Aggressive Angiomyxoma of the Vulva With a Sole t(5;8)(p15;q22) Chromosome Change

Abstract

Aggressive angiomyxoma of the vulva is uncommon and the pathogenesis remains unclear. Recently, a few cytogenetic studies demonstrated chromosomal abnormalities in aggressive angiomyxoma of the vulva. A 45-year-old Japanese woman complaining of right-side vulva tumor measuring 3 cm in diameter was referred to our hospital. The mass was located at the right side of the rectovaginal septum and was closely adherent to the rectal serosa and the levator muscle ani. The tumor was completely resected. A pathological examination demonstrated aggressive angiomyxoma of the vulva. Chromosomal analysis of the tumor demonstrated a sole t(5;8)(p15;q22) translocation. This is the first case of an aggressive angiomyxoma of the vulva with a sole t(5;8)(p15;q22) translocation.

Pleomorphic type of malignant fibrous histiocytoma with myxoid stroma of the vulva in a young woman

“…The differential diagnosis of vulvar MFH has already been described above; however, Bartholin's cyst as indicated in this case report, aggressive angiomyxoma as shown in our previous report, 8 and vulvar carcinoma, including verrucous carcinoma, 4,9 are other important differential diagnoses. Chromosomal abnormalities of the tumor have been reported in aggressive angiomyxoma of the vulva; 8 however, chromosomal analysis of our case did not demonstrate any abnormalities. Thus, the difference between aggressive angiomyxoma and MFH of the vulva may be the presence or absence of chromosomal abnormalities in the tumor.…”

Fusion of High Mobility Group AT-hook 2 Gene (HMGA2) With the Chromosome 12 Open Reading Frame 42 Gene (C12orf42) in an Aggressive Angiomyxoma With del(12)(q14q23) as the Sole Cytogenetic Anomaly

“…Numerous thick-walled blood vessels are embedded in an abundant myxoid matrix (9,22). Over the years, cytogenetic information has been reported on only nine such tumors, all of them of vulvovaginal origin (Table I) (2,3,(5)(6)(7)(23)(24)(25)(26)(27).Herein, we report an aggressive angiomyxoma carrying a del(12)(q14q23) as the sole cytogenetic anomaly, resulting in fusion of the high mobility group AT-hook 2 (HMGA2) gene from 12q14 with the chromosome 12 open reading frame 42 (C12orf42) gene from 12q23.…”

“…Numerous thick-walled blood vessels are embedded in an abundant myxoid matrix (9,22). Over the years, cytogenetic information has been reported on only nine such tumors, all of them of vulvovaginal origin (Table I) (2,3,(5)(6)(7)(23)(24)(25)(26)(27).…”

Mutation of an X chromosome in aggressive angiomyxoma: Report of a case and review of the literature

“…Chromosome 12 is reported to be rearranged with chromosome (Tsuji et al, 2007). Another article reported chromosome 15 rearranged with chromosome 25 (Kazmierczak et al, 1995).…”