PMID- 19648885
OWN - NLM
STAT- MEDLINE
DCOM- 20100219
LR  - 20230210
IS  - 1530-0285 (Electronic)
IS  - 0893-3952 (Print)
IS  - 0893-3952 (Linking)
VI  - 22
IP  - 11
DP  - 2009 Nov
TI  - Aberrations of 6q13 mapped to the COL12A1 locus in chondromyxoid fibroma.
PG  - 1499-506
LID - 10.1038/modpathol.2009.101 [doi]
AB  - Chondromyxoid fibroma, a rare benign bone tumor, may be mistaken for 
      chondrosarcoma. Although cytogenetic studies of chondromyxoid fibroma are few, 
      rearrangements of the long arm of chromosome 6, frequently expressed as an 
      inv(6)(p25q13), are prominent. In this study, conventional cytogenetic analysis 
      of 16 chondromyxoid fibroma samples from 14 patients revealed rearrangements of 
      chromosome 6 in 10 of 11 clonally abnormal specimens. In addition to 6q13 
      rearrangements, recurrent 6p25 and 6q25 anomalies were detected. Notably, an 
      identical t(6;9)(q25;q22) translocation was identified in two cases, suggesting 
      that it represents a distinct translocation of chondromyxoid fibroma. In an 
      effort to further define the aberrant 6q13 breakpoint and identify the molecular 
      consequences, a fluorescence in situ hybridization (FISH)-based positional 
      cloning strategy on chondromyxoid fibroma abnormal metaphase and interphase cells 
      using a series of bacterial and plasmid artificial chromosome (BAC/PAC) probe 
      combinations spanning a 6.1 Mb region was employed. The breakpoint on 6q13 was 
      located within the COL12A1 gene, a collagen gene purportedly involved in another 
      benign bone tumor, subungual exostosis. The findings of this study expand our 
      knowledge of chromosomal alterations in chondromyxoid fibroma, identify COL12A1 
      as the likely gene candidate within the recurrent 6q13 breakpoint, and provide an 
      alternative approach for detecting 6q13 anomalies in nondividing cells of 
      chondromyxoid fibroma. The latter could potentially be utilized as an adjunct in 
      diagnostically challenging cases.
FAU - Yasuda, Taketoshi
AU  - Yasuda T
AD  - Department of Pathology and Microbiology, University of Nebraska Medical Center, 
      Omaha, NE 68198-3135, USA.
FAU - Nishio, Jun
AU  - Nishio J
FAU - Sumegi, Janos
AU  - Sumegi J
FAU - Kapels, Kayla M
AU  - Kapels KM
FAU - Althof, Pamela A
AU  - Althof PA
FAU - Sawyer, Jeffrey R
AU  - Sawyer JR
FAU - Reith, John D
AU  - Reith JD
FAU - Bridge, Julia A
AU  - Bridge JA
LA  - eng
GR  - P30 CA036727/CA/NCI NIH HHS/United States
GR  - P30 CA036727-249009/CA/NCI NIH HHS/United States
GR  - P30 CA36727/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20090731
PL  - United States
TA  - Mod Pathol
JT  - Modern pathology : an official journal of the United States and Canadian Academy 
      of Pathology, Inc
JID - 8806605
RN  - 0 (COL12A1 protein, human)
RN  - 0 (Collagen Type XII)
RN  - 9007-34-5 (Collagen)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Bone Neoplasms/*genetics
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - Collagen/*genetics
MH  - Collagen Type XII
MH  - Cytogenetic Analysis
MH  - Female
MH  - Fibroma/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
PMC - PMC2784180
MID - NIHMS124998
COIS- Disclosure/Conflict of Interest: No conflicts of interest to declare.
EDAT- 2009/08/04 09:00
MHDA- 2010/02/20 06:00
PMCR- 2010/05/01
CRDT- 2009/08/04 09:00
PHST- 2009/08/04 09:00 [entrez]
PHST- 2009/08/04 09:00 [pubmed]
PHST- 2010/02/20 06:00 [medline]
PHST- 2010/05/01 00:00 [pmc-release]
AID - S0893-3952(22)02446-2 [pii]
AID - 10.1038/modpathol.2009.101 [doi]
PST - ppublish
SO  - Mod Pathol. 2009 Nov;22(11):1499-506. doi: 10.1038/modpathol.2009.101. Epub 2009 
      Jul 31.