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Aggressive angiomyxoma (AA) is rare, soft, myxoid, mesenchymal neoplasm arising in the Pelvis ... myxolipoma, myxoid neurofibroma, and myxoid leiomyoma.
ISSN 0972-4958

Journal of Medical Society • Volume 29 • Issue 1 • January-April 2016 • Pages 1-??

Journal of Medical Society www.jmedsoc.org

Volume 30 / Issue 1 / Year 2016

A Publication of Regional Institute of Medical Sciences, Imphal

Case Report Giant aggressive angiomyxoma of the vulva Harsh Kumar, Banyameen Iqbal, Bharat Bhushan Dogra1, Shrish Chandanwale Departments of Pathology and 1Plastic Surgery, Dr. D.Y. Patil Medical College, Hospital and Research Centre, Pimpri, Pune, Maharashtra, India

Abstract Aggressive angiomyxoma (AA) is rare, soft, myxoid, mesenchymal neoplasm arising in the Pelvis and Perineal regions, which is locally aggressive. We are reporting a case of a 17-year-old female who presented with a well-circumscribed pedunculated polypoidal mass in the right labium majora diagnosed to be AA. Surgical excision was done, and histopathological examination confirmed it to be AA. Key Words: Aggressive angiomyxoma, Soft-tissue tumor, Vulval tumors

INTRODUCTION Aggressive angiomyxoma (AA) is a soft, myxoid, mesenchymal neoplasm arising in the pelvis and perineal regions, which is locally aggressive and rare. Steeper and Rosai, in 1983, first described its histologic characteristics and its tendency to recur and infiltrate locally.[1] It always involves the vulvovaginal, perineal, and pelvic regions of reproductive age group women. Until date, there have been only 250 cases reported in literature.[2] The term “aggressive” denotes its ability for local aggression and recurrence after excision. AA has a low tendency to metastasize. Until now, there has been no final conclusion on its pathogenesis, but a fibroblastic/myofibroblastic origin has been proposed.[1]

CASE REPORT A 17-year-old female presented in the Department of Gynecology with a mass on the right labium majora which is slowly growing for the last 4 months. Local examination was done which showed a well-circumscribed pedunculated mass measuring about 7.5 × 4.5 cm. On examination, it was nontender, soft and spongy in consistency. It was skin covered, outer surface was rough, cut surface had a smooth, gelatinous, and pale appearance [Figure 1]. Vagina, cervix, and uterus were normal and

healthy. The tumor was surgically removed and sent for histopathology examination. Histopathology examination shows spindle and stellate mesenchymal cells with no atypia, embedded in a loose myxoid stroma. Small to medium sized blood vessels were noted in the stroma with extravasated red blood cells in the stroma. No evidence of any nerve hypertrophy was seen. Focal collections of the perivascular mononuclear cell infiltrate are seen in Figure 2. Immunohistochemistry studies revealed S-100 negative [Figure 3], CD34 positive [Figure 4], and smooth muscle actin (SMA)-focal positivity in the vessel wall. It was diagnosed to be angiomyxoma of the vulva.

DISCUSSION AA is a distinct and uncommon, mesenchymal tumor with a predilection for pelvis and perineal regions, especially in females and less frequently in males. Steeper and Rosai,[1] in 1983, were the first to report nine cases of this pelvic neoplasm and described them as AA. In 2003, this term was re-classified by the World Health Organization as deep angiomyxoma.[3] “The pathogenesis of AA is not clear. Some studies have demonstrated a definite translocation at the level of chromosome 12 with a consequent aberrant expression of the high mobility group protein isoform I-C involved in DNA transcription.”[4] AA is believed to be a This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

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For reprints contact: [email protected] DOI: 10.4103/0972-4958.175855

How to cite this article: Kumar H, Iqbal B, Dogra BB, Chandanwale S. Giant aggressive angiomyxoma of the vulva. J Med Soc 2016;30:58-60.

Address for correspondence: Dr. Banyameen Iqbal, Department of Pathology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pimpri, Pune, Maharashtra, India. E-mail: [email protected]

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Kumar, et al.: Aggressive angiomyxoma

Figure 1: Skin covered bilateral soft tissue tumor of vulva

Figure 3: Photomicrograph showing immunohistochemical stain S-100 negativity

hormonally responsive tumor and is positive for estrogen receptor and/or progesterone receptor. It is thought to arise from mesenchymal cells of the pelvic region and/or perineal region, especially in females. A few studies also suggest AA to arise from multipotent perivascular progenitor cells as it often shows variable myofibroblastic and fibroblastic features.[5] AA also shows positivity for CD34 and SMA and negativity for S-100 as in this case. AA is a locally invasive neoplasm, and it needs to be differentiated from benign lesions which are known to have a low risk of recurrence and also from fully malignant myxoid tumors. The differential diagnosis “ranges from benign tumors such as myxolipoma, myxoid neurofibroma, and myxoid leiomyoma to myxofibrosarcoma, myxoid variant of liposarcoma, leiomyosarcoma, malignant fibrous histiocytoma, and botryoid rhabdomyosarcoma.”[6] This neoplasm may also be clinically misdiagnosed as vaginal polyps, myxoma, lipoma, vulvar mass, vulvar abscess, Bartholin’s cyst, Gartner’s duct cyst, vaginal cyst, vaginal prolapse, pelvic floor hernia, fibromatosis, and other benign and malignant soft tissue tumors of the pelvis and perineum.[7] Surgical excision Journal of Medical Society / Jan-Apr 2016 / Vol 30 | Issue 1

Figure 2: Photomicrograph showing high power view of the stroma with spindle and stellate mesenchymal cells without atypia (H and E, ×40)

Figure 4: Photomicrograph showing immunohistochemical stain CD34 positivity

is the preferred treatment. However, this tumor carries a high rate of recurrence after complete excision due to local infiltration. There are reports of around 50-70% of patients having recurrence after surgical resection.[8] Radiotherapy and chemotherapy are not useful because of low mitotic activity in these tumors. Various methods have been tried to lower the chances of recurrences and are even successful. Certain hormonal therapies with tamoxifen, raloxifene, or gonadotropin-releasing hormone analogs are useful as they have been seen to reduce tumor size. Complete excision of large tumors is now possible because of hormonal therapy, which even controls the recurrence in these aggressive tumors.[9]

CONCLUSION AA is a very uncommon, aggressive, mesenchymal tumor with a preference for perineal areas in females and less commonly in males. Treatment of choice is excision, but the tumor carries a high risk of recurrence after complete 59

Kumar, et al.: Aggressive angiomyxoma

excision. Various hormonal therapies have been tried to reduce the chances of recurrences after excision and some have even been useful.

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Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship Nil.

Conflicts of interest

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6. 7.

There are no conflicts of interest.

REFERENCES

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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. Haldar K, Martinek IE, Kehoe S. Aggressive angiomyxoma: A case series and literature review. Eur J Surg Oncol 2009;10:10-6. Tavassoli FA, Devilee P. Pathology and Genetics: Tumours of the Breast and Female Genital Organs. World Health Organization Classification of Tumours. Lyon: IARC Press; 2003. p. 329. Nucci MR, Weremowicz S, Neskey DM, Sornberger K, Tallini G, Morton CC, et al. Chromosomal translocation t(8;12) induces aberrant HMGIC expression in aggressive angiomyxoma of the vulva. Genes Chromosomes Cancer 2001;32:172-6. Alameda F, Munné A, Baró T, Iglesias M, Condom E, Lloreta-Trull J, et al. Vulvar angiomyxoma, aggressive angiomyxoma, and angiomyofibroblastoma: An immunohistochemical and ultrastructural study. Ultrastruct Pathol 2006;30:193-205. Behranwala KA, Thomas JM. ‘Aggressive’ angiomyxoma: A distinct clinical entity. Eur J Surg Oncol 2003;29:559-63. Güngör T, Zengeroglu S, Kaleli A, Kuzey GM. Aggressive angiomyxoma of the vulva and vagina. A common problem: Misdiagnosis. Eur J Obstet Gynecol Reprod Biol 2004;112:114-6. Amin A, El Badawy S, Bull A. Aggressive angiomyxoma of the vulva. J Obstet Gynaecol 2013;33:325-6. McCluggage WG, Jamieson T, Dobbs SP, Grey A. Aggressive angiomyxoma of the vulva: Dramatic response to gonadotropin-releasing hormone agonist therapy. Gynecol Oncol 2006;100:623-5.

Journal of Medical Society / Jan-Apr 2016 / Vol 30 | Issue 1