 
      representing systemic cells were collected and analyzed genetically by 
      fluorescence in situ hybridization(FISH) and restriction fragment length 
      polymorphism (RFLP). RESULTS: One out of three unilateral RB cases could be 
      diagnosed as non-hereditary by the finding of no copies of the RB gene in the 
      tumor cells using the FISH method and no signal in the RFLP method. A decrease of 
      signal in tumor cells to less than 50% in the RFLP method was observed in another 
      case of unilateral RB that seemed to be non-hereditary, but the case ultimately 
      could not be diagnosed as non-hereditary because polycopies were found in the 
      FISH method. No abnormality in tumor cells could be found in another unilateral 
      case or in systemic cells of two bilateral cases. CONCLUSION: A combination of 
      FISH and RFLP methods can be used to diagnose some cases of RB as non-hereditary.
FAU - Hato, Shin
AU  - Hato S
AD  - Department of Ophthalmology, Keio University School of Medicine. 35 Shinanomachi, 
      Shinjuku-ku, Tokyo 160-8582, Japan.
FAU - Inoue, Makoto
AU  - Inoue M
FAU - Ishikawa, Kaoru
AU  - Ishikawa K
FAU - Noda, Kosuke
AU  - Noda K
FAU - Tanino, Tomihiko
AU  - Tanino T
FAU - Mashima, Yukihiko
AU  - Mashima Y
FAU - Kosaki, Kenjiro
AU  - Kosaki K
FAU - Oguchi, Yoshihisa
AU  - Oguchi Y
LA  - jpn
PT  - English Abstract
PT  - Journal Article
PL  - Japan
TA  - Nippon Ganka Gakkai Zasshi
JT  - Nippon Ganka Gakkai zasshi
JID - 7505716
SB  - IM
MH  - Child, Preschool
MH  - Female
MH  - Genes, Retinoblastoma/genetics
MH  - Germ-Line Mutation
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Molecular Diagnostic Techniques/*methods
MH  - *Polymorphism, Restriction Fragment Length
MH  - Retinal Neoplasms/*diagnosis/genetics
MH  - Retinoblastoma/*diagnosis/genetics
EDAT- 2004/10/02 05:00
MHDA- 2004/11/04 09:00
CRDT- 2004/10/02 05:00
PHST- 2004/10/02 05:00 [pubmed]
PHST- 2004/11/04 09:00 [medline]
PHST- 2004/10/02 05:00 [entrez]
PST - ppublish
SO  - Nippon Ganka Gakkai Zasshi. 2004 Aug;108(8):482-8.