International Journal of Human and Health Sciences Vol. 03 No. 03 July’19 172 Case report: Aggressive Angiomyxoma: A Rare Perineal Mass Mehmet Sait Ozsoy1, Nuray Colapkulu1, Aman Gapbarov1, Ozgur Ekinci1, Nesrin Gunduz2, Ayse Nur Toksoz3, Orhan Alimoglu1 Abstract Aggressive angiomyxoma (AAM) is a rare tumour that usually occurs in females at reproductive ages and affects pelvic region. We herein report a case of perineal AAM to conribute to the literature about pathological features and clinical outcomes of this tumour. A 36 year old female with no history of chronic diseases presented to our hospital with a nontender perineal mass. The mass was present for two years and it first appeared during pregnancy. She underwent surgery for local resection. The histology of the mass was consistent with AAM and multifocal extention into surgical margins was observed. With immunohistochemical staining the tumor was positive for desmin, CD31, CD34, ER and PR; poorly focal positive for SMA and negative for S-100. Ki67 was less than 1%. Due to surgical margin positivity she had a second operation. After the resection with clear margins, patient showed no signs of reccurence for 7 months. Resections with positive surgical margins were mostly concluded as reccurent with wide time range and reccurence rates, extended surgical resection is gold standard for management of this tumour. Keywords: Perineal tumour, Vulvar mass, Soft Tissue Lesions, Mesenchymal Tumour Correspondence to: Orhan Alimoglu, MD, Prof. Department of General Surgery, Faculty of Medicine, Istanbul Medeniyet University. Istanbul Medeniyet University Goztepe Training and Research Hos- pital, Department of General Surgery, Dr. Erkin Street, Goztepe, 34722, Kadikoy, Istanbul.TURKEY. E-mail: orhanalimoglu@gmail.com” 1. Istanbul Medeniyet University, Goztepe Training and Research Hospital, General Surgery Department, Istanbul 2. Istanbul Medeniyet University, Goztepe Training and Research Hospital, Radiology Department, Istanbul 3. Istanbul Medeniyet University, Goztepe Training and Research Hospital, Pathology Department, Istanbul Introduction Aggressive angiomyxoma (AAM) is a locally infiltrative soft tissuelesion which is discribed as a tumour with uncretain differentiation by World Health Organization in Classification of Bone and Soft Tissue. Female/male incidence ratio is 6:11. Generally, this tumour is found in the pelvic and perineal region of female but there are cases with intrabdominal AAM located in liver and pelvic ureter2,3. Patients with perineal AAM usually present with a nontender, edematous lesion which is found as a reducible mass in physical examination4,5,6. As a rare entity AAM is often misdiagnosed with Bartholin cyst, vulvar lesions, condylama acuminatum, lipoma or pelvic floor hernia. The lesions are usually much more bigger than they seem on inspection and palpation due to their tendency to grow towards the deeper soft tissues7. The main treatment approach is surgical resection with negative margins since there is only a few data about reccurance rates6,7 We herein report a case of perineal AAM to conribute to the literature about pathological features and clinical outcomes of this tumour. Case Report A 36-years old female with no history of chronic diseases presented to our hospital with a nontender perineal mass. The mass was present for two years and it first appeared during pregnancy. In lithotomy position on right gluteal region, 8 cm from the anus; soft, nontender mass with fluctation was palpated. Laboratuary tests were within normal limits. Ultrasound showed a mass measuring 73 x 68 x 48 mm and consistent with abscess contaning air-dense fluid level. With Magnetic resonance imaging (MRI), the mass was isointense on T1-weighted and hyperintense on T2-weighted images, starting from adjacent of right vaginal wall to intergluteal cleft (Figure 1,2). International Journal of Human and Health Sciences Vol. 03 No. 03 July’19 Page : 172-174 DOI: http://dx.doi.org/10.31344/ijhhs.v3i3.98 173 International Journal of Human and Health Sciences Vol. 03 No. 03 July’19 No diffusion restriction on diffusion-weighted imaging was noted. She underwent surgery for local resection. Macroscopic examination showed a solid tumour that was homogeneous, dark grey colored and glistening on the surface (Figure 3). The histology of the mass was consistent with AAM and multifocal extention into surgical margins was observed. With immunohistochemical staning the tumor was positive for desmin, CD31, CD34, ER and PR; poorly focal positive for SMA and negative for S-100. Ki67 was less than %1. Due to surgical margin positivity she had a second operation. After the resection with clear margins, patient showed no signs of reccurence for 7 months. Discussion AAM is first described by Steeper and Rosai in 1983 as an infiltrative and reccurent neoplastic tumour of the blood vessels8. The etiology remains unclear, but significantly increased female dominancy, incidence peak at reproductive ages and reported cases during pregnancy suggest an hormonal involvement to pathogenesis4,9. Most cases locates in pelvic and perineal region but in a review study, Sato et. al have reported a patient which was an AAM, arising from the liver and other cases from the literature located in larynx, oral floor, spraclavicular fossa and lungs were encountered2. Clinical characteristics are similar to perineal lesions, therefore there is no specific findings on physical examination. Most cases are misdiagnosed with other vulvar pathology or levator hernia6. Ultrasonografic examination AAM appear as homogeneous and hypoechoic lesions and on colored Doppler blood flow is usually observed6,10. On MRI, due to increased water content and loose matrix of these lesions, they appear hyperintense on T2-weighted imaging and masses demonstrate a ‘swirled’ pattern3,9,10. Gilardi et al. reported modorate FDG uptake of an AAM with 3.75 SUV max11. The tumor cells are bounded by fibrofatty tissues without a well shaped border and surfaces are myxedematous or gelatinous, and gray reddish- brown. They appear as spindle-shaped cells with lightly stained or eosinophilic cytoplasm6,13. The nuclei are oval-shaped, bland, and lightly stained with a single, small, centrally located International Journal of Human and Health Sciences Vol. 03 No. 03 July’19 174 nucleolus. Mitotic figures are usually absent. By immunohistochemistry, tumour cells show strong expression of vimentin, desmin, ER, and PR. On the other hand, partial or weak expression was observed for SMA, actin,CD34, and S-100, whereas the Ki-67 index was 1% to 3%4,6. Most of the patients were treated surgically but there are studies that invastigated pharmocological approaches. In a case series with 7 patients, Magtibay et al reported a patient that was administered tamoxifen and during treatment tumour progression was observed. Another patient in this series, a 59 year old woman, recieved preoperative radiation and angiographic embolization (after an unsuccessful resection), fallowed by intraoperative radiotherapy and definitive surgery. Tumour margins were clear, yet after 42 months patient had evidence of recurrence on CT12. Im et. al. reported a case treated with both surgery and gonadotropin- relasing hormone agonist. The tumor showed reduction after the treatment but reccured after 10 months14. Conclusion Aggressive angiomyxoma is a rare entity, but with increased number of reported cases diagnostic and pathological features of this tumor was enlightened. Resections with positive surgical margins were mostly concluded with recurrence in varied time intervals. In summary due to high reccurence rates, extended surgical resection is gold standard for management of this tumor. Conflict of Interest No conflict of interest has been disclosed by the authors. Funds This study did not receive any special funding. Authors’ Contributions: Data gathering and idea owner of this study: Mehmet Sait Ozsoy, Nuray Colapkulu, Ozgur Ekinci, Orhan Alimoglu Study design: Mehmet Sait Ozsoy, Nuray Colapkulu, Ozgur Ekinci, Orhan Alimoglu Data gathering: Mehmet Sait Ozsoy, Nuray Colapkulu, Aman Gapbarov, Ozgur Ekinci, Nesrin Gunduz, Ayse Nur Toksoz, Orhan Alimoglu Writing and submitting manuscript: Mehmet Sait Ozsoy, Nuray Colapkulu, Aman Gapbarov Editing and approval of final draft: Orhan Alimoglu References: 1. Fletcher C, Bridge J, Hogendoorn P, et al. World Health Organization Classification of Tumours of Soft Tissue and Bone. 4th ed. IARC Press, Lyon:2013. 2. Sato K, Ohira M, Shimizu M, et al. Aggressive angiomixoma of the liver: a case report and literature review. Surg Case Rep. 2017;3(1):92. 3. Zugail AS, Boawaiden F, Comperat EM, et al. Angiomyxoma of the ureter imitating an upper tract urothelial carcinoma: A case report. Int J Surg Case Rep. 2018;53:39-42. 4. Theofano O, Kim CS, Vites SF, et al. A case report of Aggressive Angiomyxoma in pregnancy: Do hormones play a role? Case Rep Obstet Gynecol. 2016; 2016:6810368. 5. Al-Umairi RS, Kamona A, Al-Busaidi FM. Aggressive angiomyxoma of the pelvis and perineum: A case report and literature review. Oman Med J. 2016;31(16):456-458. 6. Chen H, Zhao H, Xie Y, Jin M. Clinicopathological features and differential diagnosis of aggressive angiomyxoma of the female pelvis: 5 case reports and literature review. Medicine (Baltimore). 2017;96(20):e6820. 7. Sutton B.J., Laudadio J. Aggressive angiomyxoma. Arch Pathol Lab Med. 2012;136(2):217–221. 8. 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(5):463-475. 9. Malukani K, Varma AV, Choudhary D, Dosi S. Aggressive angiomyxoma in pregnancy: A rare and commonly misdiagnosed entity. J Lab Physicians. 2018;10(2):245–247. 10. Benson JC, Gilles S, Sanghvi T, et al. Aggressive angiomyxoma: Case report and review of the literature. Radiol Case Rep. 216;11(4):332-335. 11. Gilardi L, Vadrucci M, Pittaro A, et al. 18F-FDG PET/ CT in aggressive angiomyxoma of the pelvis. Rev Esp Med Nucl Imagen Mol. 2017;36(6):403-405. 12. Magtibay PM, Salmon Z, Keeney GL, Podratz KC. Aggressive angiomyxoma of the female pelvis and perineum: a case series. Int J Gynecol Cancer. 2006;16(1):396-401. 13. Brezezinska BN, Clements AE, Rath KS, Reid GC. A persistent mass: A case of aggressive Angiomyxoma of the vulva. Gynecol Oncol Rep. 2018;9(24):15-17. 14. Im SW, Han SS. Treatment of aggressive angiomyxoma of the female perineum: Combined operative and hormone therapy. J Obstet Gynaecol. 2016;36(6):819-821.