Bone: Subungual exostosis with t(X;6)(q13;q22) COL4A5/COL12A1

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Bone: Subungual exostosis with t(X;6)(q13;q22) COL4A5/COL12A1

Written	2007-07	Clelia Tiziana Storlazzi, Fredrik Mertens
		Department of Genetics, Microbiology, University of Bari, Bari, Italy (CTS); Department of Clinical Genetics, Lund University Hospital, Lund, Sweden (FM)

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C400-C403,C408-C414,C418-C419 BONES & JOINTS

Atlas_Id 5526

Phylum Bones::Subungual exostosis

Other names Dupuytren's exostosis

Classification

Note Benign bone-producing neoplasm of unknown cellular origin.

Clinics and Pathology

Disease Subungual exostosis.

Phenotype / cell stem origin Unknown.

Embryonic origin Unknown.

Etiology Unknown.

Epidemiology Affects children and young adults.

Clinics Subungual exostosis usually presents as a slowly growing, painful mass localized dorsomedially in the distal phalanx, and in contrast to osteochondroma, there is usually no continuity with the underlying cortex.

Treatment Surgical excision, but local recurrences are not uncommon.

Prognosis Excellent.

Cytogenetics

Cytogenetics
Morphological t(X;6)(q22;q13-14).

Partial G-banding karyotype showing chromosomes 6 and X in a case of subungual exostosis. The arrows indicate the breakpoints.

Cytogenetics Molecular A Probe specific for COL12A1 (RP11-815E21) identified the breakpoint in 6q14.1, as it showed splitting signals on der(X) and der(6). On the same chromosomes, these signals colocalized with the signals of RP11-815E21, encompassing the COL4A5 and IRS4 genes in band Xq22.3.

FISH experiment revealing the breakpoint regions on both chromosomes 6 and X on a case of subungual exostosis.

Probes RP11-815E21 (COL4A5 and IRS4); RP11-1072D13 (COL12A1).

Variants The breakpoint on chromosome 6 could be centromeric to COL4A5, in an unknown location.

Genes involved and Proteins

Gene Name COL4A5 (collagen type IV alpha 5 chain)

Location Xq22.3

Note It is currently unknown whether any of these two genes is involved in the pathogenesis of subungual exostosis.

Dna / Rna Genomic (chrX:107,569,810-107,827,431). Three transcript variants: isoform 1 (NM_000495), isoform 2 (NM_033380), isoform 3 (NM_03338).

Protein Three proteins, respectively encoded by the isoform 1 (695 aa), isoform 2 (1691 aa), and isoform 3 (1688 aa).

Gene Name COL12A1 (collagen type XII alpha 1 chain)

Location 6q13

Dna / Rna Genomic (chr6:75,850,762-75,972,343). Two transcript variants, a long (NM_004370) and a short isoform (NM_080645).

Protein Two proteins: 1899 amino acids (aa) and 3063 aa, respectively encoded by the short and long transcript isoforms.

Result of the chromosomal anomaly

Hybrid Gene
Note No detected fusion gene.

To be noted

To elucidate how the transcription of these genes is affected by the translocation, further fresh or fresh frozen samples need to be studied.

Bibliography

Clonal chromosome abnormalities in a so-called Dupuytren's subungual exostosis.

Dal Cin P, Pauwels P, Poldermans LJ, Sciot R, Van den Berghe H

Genes, chromosomes & cancer. 1999 ; 24 (2) : 162-164.

PMID 9885985

Subungual exostosis of the third toe.

Ilyas W, Geskin L, Joseph AK, Seraly MP

Journal of the American Academy of Dermatology. 2001 ; 45 (6 Suppl) : S200-S201.

PMID 11712058

Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation.

Murphey MD, Choi JJ, Kransdorf MJ, Flemming DJ, Gannon FH

Radiographics : a review publication of the Radiological Society of North America, Inc. 2000 ; 20 (5) : 1407-1434.

PMID 10992031

Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22).

Storlazzi CT, Wozniak A, Panagopoulos I, Sciot R, Mandahl N, Mertens F, Debiec-Rychter M

International journal of cancer. Journal international du cancer. 2006 ; 118 (8) : 1972-1976.

PMID 16284948

Distinct chromosomal rearrangements in subungual (Dupuytren) exostosis and bizarre parosteal osteochondromatous proliferation (Nora lesion).

Zambrano E, Nosé V, Perez-Atayde AR, Gebhardt M, Hresko MT, Kleinman P, Richkind KE, Kozakewich HP

The American journal of surgical pathology. 2004 ; 28 (8) : 1033-1039.

PMID 15252309

Citation

This paper should be referenced as such :

Storlazzi, CT ; Mertens, F

Bone: Subungual exostosis with t(X;6)(q13;q22)

Atlas Genet Cytogenet Oncol Haematol. 2008;12(3):253-254.

Free journal version : [ pdf ] [ DOI ]

On line version : http://AtlasGeneticsOncology.org/Tumors/SubungExosttX6ID5526.html

Translocations implicated (Data extracted from papers in the Atlas)

t(X;6)(q13;q22) COL4A5 and COL12A1

External links

Mitelman database t(X;6)(q13;q22) [CaseList] t(X;6)(q13;q22) [Transloc - MCList] COL4A5 Fusion - MCList]
COSMIC [ ] [ ]

arrayMap Topo ( C40,C41) arrayMap ((UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments]

Disease database Bone: Subungual exostosis with t(X;6)(q13;q22) COL4A5/COL12A1

REVIEW articles automatic search in PubMed

Last year articles automatic search in PubMed

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.

ICD-Topo	C400-C403,C408-C414,C418-C419 BONES & JOINTS
Atlas_Id	5526
Phylum	Bones::Subungual exostosis

Other names	Dupuytren's exostosis

Disease	Subungual exostosis.
Phenotype / cell stem origin	Unknown.
Embryonic origin	Unknown.
Etiology	Unknown.
Epidemiology	Affects children and young adults.
Clinics	Subungual exostosis usually presents as a slowly growing, painful mass localized dorsomedially in the distal phalanx, and in contrast to osteochondroma, there is usually no continuity with the underlying cortex.
Treatment	Surgical excision, but local recurrences are not uncommon.
Prognosis	Excellent.

Cytogenetics Morphological	t(X;6)(q22;q13-14).


	Partial G-banding karyotype showing chromosomes 6 and X in a case of subungual exostosis. The arrows indicate the breakpoints.

Cytogenetics Molecular	A Probe specific for COL12A1 (RP11-815E21) identified the breakpoint in 6q14.1, as it showed splitting signals on der(X) and der(6). On the same chromosomes, these signals colocalized with the signals of RP11-815E21, encompassing the COL4A5 and IRS4 genes in band Xq22.3.


	FISH experiment revealing the breakpoint regions on both chromosomes 6 and X on a case of subungual exostosis.

Probes	RP11-815E21 (COL4A5 and IRS4); RP11-1072D13 (COL12A1).
Variants	The breakpoint on chromosome 6 could be centromeric to COL4A5, in an unknown location.

Gene Name	COL4A5 (collagen type IV alpha 5 chain)
Location	Xq22.3
Note	It is currently unknown whether any of these two genes is involved in the pathogenesis of subungual exostosis.
Dna / Rna	Genomic (chrX:107,569,810-107,827,431). Three transcript variants: isoform 1 (NM_000495), isoform 2 (NM_033380), isoform 3 (NM_03338).
Protein	Three proteins, respectively encoded by the isoform 1 (695 aa), isoform 2 (1691 aa), and isoform 3 (1688 aa).

Gene Name	COL12A1 (collagen type XII alpha 1 chain)
Location	6q13
Dna / Rna	Genomic (chr6:75,850,762-75,972,343). Two transcript variants, a long (NM_004370) and a short isoform (NM_080645).
Protein	Two proteins: 1899 amino acids (aa) and 3063 aa, respectively encoded by the short and long transcript isoforms.

Mitelman database	t(X;6)(q13;q22) [CaseList] t(X;6)(q13;q22) [Transloc - MCList] COL4A5 Fusion - MCList]
COSMIC	[ ] [ ]
arrayMap	Topo ( C40,C41) arrayMap ((UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments]


Disease database	Bone: Subungual exostosis with t(X;6)(q13;q22) COL4A5/COL12A1

REVIEW articles	automatic search in PubMed
Last year articles	automatic search in PubMed