PMID- 18303411
OWN - NLM
STAT- MEDLINE
DCOM- 20080409
LR  - 20191210
IS  - 1052-9551 (Print)
IS  - 1052-9551 (Linking)
VI  - 17
IP  - 1
DP  - 2008 Mar
TI  - Detection of FOXO1 (FKHR) gene break-apart by fluorescence in situ hybridization 
      in formalin-fixed, paraffin-embedded alveolar rhabdomyosarcomas and its 
      clinicopathologic correlation.
PG  - 14-20
LID - 10.1097/PDM.0b013e3181255e62 [doi]
AB  - Chromosomal translocations of t(2;13)(q35;q14) and t(1;13)(p36;q14), resulting in 
      PAX3-FOXO1 (FKHR) and PAX7-FOXO1 (FKHR) gene fusions, have been found to be 
      specific molecular markers for alveolar rhabdomyosarcomas (ARMS) and can be 
      identified in approximately 80% cases. As the prognosis of ARMS is worse than 
      that of embryonal rhabdomyosarcomas (ERMS), it is important to accurately 
      distinguish between these 2 subtypes. This distinction may be difficult on the 
      basis of morphology alone. To detect the genetic alterations, reverse 
      transcriptase polymerase chain reaction (RT-PCR) or dual-color dual-fusion 
      fluorescence in situ hybridization (FISH) have been used in most studies so far. 
      In this study, we used FOXO1 (FKHR) gene break-apart FISH probe, which can detect 
      both of the translocations involving the FOXO1 gene, and tested 20 cases of 
      rhabdomyosarcoma (RMS) including 6 cases of ARMS, 8 ERMS, 1 pleomorphic type, 5 
      not otherwise specified (RMS-NOS), and 10 non-RMS sarcomas. A home-brew RT-PCR 
      that could detect both PAX3-FOXO1 and PAX7-FOXO1 was also performed. Four 
      pathologists independently reviewed all RMS and a consensus diagnosis was also 
      reached in discrepant cases. Histologic and molecular findings were correlated 
      with clinical outcomes with an average of a 49-month follow-up. FOXO1 break-apart 
      by FISH was positive in 4 of 6 (66%) ARMS and 2 of 5 (40%) RMS-NOS cases. All 
      other cases, including all ERMS, were negative. RT-PCR assay confirmed all FISH 
      results. While 2 of 6 (33%) RMS patients with a FOXO1 break-apart died of the 
      disease, there were no deaths among the patients with negative result. The FOXO1 
      gene break-apart FISH probe is a simple and accurate tool to detect the 
      translocations associated with ARMS. As characteristic genetic alterations of 
      ARMS can be identified in 40% of RMS-NOS cases in our study, the FISH assay would 
      provide an additional useful tool in the diagnosis and prognosis of ARMS, and an 
      alternative to RT-PCR.
FAU - Mehra, Shveta
AU  - Mehra S
AD  - Department of Pathology, SUNY Upstate Medical University, Syracuse, NY, USA.
FAU - de la Roza, Gustavo
AU  - de la Roza G
FAU - Tull, Jamie
AU  - Tull J
FAU - Shrimpton, Antony
AU  - Shrimpton A
FAU - Valente, Alfredo
AU  - Valente A
FAU - Zhang, Shengle
AU  - Zhang S
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PL  - United States
TA  - Diagn Mol Pathol
JT  - Diagnostic molecular pathology : the American journal of surgical pathology, part 
      B
JID - 9204924
RN  - 0 (FOXO1 protein, human)
RN  - 0 (Forkhead Box Protein O1)
RN  - 0 (Forkhead Transcription Factors)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 1HG84L3525 (Formaldehyde)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Base Sequence
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Breakage
MH  - Chromosomes, Human, Pair 1
MH  - Chromosomes, Human, Pair 13
MH  - Chromosomes, Human, Pair 2
MH  - Female
MH  - Forkhead Box Protein O1
MH  - Forkhead Transcription Factors/*genetics
MH  - Formaldehyde/*pharmacology
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Muscle Neoplasms/*diagnosis/*genetics
MH  - Oncogene Proteins, Fusion/genetics
MH  - *Paraffin Embedding
MH  - Prognosis
MH  - Rhabdomyosarcoma, Alveolar/*diagnosis/*genetics
MH  - Translocation, Genetic
MH  - Tumor Cells, Cultured
EDAT- 2008/02/28 09:00
MHDA- 2008/04/10 09:00
CRDT- 2008/02/28 09:00
PHST- 2008/02/28 09:00 [pubmed]
PHST- 2008/04/10 09:00 [medline]
PHST- 2008/02/28 09:00 [entrez]
AID - 10.1097/PDM.0b013e3181255e62 [doi]
PST - ppublish
SO  - Diagn Mol Pathol. 2008 Mar;17(1):14-20. doi: 10.1097/PDM.0b013e3181255e62.