Primary Alveolar Soft Part Sarcoma of Bone: A Rare Occurrence in 8 Patients, Posing a Diagnostic Challenge.

CONTEXT.­: Alveolar soft part sarcoma is a rare soft tissue tumor involving mainly deep soft tissue of the lower extremities. Primary bone involvement is extremely rare. OBJECTIVE.­: To discuss histopathologic and immunohistochemical features of alveolar soft part sarcoma along with challenges in diagnosis and management in the context of primary bone origin. DESIGN.­: Our study constituted 8 patients. Data were collected from the Tata Memorial Hospital, Mumbai, India, during a 10-year period. RESULTS.­: Five patients in our study were female and 3 were male. Their ages ranged from 13 to 56 years. Primary bone involvement was seen in the humerus, tibia, fibula, radius, calcaneus, and rib. Radiologic impression was that of a primary malignant bone tumor in all patients. Conventional histopathologic features were seen in 7 of 8 patients. Positive immunohistochemical expression for TFE3 was demonstrated in 6 patients. All patients had distant metastasis either at presentation or later in the course of the disease. Surgical excision of the primary tumor and adjuvant chemotherapy formed the basis of treatment. Four patients succumbed to disease and 2 were alive with disease. CONCLUSIONS.­: Rare occurrences of primary bone alveolar soft part sarcoma posed a diagnostic challenge in the form of differential diagnoses of metastatic tumors resembling it either morphologically or immunohistochemically. The combined application of clinical and radiologic features along with characteristic histomorphology and immunohistochemistry helps to arrive at a definite diagnosis of alveolar soft part sarcoma. Aggressive behavior of this tumor and its refractoriness to conventional chemotherapy were evident from our series.

Primary Alveolar Soft Part Sarcoma of Cheek: Report of a Case and Review of the Literature.

Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma characterized by an alveolar or organoid arrangement of polygonal tumour cells separated by fibrovascular septa. A specific fusion gene [ASPS critical region 1 (ASPSCR1)-TFE3] was detected in ASPS. Despite being a slow-growing tumour without pain and dysfunction, ASPS is characterized by early metastasis, which leads to poor prognosis. Herein, we report a rare case of primary ASPS of the cheek harbouring ASPSCR1 (exon 7)-TFE3 (exon 5) fusion gene in a 21 year-old woman. This tumour was a well-circumscribed, smooth, round mass that was clinically suspected as a benign tumour. However, histologically, it was observed that the polygonal tumour cells were arranged in solid and alveolar growth patterns. Post-operative examination of the whole body excluded the possibility of metastasis at other sites. Thus, careful immunohistochemical and genetic analyses, as well as whole-body examination, demonstrated that the tumour was a primary ASPS of the cheek.

Stereotactic radiosurgery as a primary treatment for metastatic skull base alveolar soft part sarcoma: a case report.

Alveolar soft part sarcoma (ASPS) is a rare malignancy that typically arises in the trunk or extremities and preferentially metastasises to the brain. Radical resection is generally recommended for cranial metastatic ASPS, but stereotactic radiosurgery (SRS) is a recognised alternative for tumours in surgically challenging locations. Here, we present the case of a 22-year-old female, who underwent SRS and systemic therapy with pazopanib for a metastatic ASPS in the left temporal bone. The tumour was successfully controlled without further intervention over 23 months following SRS, which should be considered for metastatic ASPS when surgical resection is not appropriate.

Alveolar soft part sarcoma metastatic to the breast: a case report.

BACKGROUND: Alveolar soft part sarcoma (ASPS) is an extremely rare neoplasm that tends to occur in the lower limbs of children and adolescents. Metastatic breast tumors constitute 0.5-2.0% of all malignant mammary neoplasms, and cases of ASPS with mammary metastases are very rare. CASE PRESENTATION: Three years ago, an 11-year-old girl presented to the hospital with pain in the right jaw after becoming aware of a mass in the right cheek. After detailed examination, the patient was diagnosed with ASPS with the primary tumor in the right cheek and multiple lung metastases, and chemotherapeutic treatment was initiated. One year later, accumulation of fluorodeoxyglucose (FDG) was observed in the right front of the skull (standardized uptake value (SUV)-max 2.8) and left breast (SUV-max 2.4) using FDG-positron emission tomography (PET) / computed tomography (CT). Ultrasonography revealed the mammary tumor as a hypoechoic, internally heterogeneous mass measuring 22.4 × 16.2 × 21.1 mm with a rich blood supply. Using pathological findings of core-needle biopsy, we diagnosed it as ASPS. Based on the above information, we made a diagnosis of ASPS with left mammary and cranial metastases. Due to chemoresistance, surgical excision was selected as the mode of treatment; resection of the metastatic cranial bone was performed first, and partial mastectomy of the left breast was performed in two stages. Postoperative conditions were good, and we are currently performing regular follow-ups (visual palpation every 3 months and semi-annual mammary gland ultrasonography). CONCLUSIONS: We have reported an extremely rare case of ASPS with mammary metastasis with some reference-based discussion. In our case, disease control was obtained by a combination of drug therapy and surgical treatment.

Alveolar soft part sarcoma with multiple brain and lung metastases in pregnancy: A case report and literature review.

RATIONAL: Alveolar soft part sarcomas (ASPSs) with multiple brain metastases in pregnancy is a rare entity. PATIENT CONCERNS: We report our experience with a 19-year-old pregnant woman who presented with intermittent headaches and vomiting at 38 weeks gestation. DIAGNOSES: The patient was initially diagnosed as brain metastasis according to computed tomography and magnetic resonance imaging (MRI) imaging. INTERVENTIONS: Cesarean section and craniotomy (complete resection of both brain metastatic lesions) was performed sequentially. OUTCOMES: A healthy baby girl was delivered safely and no neonatal malformations were found. Histological analysis confirmed the diagnosis of ASPS. Follow-up MRI performed 10 months after surgery revealed no residual tumor or signs of recurrence. LESSONS: We report a case of ASPS with multiple brain and lung metastases in a pregnant woman. We recommend timely MRI examination for diagnosis and have discussed the approach to the treatment of pregnant women with brain metastasis.

Metastatic Alveolar Soft Part Sarcoma of the Spinal Cord: A Case Report and Review of Literature.

BACKGROUND: Alveolar soft part sarcoma (ASPS) is a rare, malignant soft-tissue neoplasm typically seen in young adults that possesses an unusual tendency to metastasize. Metastases to the intramedullary compartment of the spinal cord, however, are exceptionally rare and have not been described in the literature. CASE DESCRIPTION: We report the case of a 23-year-old woman with disseminated ASPS to the lung and brain who presented with progressive lower-extremity weakness and loss of sensation after radiation and chemotherapy. Magnetic resonance imaging revealed a 1.3-cm avidly enhancing lesion within the central thoracic spinal cord at T3. A T2-T4 laminectomy was undertaken and resulted in a gross total resection. Histopathologically, the mass was composed of organoid nests containing epithelioid cells with eosinophilic, granular cytoplasm separated by sinusoidal spaces. Immunohistochemistry demonstrated convincing positive TFE3 staining. Postoperative imaging confirmed the complete resection of the mass, and her examination was notable for intact sensation and impaired motor function that gradually improved. CONCLUSIONS: A review of the literature found that the reported case represents the first instance of primary or metastatic ASPS in the spinal cord. Metastatic ASPS should thus be included in the differential diagnosis in patients with known disease and neurologic impairment or back pain. Imaging of the spine should then be considered.

Alveolar soft part sarcoma presenting as a breast metastasis in a patient with a history of thyroid cancer: a case report.

Metastases to the breast are uncommon, accounting for 0.5% of breast tumors, and most of them are originated from lymphoma, melanoma and carcinomas of various organs. Alveolar soft part sarcoma (ASPS) is a very rare neoplasm that is usually found in the lower extremities. Lungs are the common site of dissemination and may represent initial manifestation of disease. We report a clinically unsuspected case of ASPS presenting as a breast metastasis in a 25-year-old woman. The patient's medical history was notable for a thyroid cancer treated by surgery and radioiodine ablation 2 years ago. Core needle biopsy of slowly growing breast mass yielded polygonal cells with abundant eosinophilic cytoplasm arranged into solid pattern. Differential diagnosis between apocrine cell carcinoma, paraganglioma, granular cell tumor, neuroendocrine carcinoma, ASPS and metastatic hepatocellular and renal cell carcinoma was rendered by immunohistochemistry. Strong nuclear TFE3 immunoreactivity confirmed a diagnosis of ASPS. Retrospectively a primary tumor was found in the thigh. Most likely, ASPS and thyroid cancer in the patient were growing synchronously and independently.

A retrospective analysis of lung metastasis in 64 patients with alveolar soft part sarcoma.

OBJECTIVES: To analyse the lung metastasis and possible factors influencing lung metastasis in alveolar soft part sarcoma (ASPS) patients. METHODS: The medical records of 64 consecutive ASPS patients were reviewed to analyse their treatments, features of lung metastasis, and possible factors influencing lung metastasis. RESULTS: Thirty-six females and 28 males with a median age of 27 years were included. The primary disease sites were the extremities in 51 patients and other locations in 13 patients. The median primary tumour size was 5 cm. Wide local excision of the primary tumour was performed on 56 patients (87.5 %). Thirteen patients (20.3 %) received postoperative adjuvant radiotherapy, and nine patients (14.1 %) underwent adjuvant chemotherapy. Twelve patients (18.8 %) presented with metastatic lung disease. Twenty-nine patients (45.3 %) developed metastatic lung disease during follow-up. Lung metastasis occurred in 64.1 % of the patients. Lung metastasis was detected at a median interval of 20 months after primary ASPS diagnosis. Being male, >20 years of age, having a primary tumour size ≥ 5 cm, and local recurrence were associated with a greater rate of lung metastasis. Median survival after the diagnosis of lung metastasis was 34 months. The 5-year survival rates were 64.1 and 95.2 % for patients with and without lung metastasis (P < 0.001). Thirty-seven patients with metastatic lung disease received anthracycline- and ifosfamide-based chemotherapy. One patient experienced a partial remission. CONCLUSIONS: ASPS patients have a high prevalence of lung metastasis. Sex, age, primary tumour size, and local recurrence are major factors influencing lung metastasis. Chemotherapy is not efficacious in ASPS patients with lung metastasis.

Brain metastasis of crystal-deficient, CD68-positive alveolar soft part sarcoma: ultrastructural features and differential diagnosis.

We report a case of alveolar soft part sarcoma (ASPS) presenting as an isolated frontal lobe metastasis. The tumor demonstrated little or no immunoreactivity for a broad panel of antibodies yet strong, diffuse immunoreactivity with CD68. On electron microscopy, the characteristic rectangular to rhomboid crystalline inclusions of ASPS were not present. Electron-dense granules resembling peroxisomes were present, sometimes in association with elongated granular structures having a periodic, lattice-like arrangement. Metastatic ASPS was confirmed by demonstration of an ASPSCR1-TFE3 fusion and imaging studies that excluded metastatic Xp11.2 translocation renal cell carcinoma. The primary site was subsequently identified in the lower extremity.

Imaging features of primary and metastatic alveolar soft part sarcoma: single institute experience in 25 patients.

OBJECTIVE: To describe imaging features of primary and metastatic alveolar soft part sarcoma (ASPS). METHODS: In this institutional review board-approved and Health Insurance Portability and Accountability Act-compliant retrospective study, 25 patients (14 males; mean age, 25 years; range, 18-40 years) with pathologically proven ASPS seen at our institute between 1995 and 2013 were included. Imaging of primary tumours in 5 patients and follow-up imaging in 25 patients were reviewed by 2 radiologists in consensus. Clinical information was obtained from electronic medical records. RESULTS: The most common sites for the primary tumour were extremities (17/25, 68%) and torso (6/25, 24%). Primary tumours (n = 5) were well circumscribed, compared with skeletal muscle, were isodense on CT, hyperintense on T1 and T2 weighted images with intense post-contrast enhancement, prominent feeders on CT and flow voids on MRI. Metastases developed in 23/25 (92%) patients, 18 at presentation. The most common sites of metastases were the lungs (100%), lymph nodes (74%), bones (57%) and brain (43%). Visceral and nodal metastases were hypervascular. At the time of reporting the results, 15 patients have died, 6 are alive and 4 were lost to follow-up. Median survival was 74 months for those without brain metastases (n = 8) and 60 months for those with brain metastases (n = 7). Median survival was shorter for patients with metastases at presentation. CONCLUSION: ASPS most commonly involves the lower extremities of young adults, is hypervascular on imaging, often metastasizes at presentation, frequently to lung, nodes, bones and brain, and has an indolent course despite metastases. Brain metastases and high tumour burden (number of metastatic sites) at presentation decreased survival in our study. ADVANCES IN KNOWLEDGE: ASPS has an unusual pattern of metastases to the brain and nodes in addition to lung and bones. It has an indolent course despite metastases.

Gastric metastasis from an alveolar soft part sarcoma in a child: case report and review of the literature.

The authors report a child with alveolar soft part sarcoma who developed significant anemia due to gastrointestinal blood loss. Evaluation revealed the source of bleeding as a gastric metastasis, which was successfully removed. A brief review of gastrointestinal involvement by alveolar soft part sarcoma is discussed.

[Stepwise improvement of visual field after preoperative embolization and tumor resection of cerebral metastasis of alveolar soft part sarcoma].

We report a patient with a brain metastasis from an alveolar soft part sarcoma (ASPS) of the thigh whose visual field defect was resolved in a stepwise manner after preoperative embolization and tumor resection. A 29-year-old man who had undergone surgery to remove an ASPS situated in the thigh developed headaches and homonymous hemianopsia. His visual field defect was evaluated using a Goldmann perimeter. He was found to have a large, well-circumscribed mass in the right occipital lobe. This mass was visible on brain computed tomography and magnetic resonance imaging and was strongly and homogeneously enhanced following contrast administration. Selective angiography revealed a hypervascular mass supplied by branches of the right middle cerebral artery, and preoperative particulate embolization was performed to reduce intraoperative bleeding. A tumor-supplying branch of the middle cerebral artery was superselectively catheterized. For embolization, polyvinyl alcohol (PVA) particles of 90-180 µm in diameter were used. The visual field defect partially improved soon after the preoperative embolization. Surgical resection was performed 3 days after embolization, and the tumor was completely excised by a right occipital craniotomy. Preoperative embolization made the surgical resection easier. Intraoperative bleeding was easily controlled. The pathological diagnosis was ASPS. The intratumoral-embolized vessels were filled with PVA particles. After resection, the patient progressed well with further improvement in visual field function. Rapid improvement of the visual field can be used as an indicator of successful embolization without complications. (Received: July 16, 2013, Accepted: September 5, 2013).

Alveolar soft part sarcoma with breast metastases: a case report.

Alveolar soft part sarcoma (ASPS) is a rare mesenchymal tumor, accounting for <1 % of all soft tissue sarcomas. It appears mainly in young adults, has a female predominance and follows an indolent natural history. Like other sarcomas, it can metastasize to the lungs, liver, bones and the brain, but unusual sites have also been described, including the vagina, the orbit, colonic mucosa and the breast. This paper presents a case report of a 31-year-old patient with metastatic ASPS, who developed two highly vascular breast nodules that following an excisional biopsy, were shown to represent metastases from the patient's known sarcoma.

Alveolar soft part sarcoma of the uterine corpus with pelvic lymph node metastasis: case report and literature review.

Alveolar soft part sarcoma (ASPS) is a rare malignant soft tissue tumor, mainly localized in the extremities, occurring principally in adolescents and young adults. ASPS is uncommon in the female genital tract , and only 37 cases have been reported so far, including 9 cases in the uterine corpus and 17 cases in the uterine cervix. We here reported a case of ASPS occurring in the lower uterine segment . The case showed typical histological and immunohistochemical features. The patient had pelvic and para-aortic lymph node metastasis. To the best of our knowledge, it is the first such case described.

Efficacy of trabectedin in patients with advanced or metastatic alveolar soft-part sarcoma.

BACKGROUND: Alveolar soft-part sarcoma (ASPS) is a rare sarcoma often occurring in young patients that is characterized by the unbalanced translocation der(17)t(X;17) (p11;q25). Although it usually shows an indolent clinical course, the prognosis is usually poor in advanced disease. Since standard chemotherapy regimens used in soft-tissue sarcomas lack efficacy in ASPS, new therapeutic options are needed. We investigated the efficacy of trabectedin, which has demonstrated activity in a variety of cancer types including some of the most prevalent translocation-related sarcomas. PATIENTS AND METHODS: 7 patients with metastatic or advanced ASPS treated with trabectedin in the Sarcoma Center Berlin-Brandenburg and the University Hospital of Greifswald were analyzed for median progression-free survival (mPFS), overall survival (OS), and therapy-related toxicity. RESULTS: In 6 patients with documented disease progression, disease stabilization was reached with trabectedin; only 1 patient experienced progressive disease. The mPFS and OS were 7 months and 21 months, respectively, since the start of trabectedin treatment. Overall, no severe Common Toxicity Criteria (CTC) grade 3 or 4 toxicity was observed. CONCLUSIONS: The poor prognosis of patients with ASPS has so far been due to the unavailability of effective systemic treatments. Trabectedin can be considered the only currently registered drug with clinical activity in this disease.