PMID- 8603343
OWN - NLM
STAT- MEDLINE
DCOM- 19960516
LR  - 20190816
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 86
IP  - 2
DP  - 1996 Feb
TI  - Constitutional de novo t(1;22)(p22;q11.2) and ependymoma.
PG  - 150-2
AB  - There is a body of evidence suggesting the presence of a tumor suppressor gene on 
      chromosome 22 which plays a role in the pathogenesis of ependymomas. We report a 
      patient with a de novo constitutional t(1;22)(p22;q11.2) who developed a 
      malignant ependymoma at age 5. The patient is otherwise phenotypically normal. By 
      fluorescence in situ hybridization (FISH) analysis, the chromosome 22 breakpoint 
      has been localized to the region between the DiGeorge locus and BCR. Since NF2 
      and EWS are both distal to BCR, the are presumable not involved in this 
      rearrangement. This patient may offer a unique opportunity to identify the 
      chromosome 22 ependymoma tumor suppressor gene by cloning the translocation 
      breakpoint.
FAU - Park, J P
AU  - Park JP
AD  - Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, New 
      Hampshire, USA.
FAU - Chaffee, S
AU  - Chaffee S
FAU - Noll, W W
AU  - Noll WW
FAU - Rhodes, C H
AU  - Rhodes CH
LA  - eng
PT  - Case Reports
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  - Brain Neoplasms/*genetics
MH  - Child
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 1
MH  - *Chromosomes, Human, Pair 22
MH  - Ependymoma/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - *Translocation, Genetic
EDAT- 1996/02/01 00:00
MHDA- 1996/02/01 00:01
CRDT- 1996/02/01 00:00
PHST- 1996/02/01 00:00 [pubmed]
PHST- 1996/02/01 00:01 [medline]
PHST- 1996/02/01 00:00 [entrez]
AID - 0165-4608(95)00182-4 [pii]
AID - 10.1016/0165-4608(95)00182-4 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 1996 Feb;86(2):150-2. doi: 10.1016/0165-4608(95)00182-4.