PMID- 15044915
OWN - NLM
STAT- MEDLINE
DCOM- 20041102
LR  - 20230210
IS  - 0893-3952 (Print)
IS  - 0893-3952 (Linking)
VI  - 17
IP  - 5
DP  - 2004 May
TI  - Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: 
      aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization.
PG  - 518-25
AB  - Aneurysmal bone cyst is a benign, cystic lesion of bone composed of blood-filled 
      spaces separated by fibrous septa. Relatively few cases of aneurysmal bone cyst 
      have been cytogenetically characterized, yet abnormalities of the short arm of 
      chromosome 17 appear to be recurrent. In this study, conventional cytogenetic 
      analysis of 43 aneurysmal bone cyst specimens from 38 patients over a 12-year 
      period revealed clonal chromosomal abnormalities in 12 specimens. Karyotypic 
      anomalies of 17p, including a complex translocation and inversion, were 
      identified in eight of these 12 specimens. In an effort to further define the 
      aberrant 17p breakpoint, fluorescence in situ hybridization (FISH) analyses were 
      performed using a series of probe combinations spanning a 5.1 Mb region between 
      the TP53 (17p13.1) and Miller-Dieker lissencephaly syndrome (17p13.3) gene loci. 
      These studies revealed the critical breakpoint locus at 17p13.2, flanked 
      proximally by an RP11-46I8, RP11-333E1, and RP11-457I18 bacterial artificial 
      chromosome (BAC) probe cocktail and distally by an RP11-198F11 and RP11-115H24 
      BAC and RP5-1050D4 P1 artificial chromosome (PAC) probe cocktail. Overall, 
      abnormalities of the 17p13.2 locus were identified by metaphase and/or interphase 
      cell FISH analysis in 22 of 35 (63%) aneurysmal bone cyst specimens examined 
      including 26 karyotypically normal specimens. These cytogenetic and molecular 
      cytogenetic findings expand our knowledge of chromosomal alterations in 
      aneurysmal bone cyst, further localize the critically involved 17p breakpoint, 
      and provide an alternative approach (ie FISH) for detecting 17p abnormalities in 
      nondividing cells of aneurysmal bone cysts. The latter could potentially be 
      utilized as an adjunct in diagnostically challenging cases.
FAU - Althof, Pamela A
AU  - Althof PA
AD  - Department of Pathology and Microbiology, University of Nebraska Medical Center, 
      Omaha, NE 68198-3135, USA.
FAU - Ohmori, Kazuo
AU  - Ohmori K
FAU - Zhou, Ming
AU  - Zhou M
FAU - Bailey, Jacqueline M
AU  - Bailey JM
FAU - Bridge, R Stuart
AU  - Bridge RS
FAU - Nelson, Marilu
AU  - Nelson M
FAU - Neff, James R
AU  - Neff JR
FAU - Bridge, Julia A
AU  - Bridge JA
LA  - eng
GR  - P30 CA 36727/CA/NCI NIH HHS/United States
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  - Mod Pathol
JT  - Modern pathology : an official journal of the United States and Canadian Academy 
      of Pathology, Inc
JID - 8806605
SB  - IM
MH  - Adult
MH  - Bone Cysts, Aneurysmal/*genetics/pathology
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosome Inversion
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Chromosomes, Human, Pair 6/genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Translocation, Genetic
EDAT- 2004/03/27 05:00
MHDA- 2004/11/04 09:00
CRDT- 2004/03/27 05:00
PHST- 2004/03/27 05:00 [pubmed]
PHST- 2004/11/04 09:00 [medline]
PHST- 2004/03/27 05:00 [entrez]
AID - S0893-3952(22)04373-3 [pii]
AID - 10.1038/modpathol.3800090 [doi]
PST - ppublish
SO  - Mod Pathol. 2004 May;17(5):518-25. doi: 10.1038/modpathol.3800090.