PMID- 16721726
OWN - NLM
STAT- MEDLINE
DCOM- 20061106
LR  - 20181201
IS  - 0022-3417 (Print)
IS  - 0022-3417 (Linking)
VI  - 209
IP  - 4
DP  - 2006 Aug
TI  - Identification of a novel amplicon at distal 17q containing the BIRC5/SURVIVIN 
      gene in malignant peripheral nerve sheath tumours.
PG  - 492-500
AB  - Previous studies have suggested that amplification of genes, notably the TOP2A 
      gene, on chromosome arm 17q may be important for the development of malignant 
      peripheral nerve sheath tumour (MPNST). In order to study the frequency, 
      distribution, and chromosomal organization of rearrangements at 17q, interphase 
      and metaphase fluorescence in situ hybridization (FISH) were used to evaluate 
      copy number changes at 17q in 28 MPNSTs. Increased copy numbers were seen for the 
      ERBB2 and TOP2A genes in eight and nine cases, respectively, supporting a 
      potential role for these two genes in MPNST tumourigenesis. Net gain of distal 
      17q material was observed in 16 of the 28 MPNSTs, with high-level gain in three 
      cases, and was associated with poor outcome. Among the 26 patients for whom 
      follow-up data were available, gain of distal 17q was present in 11 of 12 tumours 
      that had metastasized, compared with 4 of 14 of those that had not metastasized. 
      Detailed FISH mapping analysis of metaphase spreads identified a 2 Mb commonly 
      gained/amplified region at 17q25. Among the genes mapping to this region, BIRC5, 
      which encodes the baculoviral IAP repeat-containing protein 5/survivin protein, 
      is a strong candidate target gene for amplification, as it has been previously 
      shown to be overexpressed in neurofibromatosis type 1-associated MPNST. Three 
      other genes that co-amplified with BIRC5 represent other potential candidate 
      genes: PTDSR involved in apoptosis; SEPT9 overexpressed in human malignant brain 
      tumours; and SOCS3 involved in cell survival and differentiation of neurons.
CI  - Copyright 2006 Pathological Society of Great Britain and Ireland.
FAU - Storlazzi, C T
AU  - Storlazzi CT
AD  - Department of Genetics and Microbiology, University of Bari, Italy. 
      c.storlazzi@biologia.uniba.it
FAU - Brekke, H R
AU  - Brekke HR
FAU - Mandahl, N
AU  - Mandahl N
FAU - Brosjo, O
AU  - Brosjo O
FAU - Smeland, S
AU  - Smeland S
FAU - Lothe, R A
AU  - Lothe RA
FAU - Mertens, F
AU  - Mertens F
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Pathol
JT  - The Journal of pathology
JID - 0204634
RN  - 0 (BIRC5 protein, human)
RN  - 0 (Inhibitor of Apoptosis Proteins)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Survivin)
RN  - EC 5.99.1.3 (DNA Topoisomerases, Type II)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 17
MH  - DNA Topoisomerases, Type II/genetics
MH  - Female
MH  - Follow-Up Studies
MH  - Gene Amplification
MH  - Gene Dosage
MH  - *Genes, Neoplasm
MH  - Genes, erbB-2
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Inhibitor of Apoptosis Proteins
MH  - Interphase
MH  - Male
MH  - Metaphase
MH  - Microtubule-Associated Proteins/*genetics
MH  - Middle Aged
MH  - Neoplasm Proteins/*genetics
MH  - Nerve Sheath Neoplasms/*genetics/pathology/secondary
MH  - Neurofibromatosis 1/genetics/pathology
MH  - Sarcoma/*genetics/pathology/secondary
MH  - Survivin
EDAT- 2006/05/25 09:00
MHDA- 2006/11/07 09:00
CRDT- 2006/05/25 09:00
PHST- 2006/05/25 09:00 [pubmed]
PHST- 2006/11/07 09:00 [medline]
PHST- 2006/05/25 09:00 [entrez]
AID - 10.1002/path.1998 [doi]
PST - ppublish
SO  - J Pathol. 2006 Aug;209(4):492-500. doi: 10.1002/path.1998.