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Review
. 2008 Mar;181(2):119-24.
doi: 10.1016/j.cancergencyto.2007.11.008.

Aggressive angiomyxoma with t(12;21) and HMGA2 rearrangement: report of a case and review of the literature

Neil J Rawlinson  1 , William W West, Marilu Nelson, Julia A Bridge
Affiliations
Review

Aggressive angiomyxoma with t(12;21) and HMGA2 rearrangement: report of a case and review of the literature

Neil J Rawlinson et al. Cancer Genet Cytogenet. 2008 Mar.

Abstract

Conventional cytogenetic analysis of an aggressive angiomyxoma of the rectal wall of a 72-year-old woman revealed a translocation between the long arms of chromosomes 12 and 21, with the karyotype 46,XX,t(12;21)(q15;q21.1). Involvement of the HMGA2 gene locus (12q15) was confirmed by fluorescence in situ hybridization using an HMGA2 breakpoint flanking probe set performed on metaphase and interphase cells from an in situ culture of fresh lesional tissue. Karyotypic rearrangements of 12q13 approximately q15 are considered recurrent in aggressive angiomyxoma, although reported in only five previous cases. Translocation partner chromosome 21 is unique to the present case.

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Figures

Figure 1
Figure 1
A, The hypocellular perirectal mass is composed of cytologically bland spindle-shaped cells in a myxoid background (H & E 200x). B, Tumor cells demonstrating HMGA2 immunoreactivity (200x).
Figure 2
Figure 2
A, Representative karyotype illustrating the 12;21 translocation (arrows). B, Loss of the probe signal distal to the HMGA2 locus can be seen consistent with an HMGA2 rearrangement.
See this image and copyright information in PMC

References

    1. Steeper TA, Rosai J. Aggressive angiomyxoma of the female pelvis and perineum. Report of nine cases of a distinctive type of gynecologic soft-tissue neoplasm. Am J Surg Pathol. 1983;7:463–75. - PubMed
    1. Tavassoli FA, Devilee P, editors. World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of the Breast and Female Genital Organs. IARC Press; Lyon: 2003. pp. 305–329.
    1. Simo M, Zapata C, Esquius J, Domingo J. Aggressive angiomyxoma of the female pelvis and perinenm. Report of two cases and review of the literature. Br J Obstet Gynaecol. 1992;99:925–27. - PubMed
    1. Boudhraa K, Oueslati H, Chtourou M, Neji K, Barouni M, Horchani A, Ben Romdhane K, Reziga H. “Aggressive” angiomyxoma of the vagina. A case report and review of the literature. Tunis Med. 2003;81:140–4. Article in French. - PubMed
    1. Papachristou DJ, Batistatou A, Paraskevaidis E, Agnantis NJ. Aggressive angiomyxoma of the vagina: a case report and review of the literature. Eur J Gynaecol Oncol. 2004;25:519–21. - PubMed