Mesenchymal tumors and tumor-like lesions of the female genital tract: a selective review with emphasis on recently described entities.

The diverse mesenchymal tumors and tumor-like lesions that occur within the female genital tract include a number of lesions that have only been recently characterized and others about which there is new information. In this group are the aggressive angiomyxoma, angiomyofibroblastoma, and cellular angiofibroma. Criteria for the distinction of these lesions are reviewed, as are the pathologic features of prognostic significance in assessing smooth muscle tumors of the vulva. The diagnostic problems that the epithelioid variant of smooth muscle tumors, both benign and malignant, may pose when they occur in various areas of the genital tract are discussed, particularly with regard to problems encountered in the ovary, a site where the diagnosis often is not considered. Recent information expanding the morphologic spectrum of fibroepithelial polyps of the genital tract is presented, and important non-neoplastic entities, including nodular fasciitis and the postoperative spindle cell nodule, are reviewed. Mesenchymal tumors of the various types seen in the soft tissues may be encountered anywhere in the female genital tract and have been the subject of particular recent interest in the ovary; issues relevant to differential diagnosis are reviewed.     

Cellular angiofibroma of the vulva with DNA ploidy analysis.

Cellular angiofibroma (CAF) is a recently described rare soft tissue neoplasm of the vulva (with only four reported cases) that typically occurs as a well-circumscribed solid rubbery vulvar mass in middle-aged women. The distinct histologic features of bland spindle cells admixed with numerous hyalinized medium to small blood vessels, and a vimentin-positive desmin-negative immunoprofile differentiates this neoplasm from other vulvar tumors such as angiomyofibroblastoma and aggressive angiomyxoma. In this report an additional case of CAF is presented with DNA ploidy analysis and CD99 immunohistochemistry.     

Angiomyofibroblastoma of the vulva during pregnancy

Angiomyofibroblastoma is a rare, benign and recently defined soft tissue tumor. It generally arises from superficial soft tissues, especially from mesenchymal cells in the subepithelial myxoid stromal zone of the vulvovaginal region. The tumor is usually positive for estrogen and progesterone receptor. We report a pregnant woman who developed vulvar angiomyofibroblastoma within 2 months. The tumor was negative for estrogen and progesterone receptor.     

Extragastrointestinal stromal tumors presenting as vulvovaginal/rectovaginal septal masses: a diagnostic pitfall.

Gastrointestinal stromal tumor (GIST) are the most common mesenchymal tumors of the gastrointestinal (GI) tract. Most GISTs arise in the stomach and small bowel, whereas a small number occur elsewhere in the GI tract. Rare cases are identified outside the GI tract and are collectively known as extragastrointestinal stromal tumors (EGISTs). Because of their malignant potential and recent advances in the management of GISTs with imatinib mesylate (Gleevec, Glivec), it is imperative that these tumors are correctly diagnosed. In this study, we reviewed the clinical and pathologic characteristics of 3 cases of EGIST presenting as vulvovaginal/rectovaginal septal masses that were originally misdiagnosed, presumably due to their unusual anatomic locations. The original diagnoses were leiomyoma in one case and leiomyosarcoma in 2 cases. The lesions were localized to the rectovaginal septum () or vagina () and ranged from 4 to 8 cm in diameter. All 3 lesions had a spindle cell morphology that mimicked a smooth muscle tumor. Mitotic figures numbered from 12/50 to 16/50 high power fields (HPFs; median 15). Immunohistochemistry revealed that all 3 cases were strongly positive for KIT (CD117) and CD34 and negative for smooth muscle actin, desmin, pan-cytokeratin, and estrogen receptor. KIT sequence analysis revealed oncogenic mutations in all 3 cases. The first tumor recurred at 2 years and the second tumor recurred at 10 years; the third case is too recent for meaningful follow-up. EGISTs that present as gynecologic masses are rare but may be more common than is currently recognized. Misdiagnosis may lead to inappropriate therapy because conventional chemotherapy and radiotherapy are not effective in the treatment of GISTs, whereas imatinib mesylate (Gleevec, Glivec) has a proven role in managing these tumors. Thus, it is imperative to consider EGISTs in the differential diagnosis of mesenchymal neoplasms in the vulvovaginal/rectovaginal septum.     

Pedunculated aggressive angiomyxoma arising from the vaginal suburethral area: case report and review of literature

BACKGROUND: Aggressive angiomyxoma (AA) is an uncommon, slow growing, locally infiltrative but non-metastasizing, distinctive mesenchymal tumor that predominantly affects the pelvis and perineum of premenopausal women. The mainstay of treatment is local excision with tumor-free margins; however, recurrences are common and related to inadequate primary excision. CASE: A pedunculated 3-cm mass arising from the vaginal suburethral area in a 49-year-old premenopausal woman was resected around the base of its pedicle. Microscopic examination revealed numerous blood vessels of various sizes set in myxoid stroma with spindle shaped fibroblasts. Immunohistochemical staining was strongly diffusely positive for vimentin, desmin, estrogen receptor (ER) and progesterone receptor (PR), weakly focally positive for CD34, and negative for S-100 protein, actin and Ki-67. These findings are compatible with the diagnosis of AA. To date, six months after surgery, the patient is alive and without evidence of recurrence. CONCLUSIONS: AA is often clinically misdiagnosed and it is only the microscopic examination strengthened with immunohistochemical staining that definitely and undeniably contributes to the final diagnosis of AA. Based on this case report and on the previously reported five cases of pedunculated AA arising from the vulvovaginal region, including one tumor arising from the vaginal suburethral area, it seems that pedunculated AAs arising from the vulvovaginal region are at negligible risk of recurrence after local excision.     

Aggressive angiomyxoma of the female pelvis and perineum: a case series

Aggressive angiomyxoma (AA) was first described in 1983, and fewer than 150 cases have been reported in the world medical literature. These tumors are benign, locally infiltrative mesenchymal neoplasms with a predilection for the female pelvis and perineum and a tendency to recur. The size of AAs at presentation varies considerably; however, these tumors often achieve large dimensions before becoming clinically symptomatic. Surgical excision remains the mainstay of treatment, but whether clear, tumor-free surgical margins are necessary is controversial. We report a cohort of six patients treated surgically during the past 20 years for primary or recurrent AA. Treatment, surgical margin status, estrogen and progesterone receptor status, and outcomes are reviewed.     

Post-menopausal Vaginal angiomyofibroblastoma: a case report

Angiomyofibroblastoma (AMF) is a recently described, rare, benign soft tissue vulvovaginal tumour that occurs mainly but not exclusively in the vulval region of pre-menopausal women (Fletcher et al. in Am J Surg Pathl 16:373; 1992). The first case was diagnosed in 1992. We report a case of a post-menopausal woman with a 2-month history of a rapidly growing painless vaginal tumour and thus drawing the attention of gynaecologist as well as general practitioners to the fact that this rare phenomenon can occur outside the vulva.     

Aggressive angiomyxoma of the vagina: a case report and review of the literature

Aggressive angiomyxoma (AA) is a rare mesenchymal tumor of the lower pelvis and genital region, characterized by local infiltration and frequent, even multiple recurrences. In the present paper a case of a small-sized AA of the vagina, in a 55-year-old woman is reported. We describe the histological appearance and the immunohistochemical phenotype of this tumor and discuss its differential diagnosis from other mesenchymal lesions occurring in the pelvic and genital region. Furthermore, we attempt to enlighten the possible mechanisms that govern the pathogenesis and the biological behavior of this "mysterious" neoplasm.     

Aggressive angiomyxoma of the vulva: a case report and review of literature

Background Aggressive angiomyxoma (AA) is a rare vulvovaginal mesenchymal neoplasm with a marked tendency to local recurrence but which usually does not metastasize. Case report We describe a case of AA in the left labium majus pudendi in a 47-year-old woman who underwent incomplete surgical excision. Follow-up 2 years later revealed no recurrence. Conclusion In the past, most authors advocated wide excision even if genitourinary and digestive tract resection were necessary. These days, a less radical surgery is recommended, but the significance of hormonal treatment and/or radiation therapy is not clear yet. Further investigation is necessary.     

Angiomyofibroblastoma of the vulva: a clinicopathological and immunohistochemical analysis of a rare benign mesenchymal tumor

Angiomyofibroblastoma is a rare benign distinctive mesenchymal tumor that occurs in the genital pelviperineal region, commonly the vulva and vagina. We report a case of angiomyofibroblastoma in a 42-year-old woman, presenting as a "cystic mass" located subcutaneously in the right labial area of the vulva. Recognition of this entity is based on specific histological and immunopathological features, and the correct treatment is important because of the aggressive behavior of other related mesenchymal tumors of the vulva and vagina, such as angiomyxoma and cellular angiofibroma.     

Cellular angiofibroma of the vulva

BACKGROUND: The cellular angiofibroma is a benign mesenchymal neoplasm that clinically and histologically must be distinguished from biologically more aggressive lesions. It typically arises in women of late reproductive age and lends itself to cure by complete local excision. A report of an unusual case in a postmenopausal patient is presented. CASE: A 77-year-old woman presented with a painless vulvar mass that slowly enlarged over 3 years. Past history included a hysterectomy and bilateral salpingo-oophorectomy followed by estrogen replacement therapy. Surgical excision of the mass was performed and there is no evidence of recurrence 1 year postoperatively. Histopathologic examination revealed an admixture of hyalinized blood vessels and loose cellular stroma characteristic of a cellular angiofibroma. Immunohistochemical studies revealed stromal cell immunoreactivity for vimentin and CD34 and nonreactivity for desmin, actin, and S100 protein. The nuclei of the stromal cells demonstrated strong reactivity for estrogen and progesterone receptors. CONCLUSION: Mesenchymal lesions of the vulva and perineum include both benign and malignant neoplasms. The cellular angiofibroma is benign; however, other lesions including the aggressive angiomyxoma must be excluded when arriving at that diagnosis. The role of long-term estrogen therapy in the genesis of this tumor awaits further analysis.     

Low-grade fibromyxoid sarcoma presenting clinically as a primary ovarian neoplasm: a case report.

Low-grade fibromyxoid sarcoma is an uncommon, deceptively bland mesenchymal neoplasm that typically occurs in the deep soft tissues of the proximal extremities of young to middle-aged patients. Intra-abdominal low-grade fibromyxoid sarcomas are distinctly rare. We describe the first reported example of this sarcoma involving the ovary. The 42-year-old patient presented with progressing abdominal pain and urinary frequency. Computed tomographic imaging of the abdomen and pelvis showed a 14-cm left-sided pelvic mass. The patient underwent surgical resection and, intraoperatively, a left ovarian mass was identified that extended to both the left hypogastric artery and the left ureter. The resected specimen consisted of a 17-cm tan, fleshy mass containing grossly recognizable nodules of gelatinous, myxoid tissue and a small rim of normal ovary. Microscopic examination of the neoplasm revealed a cytologically bland spindle cell proliferation set in a collagenized stroma that abruptly transitioned to nodules of a myxoid stroma with a well-formed capillary vasculature, features characteristic of low-grade fibromyxoid sarcoma. On the basis of the diagnosis, the patient was clinically staged as a retroperitoneal sarcoma with secondary ovarian involvement. The patient has stable residual disease 11 months postoperatively. This case adds to the literature of intra-abdominal low-grade fibromyxoid sarcoma and expands the list of malignant mesenchymal neoplasms that may involve the ovary.     

Clinicopathological features of unusual vascular lesions of the pelvis, retroperitoneum and colon in females: a report of five cases and review of the literature

Vascular lesions comprise benign and malignant neoplasms as well as non-neoplastic conditions that may be located in various sites but only rarely in the pelvis or the retroperitoneum. In our study we describe five diverse and unusual cases of vascular lesions of the pelvis, retroperitoneum and colon in female patients: a case of retroperitoneal angiosarcoma, pelvic hemangioendothelioma, pelvic angiomyxoma, retroperitoneal lymphangioleiomyomatosis and a case of diffuse cavernous hemangiomatosis of the colon, with emphasis on their clinicopathological features and differential diagnosis. The recent literature on the subject is also briefly reviewed.     

Recurrent giant fibroepithelial stromal polyp of the vulva associated with congenital lymphedema

BACKGROUND: The relatively site-specific mesenchymal lesions of the vulvovaginal region can exhibit superficially overlapping histological features and can be diagnostically challenging. Fibroepithelial stromal polyp is generally an easily recognizable entity, but certain cases cause differential diagnostic problems. CASE: We present a case of a 16-year-old girl with a 10-cm polypoid lesion localized to the left labium. The patient has therapy resistant congenital lymphedema localized to the left arm and leg. The labial lesion was resected and recurred after 12 months and 6 years following the initial treatment. Histologically, it exhibited characteristics of a fibroepithelial stromal polyp with scattered bizarre multinucleated giant cells and ectatic tortuous lymphatic spaces. CONCLUSION: This vulvar lesion represents a unique example of giant fibroepithelial stromal polyp developed in association with Nonne-Milroy-Meiges syndrome.     

The pathology of intermediate trophoblastic tumors and tumor-like lesions.

An intermediate trophoblast is a distinctive trophoblastic cell population from which four trophoblastic lesions are thought to arise: exaggerated placental site (EPS), placental site nodule (PSN), placental site trophoblastic tumor (PSTT), and epithelioid trophoblastic tumor (ETT). EPSs and PSTTs are related to the differentiation of the intermediate trophoblast in the implantation site (implantation site intermediate trophoblast), whereas PSNs and ETTs are related to the intermediate trophoblast of the chorion laeve (chorionic-type intermediate trophoblast). EPSs and PSNs are nonneoplastic lesions, whereas PSTTs and ETTs are neoplasms with a potential for local invasion and metastasis. Microscopically, intermediate trophoblastic lesions can be confused with a variety of trophoblastic and nontrophoblastic tumors, but an appreciation of the morphologic features and immunophenotype allows their diagnosis to be relatively straightforward in most instances. Correct diagnosis is important because each of these lesions may require different therapeutic approaches.     

Aggressive angiomyxoma of the vulva: our experience of a rare case with review of the literature

Aggressive angiomyxoma is a rare, benign but locally aggressive mesenchymal neoplasm, which occurs almost exclusively during the reproductive years of women. A 28-year-old woman developed an aggressive angiomyxoma within the left labium minus of the vulva. The tumor was excised, but the lesion was expanded to the surgical margins. Microscopically, sections showed many walled vessels of various sizes, a loose myxoid and collagenous stroma and stellate and spindle-shaped neoplasmatic cells. Immunohistochemically, the neoplasmatic cells showed strong positivity for vimentin and desmin and moderate positivity for CD34 and estrogen receptors. In conclusion, aggressive angiomyxoma of the vulva should be distinguished from the benign and malignant myxoid tumors or tumor-like conditions of vulva. The pathologic and immunohistochemic characteristics, the difficulties in determining the surgical margins and the treatment of this tumor are discussed. Also, the international literature is reviewed.     

Aggressive angiomyxoma of vulva and vagina: a series of three cases and review of literature

Background  

Aggressive angiomyxoma is a rare locally aggressive mesenchymal tumor of unknown etiology usually affecting the vulva, perianal region, buttocks or pelvis of reproductive age women.     

Multiple primary neoplasms of the ovary and uterus

Multiple primary neoplasms arising in the ovary and uterus were analyzed in 55 patients: 49 synchronous and 6, metachronous. When they occurred synchronously, 74.5% of the ovarian carcinomas and 93.6% of the uterine carcinomas were stage I lesions. The endometrial carcinomas were invariably well differentiated and superficial. It was the stage of the ovarian carcinomas that determined the prognosis of these patients. Ways of their identification as separate neoplasms are discussed. The potential to develop further neoplasms in the gastrointestinal tract and breasts should be borne in mind.     

Aggressive angiomyxoma of the vulva presenting as a huge pedunculated tumor

In 1983, Steeper and Rosai described aggressive angiomyxoma as a rare, slow growing, locally infiltrative, soft tissue tumor that occurs mainly in the genital, perineal and pelvic region, mostly in women. Usually this tumor is nonmetastasing. Recurrence is frequent in about 30%-72% cases. Angiomyxoma demonstrates estrogen and progesterone receptor positivity. Primary surgical resection is the treatment of choice. Hormonal therapy with tamoxifen, raloxifene, and gonadotropin-releasing hormone analogs (GnRH agonists) and vascular embolization are used as the treatment of recurrence and may help to make complete excision feasible in large tumors. We report a case of a 43-year-old woman with huge pedunculated aggressive angiomyxoma of the vulva treated with primary excision.