Literature DB >> 25972696

Abnormal karyotypes in osteochondroma: Case series and literature review.

Aaron W James1, Carlos A Tirado1, Benjamin Levine2, Sarah M Dry1.   

Abstract

BACKGROUND: Osteochondroma is the most common benign bone tumor. However, there are infrequent studies karyotyping solitary osteochondromas.
METHODS: Retrospective review of the University of California, Los Angeles pathology database was performed for karyotype analyses (N = 522 specimens).
RESULTS: Two previously undescribed karyotypes were identified. First, was a karyotype showing paracentric inversion of chromosome 7. Second, was a karyotype showing monosomy 3, 6 and 13.
CONCLUSIONS: Abnormal karyotypes may be more frequently encountered in osteochondroma than previously understood. However, the clinical significance of these abnormalities are yet unknown.

Entities:  

Keywords:  Cartilage neoplasm; EXT1; Exostosis; Karyotype; Osteochondroma

Year:  2014        PMID: 25972696      PMCID: PMC4421083          DOI: 10.1016/j.jor.2013.12.015

Source DB:  PubMed          Journal:  J Orthop        ISSN: 0972-978X


  13 in total

1.  Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients.

Authors:  Károly Szuhai; Ivy Jennes; Danielle de Jong; Judith V M G Bovée; Malgorzata Wiweger; Wim Wuyts; Pancras C W Hogendoorn
Journal:  Hum Mutat       Date:  2010-12-07       Impact factor: 4.878

2.  [Multiple exostoses in a skeleton from a prehistoric cemetary of the former population of Pruszcz Gdanski].

Authors:  J Gladykowska-Rzeczycka; M Urbanowicz
Journal:  Folia Morphol (Warsz)       Date:  1970       Impact factor: 1.183

Review 3.  Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

Authors:  L Potocki; L G Shaffer
Journal:  Am J Med Genet       Date:  1996-03-29

4.  Genetic heterogeneity in families with hereditary multiple exostoses.

Authors:  A Cook; W Raskind; S H Blanton; R M Pauli; R G Gregg; C A Francomano; E Puffenberger; E U Conrad; G Schmale; G Schellenberg
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

5.  The natural history of hereditary multiple exostoses.

Authors:  G A Schmale; E U Conrad; W H Raskind
Journal:  J Bone Joint Surg Am       Date:  1994-07       Impact factor: 5.284

6.  Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.

Authors:  J T Hecht; D Hogue; Y Wang; S H Blanton; M Wagner; L C Strong; W Raskind; M F Hansen; D Wells
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

7.  Osteochondroma in a skeleton from an 11th century Croatian cemetery.

Authors:  M Slaus; D Orlić; M Pećina
Journal:  Croat Med J       Date:  2000-09       Impact factor: 1.351

8.  Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.

Authors:  Y Q Wu; P Heutink; B B de Vries; L A Sandkuijl; A M van den Ouweland; M F Niermeijer; H Galjaard; E Reyniers; P J Willems; D J Halley
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

9.  A gene for hereditary multiple exostoses maps to chromosome 19p.

Authors:  M Le Merrer; L Legeai-Mallet; P M Jeannin; B Horsthemke; A Schinzel; H Plauchu; A Toutain; F Achard; A Munnich; P Maroteaux
Journal:  Hum Mol Genet       Date:  1994-05       Impact factor: 6.150

10.  Osteochondroma in a British neolithic skeleton.

Authors:  A T Chamberlain; S Rogers; C A Romanowski
Journal:  Br J Hosp Med       Date:  1992 Jan 9-22
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