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Rearrangement of chromosome bands 12q14~15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma.

Panagopoulos I, Bjerkehagen B, Gorunova L, Taksdal I, Heim S - Oncol. Rep. (2015)

Bottom Line: In the second tumor, the inv(12) detected by karyotyping had resulted in an HMGA2-SOX5 fusion transcript in which exons 1-3 of HMGA2 were fused with a sequence from intron 1 of SOX5.The observed pattern is similar to rearrangements of HMGA2 found in several other benign mesenchymal tumors, i.e., disruption of the HMGA2 locus leaves intact exons 1-3 which encode the AT-hook domains and separates them from the 3'-terminal part of the gene.Our data therefore show that a subset of soft tissue osteochondromas shares pathogenetic involvement of HMGA2 with lipomas, leiomyomas and other benign connective tissue neoplasms.

View Article: PubMed Central - PubMed

Affiliation: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

ABSTRACT
We describe two cases of extraskeletal osteochondroma in which chromosome bands 12q14~15 were visibly rearranged through a pericentric inv(12). Molecular analysis of the first tumor showed that both transcript 1 (NM_003483) and transcript 2 (NM_003484) of HMGA2 were expressed. In the second tumor, the inv(12) detected by karyotyping had resulted in an HMGA2-SOX5 fusion transcript in which exons 1-3 of HMGA2 were fused with a sequence from intron 1 of SOX5. The observed pattern is similar to rearrangements of HMGA2 found in several other benign mesenchymal tumors, i.e., disruption of the HMGA2 locus leaves intact exons 1-3 which encode the AT-hook domains and separates them from the 3'-terminal part of the gene. Our data therefore show that a subset of soft tissue osteochondromas shares pathogenetic involvement of HMGA2 with lipomas, leiomyomas and other benign connective tissue neoplasms.

No MeSH data available.


Related in: MedlinePlus

Extraskeletal osteochondroma with HMGA2-SOX5 fusion transcript. Cytogenetic and PCR analyses of the case 2. (A) Partial karyotype showing the inv(12) (see text). (B) 3′-RACE amplified a single cDNA fragment (lane R). (C) RT-PCR amplification using the primers HMGA2-846F1/SOX5-Int1-R1 (lane 1). Lane M is the 1 kb Plus DNA ladder (GeneRuler, Fermentas). (D) Partial sequence chromatogram of the 3′-RACE amplified cDNA fragment showing (arrow) the fusion of exon 3 of HMGA2 with a sequence from intron 1 of SOX5. (E) Partial sequence of the 3′-RACE-amplified cDNA fragment. The primers HMGA2-846F1 and SOX5-Int1-R1 are underlined; the junction of HMGA2 and SOX5 is double underlined. The putative coding sequence is shown under the nucleotide sequence. The symbol * corresponds to the ‘taa’ stop codon.
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f4-or-34-02-0577: Extraskeletal osteochondroma with HMGA2-SOX5 fusion transcript. Cytogenetic and PCR analyses of the case 2. (A) Partial karyotype showing the inv(12) (see text). (B) 3′-RACE amplified a single cDNA fragment (lane R). (C) RT-PCR amplification using the primers HMGA2-846F1/SOX5-Int1-R1 (lane 1). Lane M is the 1 kb Plus DNA ladder (GeneRuler, Fermentas). (D) Partial sequence chromatogram of the 3′-RACE amplified cDNA fragment showing (arrow) the fusion of exon 3 of HMGA2 with a sequence from intron 1 of SOX5. (E) Partial sequence of the 3′-RACE-amplified cDNA fragment. The primers HMGA2-846F1 and SOX5-Int1-R1 are underlined; the junction of HMGA2 and SOX5 is double underlined. The putative coding sequence is shown under the nucleotide sequence. The symbol * corresponds to the ‘taa’ stop codon.

Mentions: In case 1, the G-banding analysis yielded the karyotype 46,XY,der(5)t(5;12) (q35;q14~15),der(12)t(5;12)inv(12)(p11q14~15)[8]/46,XY[3] (Fig. 3B). In case 2, the analysis yielded the karyotype 46,XY,inv(12)(qter->q14~15::p11->q13::q14~15->q13::p11->pter) [13]/46,XY,idem,t(5;13)(q13;p11)[2] (Fig. 4A).


Rearrangement of chromosome bands 12q14~15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma.

Panagopoulos I, Bjerkehagen B, Gorunova L, Taksdal I, Heim S - Oncol. Rep. (2015)

Extraskeletal osteochondroma with HMGA2-SOX5 fusion transcript. Cytogenetic and PCR analyses of the case 2. (A) Partial karyotype showing the inv(12) (see text). (B) 3′-RACE amplified a single cDNA fragment (lane R). (C) RT-PCR amplification using the primers HMGA2-846F1/SOX5-Int1-R1 (lane 1). Lane M is the 1 kb Plus DNA ladder (GeneRuler, Fermentas). (D) Partial sequence chromatogram of the 3′-RACE amplified cDNA fragment showing (arrow) the fusion of exon 3 of HMGA2 with a sequence from intron 1 of SOX5. (E) Partial sequence of the 3′-RACE-amplified cDNA fragment. The primers HMGA2-846F1 and SOX5-Int1-R1 are underlined; the junction of HMGA2 and SOX5 is double underlined. The putative coding sequence is shown under the nucleotide sequence. The symbol * corresponds to the ‘taa’ stop codon.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4487666&req=5

f4-or-34-02-0577: Extraskeletal osteochondroma with HMGA2-SOX5 fusion transcript. Cytogenetic and PCR analyses of the case 2. (A) Partial karyotype showing the inv(12) (see text). (B) 3′-RACE amplified a single cDNA fragment (lane R). (C) RT-PCR amplification using the primers HMGA2-846F1/SOX5-Int1-R1 (lane 1). Lane M is the 1 kb Plus DNA ladder (GeneRuler, Fermentas). (D) Partial sequence chromatogram of the 3′-RACE amplified cDNA fragment showing (arrow) the fusion of exon 3 of HMGA2 with a sequence from intron 1 of SOX5. (E) Partial sequence of the 3′-RACE-amplified cDNA fragment. The primers HMGA2-846F1 and SOX5-Int1-R1 are underlined; the junction of HMGA2 and SOX5 is double underlined. The putative coding sequence is shown under the nucleotide sequence. The symbol * corresponds to the ‘taa’ stop codon.
Mentions: In case 1, the G-banding analysis yielded the karyotype 46,XY,der(5)t(5;12) (q35;q14~15),der(12)t(5;12)inv(12)(p11q14~15)[8]/46,XY[3] (Fig. 3B). In case 2, the analysis yielded the karyotype 46,XY,inv(12)(qter->q14~15::p11->q13::q14~15->q13::p11->pter) [13]/46,XY,idem,t(5;13)(q13;p11)[2] (Fig. 4A).

Bottom Line: In the second tumor, the inv(12) detected by karyotyping had resulted in an HMGA2-SOX5 fusion transcript in which exons 1-3 of HMGA2 were fused with a sequence from intron 1 of SOX5.The observed pattern is similar to rearrangements of HMGA2 found in several other benign mesenchymal tumors, i.e., disruption of the HMGA2 locus leaves intact exons 1-3 which encode the AT-hook domains and separates them from the 3'-terminal part of the gene.Our data therefore show that a subset of soft tissue osteochondromas shares pathogenetic involvement of HMGA2 with lipomas, leiomyomas and other benign connective tissue neoplasms.

View Article: PubMed Central - PubMed

Affiliation: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

ABSTRACT
We describe two cases of extraskeletal osteochondroma in which chromosome bands 12q14~15 were visibly rearranged through a pericentric inv(12). Molecular analysis of the first tumor showed that both transcript 1 (NM_003483) and transcript 2 (NM_003484) of HMGA2 were expressed. In the second tumor, the inv(12) detected by karyotyping had resulted in an HMGA2-SOX5 fusion transcript in which exons 1-3 of HMGA2 were fused with a sequence from intron 1 of SOX5. The observed pattern is similar to rearrangements of HMGA2 found in several other benign mesenchymal tumors, i.e., disruption of the HMGA2 locus leaves intact exons 1-3 which encode the AT-hook domains and separates them from the 3'-terminal part of the gene. Our data therefore show that a subset of soft tissue osteochondromas shares pathogenetic involvement of HMGA2 with lipomas, leiomyomas and other benign connective tissue neoplasms.

No MeSH data available.


Related in: MedlinePlus