PMID- 15343507
OWN - NLM
STAT- MEDLINE
DCOM- 20041021
LR  - 20190722
IS  - 0046-8177 (Print)
IS  - 0046-8177 (Linking)
VI  - 35
IP  - 9
DP  - 2004 Sep
TI  - Molecular cytogenetic characterization of recurrent translocation breakpoints in 
      bizarre parosteal osteochondromatous proliferation (Nora's lesion).
PG  - 1063-9
AB  - Bizarre parosteal osteochondromatous proliferation (BPOP), or Nora's lesion, is a 
      rare tumorous lesion with aggressive growth that affects primarily the small 
      tubular bones in the distal extremities and often recurs after excision. No 
      previous cytogenetic data on BPOP are available. In the present study, lesions 
      from 5 patients were investigated by chromosome banding and fluorescence in situ 
      hybridization (FISH) analyses. Patient age ranged from 24 to 46 years, and the 
      lesions were located in the fingers in 4 cases and in a toe in 1 case. 
      Histological sections from all 5 tumors were characterized by a mixture of 
      hypercellular cartilage, cancellous bone, and spindle cell components. Samples 
      from 2 patients were available for cytogenetic analysis. One of these showed a 
      normal female karyotype, and the other revealed a balanced translocation, 
      t(1;17)(q32;q21), as the sole anomaly. The translocation was further 
      characterized by 3-color metaphase FISH analyses, using 17 1q32-specific and 18 
      17q21-specific bacterial artificial chromosome probes, to map the precise 
      location of the breakpoints. Split signals were detected by the RP11-99A19 probe 
      in chromosome 1 and by the RP11-219F9 probe in chromosome 17. To determine 
      whether these rearrangements are characteristic features of BPOP, 
      paraffin-embedded tissue sections from all 5 patients were investigated by 
      interphase FISH analyses. All 5 cases had a break in 1q32, and 4 of the 5 cases 
      showed a break in the 17q21 region. The results strongly indicate that 
      t(1;17)(q32;q21), or variant translocations involving 1q32, are recurrent and 
      unique aberrations in BPOP. Several genes are located within the 2 sequences 
      spanning the breakpoints, and further studies should be performed to determine 
      whether any of these are involved in the formation of a fusion gene.
FAU - Nilsson, Malin
AU  - Nilsson M
AD  - Department of Clinical Genetics and Pathology, University Hospital, Lund, Sweden.
FAU - Domanski, Henryk A
AU  - Domanski HA
FAU - Mertens, Fredrik
AU  - Mertens F
FAU - Mandahl, Nils
AU  - Mandahl N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
SB  - IM
MH  - Adult
MH  - Bone Neoplasms/*genetics
MH  - Chromosome Aberrations
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Female
MH  - Fingers/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Osteochondroma/*genetics
MH  - Toes/pathology
MH  - *Translocation, Genetic
EDAT- 2004/09/03 05:00
MHDA- 2004/10/22 09:00
CRDT- 2004/09/03 05:00
PHST- 2004/09/03 05:00 [pubmed]
PHST- 2004/10/22 09:00 [medline]
PHST- 2004/09/03 05:00 [entrez]
AID - S0046817704001364 [pii]
AID - 10.1016/j.humpath.2004.02.008 [doi]
PST - ppublish
SO  - Hum Pathol. 2004 Sep;35(9):1063-9. doi: 10.1016/j.humpath.2004.02.008.