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.

Vulvar angiomyxoma, aggressive angiomyxoma, and angiomyofibroblastoma: an immunohistochemical and ultrastructural study.Ultrastruct Pathol. 2006 May-Jun;30(3):193-205.

To investigate the histogenetical unifying theory of a single, pluripotential primitive cell for vulvar angiomyxoma, aggresive angiomyxoma, and angiomyofibroblastoma, an optical, immunohistochemical and ultrastructural study of a superficial angiomyxoma, aggressive angiomyxoma, and angiomyofibroblastoma was performed. These three tumors showed immunohistochemical and ultrastructural overlapping features. The results of the study suggest that these three tumor entities probably arise on a common pluripotential primitive cell located around the vessels of connective tissue, which could show the capacity for modulating its penotype toward similar but distinct mature cell types.