Human pathology

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HMGA2

MIM.600698 12q14-q15

HMGI-C, HMGI-C

Pathology

- truncated HMGA2 isoforms

- 12q14 (HMGA2) rearrangements in tumors

- aggressive angiomyxoma of the lower genital tract (33%) (16990720, 17654722)

- pulmonary chondroid hamartoma (44.7%) (14621194)

- HMGA2/NFIB fusion gene in

- HMGA2/FHIT in a pleomorphic adenoma of the parotid gland (8988031)

- bisruption and aberrant expression of HMGA2 by chromosomal translocations in myeloid malignancies (15618963)

  • myelodyplasia

- HMGA2 fusion genes

  • HMGA2/RDC1 fusion protein expression in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15. (Fusion of RDC1 with HMGA2 in lipomas)

- constitutional rearrangement of HMGA2 in a phenotype including extreme somatic overgrowth, advanced endochondral bone and dental ages, a cerebellar tumor, and multiple lipomas (15593017)

- HMGA2 amplification in 12q13-15 amplification (12q13-15 amplicon) (18214854)

miRNAs

HMGA2 was identified as one of target genes of the let-7 family of miRNAs and has been found to be suppressed by let-7 in vitro. (17243163)

References

- Italiano A, Bianchini L, Keslair F, Bonnafous S, Cardot-Leccia N, Coindre JM, Dumollard JM, Hofman P, Leroux A, Mainguené C, Peyrottes I, Ranchere-Vince D, Terrier P, Tran A, Gual P, Pedeutour F. HMGA2 is the partner of MDM2 in well-differentiated and dedifferentiated liposarcomas whereas CDK4 belongs to a distinct inconsistent amplicon. Int J Cancer. 2008 Jan 23; PMID: 18214854

- Rabban JT, Dal Cin P, Oliva E. HMGA2 rearrangement in a case of vulvar aggressive angiomyxoma. Int J Gynecol Pathol. 2006 Oct;25(4):403-7. PMID: 16990720

- Dal Cin P, Thomas A, Weremowicz S. An intragenic rearrangement of HMGA2 is not necessary for lipoma formation. Cancer Genet Cytogenet. 2004 Mar;149(2):178-9. PMID: 15036898

- Dahlen A, Mertens F, Rydholm A, Brosjo O, Wejde J, Mandahl N, Panagopoulos I. Fusion, disruption, and expression of HMGA2 in bone and soft tissue chondromas. Mod Pathol. 2003 Nov;16(11):1132-40. PMID: 14614053

- Pentimalli F, Dentice M, Fedele M, Pierantoni GM, Cito L, Pallante P, Santoro M, Viglietto G, Dal Cin P, Fusco A. Suppression of HMGA2 protein synthesis could be a tool for the therapy of well differentiated liposarcomas overexpressing HMGA2. Cancer Res. 2003 Nov 1;63(21):7423-7. PMID: 14612541

- Quade BJ, Weremowicz S, Neskey DM, Vanni R, Ladd C, Dal Cin P, Morton CC. Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15. Cancer Res. 2003 Mar 15;63(6):1351-8. PMID: 12649198

- Van Dorpe J, Dal Cin P, Weremowicz S, Van Leuven F, de Wever I, Van den Berghe H, Fletcher CD, Sciot R. Translocation of the HMGI-C ( HMGA2) gene in a benign mesenchymoma (chondrolipoangioma). Virchows Arch. 2002 May;440(5):485-90. PMID: 12021922

- Kazmierczak B, Dal Cin P, Sciot R, Van den Berghe H, Bullerdiek J. Inflammatory myofibroblastic tumor with HMGIC rearrangement. Cancer Genet Cytogenet. 1999 Jul 15;112(2):156-60. PMID: 10686944

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