PMID- 7536457
OWN - NLM
STAT- MEDLINE
DCOM- 19950523
LR  - 20191023
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 12
IP  - 3
DP  - 1995 Mar
TI  - Detection of the t(2;13)(q35;q14) and PAX3-FKHR fusion in alveolar 
      rhabdomyosarcoma by fluorescence in situ hybridization.
PG  - 186-92
AB  - Cytogenetic studies of the pediatric solid tumor alveolar rhabdomyosarcoma have 
      demonstrated the presence of a consistent chromosomal translocation, 
      t(2;13)(q35;q14). We recently identified PAX3 and FKHR as the genes on 
      chromosomes 2 and 13, respectively, that are juxtaposed by this translocation. As 
      one means of detecting the t(2;13) translocation in clinical specimens, we have 
      developed a fluorescence in situ hybridization (FISH) assay that may be used for 
      both interphase and metaphase cells. Translocation of the 5' region of the FKHR 
      gene to the derivative chromosome 2, and retention of the 3' region of FKHR on 
      the derivative chromosome 13 [(der(13)], were demonstrated in metaphase cells 
      from a rhabdomyosarcoma cell line with a previously identified t(2;13) 
      translocation. A 5' PAX3 cosmid probe was shown to localize to 2q35 in normal 
      cells, and to translocate to the der(13) in the rhabdomyosarcoma cell line. In 
      order to detect the der(13) in interphase nuclei, we labeled the 3'FKHR and the 
      5'PAX3 cosmid probes with digoxigenin and biotin, respectively, and used these in 
      a two-color FISH assay. The presence of the der(13) was visualized as juxtaposed 
      or overlapping red and green signals in metaphase and interphase tumor cells. The 
      PAX3-FKHR FISH assay was then applied to a series of cytogenetically 
      characterized pediatric sarcoma cell lines. The presence of the der(13) was 
      demonstrated by FISH in all cases containing a cytogenetically detectable 
      t(2;13). The FISH assay was then applied to a series of 20 embryonal and alveolar 
      rhabdomyosarcoma samples. All 10 of the alveolar rhabdomyosarcoma specimens 
      demonstrated a der(13) with the FISH assay.(ABSTRACT TRUNCATED AT 250 WORDS)
FAU - Biegel, J A
AU  - Biegel JA
AD  - Division of Human Genetics and Molecular Biology, Children's Hospital of 
      Philadelphia, PA 19104, USA.
FAU - Nycum, L M
AU  - Nycum LM
FAU - Valentine, V
AU  - Valentine V
FAU - Barr, F G
AU  - Barr FG
FAU - Shapiro, D N
AU  - Shapiro DN
LA  - eng
GR  - CA21765/CA/NCI NIH HHS/United States
GR  - CA23099/CA/NCI NIH HHS/United States
GR  - CA47983/CA/NCI NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
SB  - IM
GS  - FKHR
GS  - PAX3
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 13
MH  - *Chromosomes, Human, Pair 2
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Rhabdomyosarcoma, Alveolar/*genetics
MH  - Rhabdomyosarcoma, Embryonal/genetics
MH  - Sarcoma, Ewing/genetics
MH  - *Translocation, Genetic
MH  - Tumor Cells, Cultured
EDAT- 1995/03/01 00:00
MHDA- 1995/03/01 00:01
CRDT- 1995/03/01 00:00
PHST- 1995/03/01 00:00 [pubmed]
PHST- 1995/03/01 00:01 [medline]
PHST- 1995/03/01 00:00 [entrez]
AID - 10.1002/gcc.2870120305 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 1995 Mar;12(3):186-92. doi: 10.1002/gcc.2870120305.