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Molecular characterization of the t(4;12)(q27~28;q14~15) chromosomal rearrangement in lipoma

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ABSTRACT

Lipomas are common benign soft tissue tumors whose genetic and cytogenetic features are well characterized. The karyotype is usually near- or pseudodiploid with characteristic structural chromosomal aberrations. The most common rearrangements target the high mobility group AT-hook 2 (HMGA2) gene in 12q14.3, with breakpoints occurring within or outside of the gene locus leading to deregulation of HMGA2. The most common fusion partner for HMGA2 in lipoma is lipoma-preferred partner (3q27), but also other genes frequently recombine with HMGA2. Furthermore, truncated HMGA2 transcripts are recurrently observed in lipomas. The present study describes 5 lipomas carrying the translocation t(4;12)(q27~28;q14~15) as the sole chromosomal anomaly, as well as 1 lipoma in which the three-way translocation t(1;4;12)(q21;q27~28;q14~15) was identified. Molecular analyses performed on 4 of these cases detected 4 truncated forms of HMGA2. In 3 tumors, the HMGA2 truncated transcripts included sequences originating from the chromosomal sub-band 4q28.1. Notably, in 2 of these cases, the fourth exon of HMGA2 was fused to transposable elements located in 4q28.1.

No MeSH data available.


Partial karyotypes of cases 1 and 2. (A) In case 1, the der(4) t(4;12)(q27~28; q14~15) and der(12) t(4;12), together with the corresponding normal chromosome homologs, are shown. (B) In case 2, the der(1), der(4) and der(12) are shown, together with the corresponding normal chromosome homologs from the t(1;4;12)(q21;q27~28;q14~15). Breakpoint positions are indicated by arrows. der, derivative chromosome
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f1-ol-0-0-4834: Partial karyotypes of cases 1 and 2. (A) In case 1, the der(4) t(4;12)(q27~28; q14~15) and der(12) t(4;12), together with the corresponding normal chromosome homologs, are shown. (B) In case 2, the der(1), der(4) and der(12) are shown, together with the corresponding normal chromosome homologs from the t(1;4;12)(q21;q27~28;q14~15). Breakpoint positions are indicated by arrows. der, derivative chromosome

Mentions: Table I contains the patients' gender, age and diagnosis, and the location, karyotype, HMGA2 expression and HMGA2 fusions of the examined lipomatous tumors. In all 6 cases (3 males and 3 females), there was recombination between the chromosome bands 12q14~15 and 4q27~28. In total, 5 cases carried t(4;12)(q14~15;q27~28) as the sole karyotypic aberration, whereas 1 lipoma (case 2) had a three-way translocation t(1;4;12)(q21;q27~28;q14~15) (Fig. 1).


Molecular characterization of the t(4;12)(q27~28;q14~15) chromosomal rearrangement in lipoma
Partial karyotypes of cases 1 and 2. (A) In case 1, the der(4) t(4;12)(q27~28; q14~15) and der(12) t(4;12), together with the corresponding normal chromosome homologs, are shown. (B) In case 2, the der(1), der(4) and der(12) are shown, together with the corresponding normal chromosome homologs from the t(1;4;12)(q21;q27~28;q14~15). Breakpoint positions are indicated by arrows. der, derivative chromosome
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4998094&req=5

f1-ol-0-0-4834: Partial karyotypes of cases 1 and 2. (A) In case 1, the der(4) t(4;12)(q27~28; q14~15) and der(12) t(4;12), together with the corresponding normal chromosome homologs, are shown. (B) In case 2, the der(1), der(4) and der(12) are shown, together with the corresponding normal chromosome homologs from the t(1;4;12)(q21;q27~28;q14~15). Breakpoint positions are indicated by arrows. der, derivative chromosome
Mentions: Table I contains the patients' gender, age and diagnosis, and the location, karyotype, HMGA2 expression and HMGA2 fusions of the examined lipomatous tumors. In all 6 cases (3 males and 3 females), there was recombination between the chromosome bands 12q14~15 and 4q27~28. In total, 5 cases carried t(4;12)(q14~15;q27~28) as the sole karyotypic aberration, whereas 1 lipoma (case 2) had a three-way translocation t(1;4;12)(q21;q27~28;q14~15) (Fig. 1).

View Article: PubMed Central - PubMed

ABSTRACT

Lipomas are common benign soft tissue tumors whose genetic and cytogenetic features are well characterized. The karyotype is usually near- or pseudodiploid with characteristic structural chromosomal aberrations. The most common rearrangements target the high mobility group AT-hook 2 (HMGA2) gene in 12q14.3, with breakpoints occurring within or outside of the gene locus leading to deregulation of HMGA2. The most common fusion partner for HMGA2 in lipoma is lipoma-preferred partner (3q27), but also other genes frequently recombine with HMGA2. Furthermore, truncated HMGA2 transcripts are recurrently observed in lipomas. The present study describes 5 lipomas carrying the translocation t(4;12)(q27~28;q14~15) as the sole chromosomal anomaly, as well as 1 lipoma in which the three-way translocation t(1;4;12)(q21;q27~28;q14~15) was identified. Molecular analyses performed on 4 of these cases detected 4 truncated forms of HMGA2. In 3 tumors, the HMGA2 truncated transcripts included sequences originating from the chromosomal sub-band 4q28.1. Notably, in 2 of these cases, the fourth exon of HMGA2 was fused to transposable elements located in 4q28.1.

No MeSH data available.