Primary Alveolar Soft Part Sarcoma Research Articles

A case of primary alveolar soft part sarcoma of the uterine cervix and a review of the literature

Alveolar soft part sarcoma (ASPS) that originates from the uterine cervix is extremely rare, with only thirteen cases reported. The participation of the ASPL-TFE3 chimeric gene, translocation (X; 17) (p11; q25), has been demonstrated in ASPS. Here, we report a case of cervical ASPS, along with a review of the literature. The patient, a 56-year-old woman, was referred for a 70 × 80 mm cervical tumor. She underwent a hysterectomy and bilateral salpingo-oophorectomy, and remained disease free for 66 months without adjuvant therapy. Pathological examination revealed features consistent with ASPS. In addition, the present case demonstrated strong positive nuclear staining for TFE3, and ASPL-TFE3 fusion gene type 1 was detected by RT-PCR. In a review of fourteen cases of this tumor (including the present case), the immunohistochemical expression patterns of myogenic or neuroendocrine markers were somewhat varied among cases. In all cases except for the present case, the patients were under 40 years of age, and the tumor sizes were under 5 cm. The prognosis of ASPS in the cervix was considerably better than that of ASPS in soft tissues. Complete resection with adequate margins is thought to be important, although the appropriate surgical method, including lymph node dissection, is uncertain. The role of chemotherapy or radiotherapy as adjuvant therapy has not been defined. Cervical ASPS is extremely rare, making case series the most viable option for understanding their natural history and for developing a treatment strategy, including an optimal surgical procedure and adjuvant therapy.

Alveolar soft part sarcoma of the thyroid gland in a child

Background : Soft tissue sarcomas, including rhabdomyosarcomas (RMS) and non-RMS (NRSTS), are rare in children with less than 1000 new cases diagnosed yearly in the United States. RMS is the most common soft tissue sarcoma in young children and NRSTS is more common in adolescents and young adults. Alveolar soft part sarcoma (ASPS) is a form of NRSTS. ASPS is an extremely rare malignancy, comprising less than 0.1% of head and neck sarcomas. In children, ASPS has a tendency for the head and neck region (27%), with most cases involving the orbit and the tongue. Methods : A 2-year-old boy presented with respiratory distress. Imaging revealed a 5.5 cm × 4.0 cm × 2.5 cm mass arising from the thyroid gland compressing the trachea and bilateral pulmonary metastases. Results : The patient underwent tracheostomy, thyroid lobectomy, and excision of paralaryngeal/paratracheal tissue. Pathology revealed positive margins and extensive lymphovascular permeation. Discussion : Cases of ASPS of the larynx, buccal space, paravertebral space, orbit, and tongue have been described. This is the first case of primary ASPS of the thyroid gland. Surgery is the mainstay of treatment for NRSTS, and radiation and chemotherapy are reserved for the subset of NRSTS that are high grade or unresectable. Median survival time of patients with ASPS is 3 years if metastatic disease is present at the time of diagnosis and 11 years if there is no metastatic disease at presentation. Our patient survived 2 years after diagnosis. Conclusion : Even though very rare, ASPS should be considered in the differential diagnosis of thyroid tumors.

Meningeal alveolar soft part sarcoma confirmed by characteristic ASPCR1‐TFE3 fusion

Sarcoma metastatic to the brain is uncommon and rarely occurs as the initial manifestation of tumor. Alveolar soft part sarcoma (ASPS) is a rare but well-studied subtype of sarcoma. A 39-year-old man presented with seizures due to a left temporal meningeal-enhancing lesion with striking brain edema on MRI. The patient underwent neurosurgical resection for suspected meningioma. Histology showed large tumor cells clustering and forming small nests, in places with pseudoalveolar pattern. Diastase-resistant periodic acid-Schiff revealed very rare granular and rod-like cytoplasmic inclusions. Immunohistochemistry showed convincing positivity only with vimentin and smooth muscle actin. The histological features were strongly suggestive of ASPS. At the molecular level RT-PCR and sequencing analysis demonstrated ASPCR1-TFE3 fusion confirming the histological diagnosis of ASPS. There was no evidence of primary extracranial tumor by physical examination and on chest and abdominal CT scan 11 months after presentation. ASPS typically arise from the soft tissues of the extremities and develop multiple metastatic deposits usually with a long clinical course. This case may represent primary meningeal ASPS although metastatic deposit from an undiscovered primary site cannot be entirely excluded.

Primary alveolar soft part sarcoma of vertebra: a case report and literature review

Alveolar soft part sarcoma (ASPS) is a rare malignant soft tissue tumor, which rarely occurs in bone. We present a case of ASPS in a 23-year-old man with a 2-month history of back pain. Computed tomography scanning and magnetic resonance images demonstrated a destructive process in the 12th thoracic vertebra associated with a unilateral soft tissue mass. The tumor showed evidence of hypervascularity on MRI; it obviously was enhanced on T1-weighted images after injection of Gd-GDPA, and signal voids were shown on all pulse sequences which may help to differentiate ASPS from other tumors of the vertebra. We believe that this is the first case of ASPS arising in a vertebra.

Primary alveolar soft-part sarcoma of the iliac bone: A case report

Alveolar soft-part sarcoma is a rare malignant soft tissue tumor that primarily affects young adults. We present a case of alveolar soft-part sarcoma arising in the right iliac bone. The importance of recognizing the distinctive feature of associated intra- and peri-tumoral vascularity on imaging modalities is highlighted.

Primary alveolar soft part sarcoma of fibula demonstrating ASPL–TFE3 fusion: a case report and review of the literature

Alveolar soft part sarcoma is a rare soft tissue tumor typically affecting young adults. These tumors are most often seen in the deep soft tissues of the extremities and patients generally present with advanced disease. Primary bone involvement is extremely rare and has only been reported in seven cases. This is the first case of alveolar soft part sarcoma in bone documenting the ASPL-TFE3 gene product. Herein, we report a rare presentation of alveolar soft part sarcoma presenting as a primary bone neoplasm involving the proximal fibula in a 41-year-old woman.

Calvarial Metastasis of a Renal Cell Carcinoma, Mimicking a Primary Alveolar Soft Part Sarcoma, in a Young Girl—a Rare Case Report

Renal cell carcinoma (RCC) is characterized by an unpredictable clinical behavior. It has a tendency for early metastasis, which, at times is the initial presentation and therein poses a diagnostic challenge. We present a rare case of a disseminated RCC in a 15-year-old girl, who primarily presented with an occipital soft tissue mass. Computed tomography (CT) of the head revealed a soft tissue mass in the scalp, eroding the occipital bone and extending intracranially. Biopsy examination showed overlapping features of an alveolar soft part sarcoma (ASPS) and a RCC. Immunohistochemistry (IHC) showed diffuse positivity for CD10 and focal positivity for vimentin. Cytokeratin (CK) and epithelial membrane antigen (EMA) were negative. The patient was recommended a clinical 'work-up' to rule out a possible primary in the kidneys. Her CT scan abdomen unraveled a large, lobulated, heterogeneous cystic mass, involving the middle and upper pole of the left kidney. Diagnosis of a metastatic RCC was ascertained. The present case represents a rare manifestation of a RCC metastasizing at an unusual location i.e. calvarium in the youngest patient known, so far and masquerading a primary ASPS. It also highlights the value of clinico-patho-radiological correlation, including CD10 as a useful IHC marker in diagnosing a RCC in young patients, especially when histopathological features overlap with ASPS.

Primary Cardiac Alveolar Soft Part Sarcoma. A Report of the First Observed Case with Molecular Diagnostics Corroboration

A case of primary alveolar soft part sarcoma (ASPS) of the heart is reported in an 11-year-old female as 1 of 16 cases of ASPS presenting in the first 2 decades of life in our institutional 17-year review period. The classic alveolar or organoid pattern was inconspicuous as compared to a more diffuse or formless pattern consisting of a population of uniform round cells with abundant eosinophilic cytoplasm, but in addition there was a second, minor population of gigantiform tumor cells with a variety of unusual shapes. Scattered tumor cells contained dense eosinophilic condensations in the cytoplasm. Other unusual features for ASPS in our case included a lymphohistocytic reaction and zonal necrosis. Immunohistochemistry revealed nuclear reactivity for TFE3, and the ASPL-TFE3 fusion transcript was identified by reverse-transcriptase polymerase chain reaction. The only other examples of ASPS involving the heart were 3 cases in the literature of metastatic disease from tumors arising in the soft tissues. This initial case of primary cardiac ASPS joins the list of other types of sarcomas in children that have been reported as primary neoplasms of the heart.

Primary Alveolar Soft-Part Sarcoma of the Liver: Anomalous Presentation of a Rare Disease

Alveolar soft-part sarcoma is a highly vascular soft-tissue tumor that is uniformly malignant. It comprises less than 1 per cent of all soft-tissue sarcomas. Patients with alveolar soft-part sarcoma most frequently are aged 15 to 35 years, and the soft tissues of the lower extremities typically are affected. In the pediatric population, it most frequently occurs in the head and neck and particularly affects the tongue and orbit. Alveolar soft-part sarcoma has been described as a primary lesion in the trunk, upper extremities, and retroperitoneum; more novel locations include the mediastinum, female genital tract, stomach, bone, and larynx. Numerous case reports describe alveolar soft-part sarcoma in diverse anatomic locations, but this report is, to our knowledge, the first documentation of primary alveolar soft-part sarcoma of the liver. We describe a 47-year-old woman with such a manifestation. Despite surgical resection and numerous chemotherapeutic regimens, this patient had widespread metastasis and died approximately 2 years after the diagnosis was established.

Sarcoma

Sarcomas comprise a heterogeneous group of mesenchymal neoplasms. They can be grouped into 2 general categories, soft tissue sarcoma and primary bone sarcoma, which have different staging and treatment approaches. This review includes a discussion of both soft tissue sarcomas (malignant fibrous histiocytoma, liposarcoma, leiomyosarcoma, synovial sarcoma, dermatofibrosarcoma protuberans, angiosarcoma, Kaposi sarcoma, gastrointestinal stromal tumor, aggressive fibromatosis or desmoid tumor, rhabdomyosarcoma, and primary alveolar soft-part sarcoma) and primary bone sarcomas (osteosarcoma, Ewing sarcoma, giant cell tumor, and chondrosarcoma). The 3 most important prognostic variables are grade, size, and location of the primary tumor. The approach to a patient with a sarcoma begins with a biopsy that obtains adequate tissue for diagnosis without interfering with subsequent optimal definitive surgery. Subsequent treatment depends on the specific type of sarcoma. Because sarcomas are relatively uncommon yet comprise a wide variety of different entities, evaluation by oncology teams who have expertise in the field is recommended. Treatment and follow-up guidelines have been published by the National Comprehensive Cancer Network (www.nccn.org).

Primary Alveolar Soft Part Sarcoma of the Lung

Alveolar soft part sarcoma (ASPS) is a rare epithelial-like soft tissue sarcoma. The two main sites of its occurrence are the lower extremities in adults and the head and neck in children. Primary pulmonary involvement of this sarcoma, without evidence of soft tissue tumor elsewhere, is very exceptional. We present a case of primary ASPS of the lung in a 42-yr-old woman. A computed tomographic scan of the thorax demonstrated a well-circumscribed, solid tumor located in the right upper lobe. The mass was resected by right upper lobectomy. After 5 months, three metastatic lesions, involving lumbar vertebrae and occipital scalp, were found. Histologically, the tumor consisted of alveolar nests of large polygonal tumor cells, the cytoplasm of which frequently revealed periodic acid-Schiff-positive, diastase-resistant intracytoplasmic rod-like structures. On immunohistochemical staining, the tumor cells were positive only for vimentin and alpha-smooth muscle actin. Ultrastuctural study using electron microscopy revealed characteristic electron-dense, rhomboid intracytoplasmic crystals.

Primary Cardiac Alveolar Soft Part Sarcoma. A Report of the First Observed Case with Molecular Diagnostics Corroboration

Primary Cardiac Alveolar Soft Part Sarcoma. A Report of the First Observed Case with Molecular Diagnostics Corroboration

Primary Alveolar Soft Part Sarcoma (ASPS) of the Breast

Alveolar soft part sarcoma (ASPS) is a rare neoplasm that most commonly presents in the lower extremities. Although ASPS has distinctive histologic features, it may cause diagnostic problems when it arises in unusual locations. To our knowledge, only 1 case of ASPS arising within the breast has previously been reported. Here, we report a second case of primary mammary ASPS. The patient was a 44-year-old woman who presented with a breast mass. Needle biopsy was performed, yielding a polygonal cell lesion with abundant, predominantly xanthomatous cytoplasm. The cells labeled strongly for the histiocytic marker CD68, suggesting a benign macrophage-rich lesion. However, the unusual nature of the lesion as well as the prominence of nucleoli prompted suggestion for an excision. The excision more clearly revealed the lesion's alveolar architecture and demonstrated cells with more eosinophilic cytoplasm, along with the xanthomatous cells. The diagnosis of ASPS was confirmed by electron microscopy, which revealed characteristic membrane-bound rhomboidal crystals, as well as by nuclear labeling for TFE3 protein by immunohistochemistry. With this report, we confirm the utility of a novel immunohistochmical technique for the identification of an ASPS presenting in an unusual locale.

Alveolar soft part sarcoma: report of a case occurring in the sinonasal region

A primary alveolar soft part sarcoma arising in the nasal-paranasal sinuses region is quite rare. In this report, a 14-year-old boy with typical features of alveolar soft part sarcoma of the nasal and paranasal sinuses is presented. Treatment was surgical excision of the mass combined with radiotherapy. There has been no recurrence or metastasis as of 2 years after treatment.

Alveolar soft part sarcoma of the tongue: Report of a case

The clinicopathologic, immunohistological, and ultrastructural features of an alveolar soft part sarcoma of the tongue occurring in a 2-year-old girl are described. A primary alveolar soft part sarcoma arising in the dorsum part of the tongue is quite rare. There has been no recurrence or metastasis as of 7 years postoperatively.

Primary Alveolar Soft Part Sarcoma of the Stomach: A Case Report and Review

Alveolar soft part sarcoma (ASPS) is a rare tumor typically located in skeletal muscles and muscolofascial planes. Isolated cases of ASPS have been described as arising in the viscera. We report a mesenchymal tumor of the stomach in a 54-year-old Italian woman without evidence of primary neoplasm elsewhere ten years following the initial diagnosis. The histologic, histochemical, immunohistochemical, and electron microscopic findings were all consistent with the diagnosis of ASPS and allowed differentiating it from morphologically similar and more common tumors, such as metastatic renal cell carcinoma and paraganglioma. The patient is alive and well ten years following the initial presentation.

Primary alveolar soft part sarcoma of bone.

Alveolar soft part sarcoma is a distinct, rare soft tissue tumour occurring primarily within the skeletal muscles or musculofascial planes in young adults. Primary involvement of bone is extremely rare. We report on six patients with alveolar soft part sarcoma occurring primarily in bone. Thorough clinical and radiographic examinations were done to rule out any other primary site. The patients were four women and two men aged 17-35 years (mean, 24.5 years). The primary site of the tumour was the femur in three patients, the ilium in one and the fibula in two. In one of the patients with fibular involvement, the tibia was also involved by direct extension. Of the long bone lesions, three were centred in the metaphysis and one in the diaphysis. Radiographically, all of the lesions demonstrated an osteolytic pattern of bone destruction with ill-defined margins and a wide zone of transition between the lesion and adjacent normal bone. Microscopically, all tumours showed the typical histological pattern of alveolar soft part sarcoma. Diastase-resistant, periodic acid-Schiff-positive crystalline structures were identified within the cytoplasm and confirmed ultrastructurally. Immunohistochemically, a keratin stain was negative in all cases; there was positive staining for MyoD1 in the cytoplasm but not the nuclei. Distant metastasis developed in four patients; one died. Alveolar soft part sarcoma arising in bone is extraordinarily rare but should be considered in the differential diagnosis of metastatic hypernephroma in a young patient.

Primary alveolar soft part sarcoma of the tongue of an elderly man: A case report and review of the literature

A 64-year-old black man had a primary alveolar soft part sarcoma of the tongue. It is unusual for this rare tumor to develop in this site in the elderly age group. The patient survived nearly 3 years with disease. When the patient expired, a complete autopsy was performed. The biopsy material of the primary tumor showed characteristic light microscopic appearance, intracellular periodic acid-Schiff positive inclusions after diastase reaction, and electron microscopic presence of crystals. Immunohistochemistry for neuron-specific enolase was positive. The autopsy confirmed widespread visceral and lymphatic metastases. The atypical features of this case, including the site of the primary lesion, age of the patient at diagnosis, immunohistochemistry of the tumor, and natural history of this neoplasm, suggest that alveolar soft part sarcoma may behave differently when arising in an extraskeletal site, and could possibly have a different histogenesis from the typical alveolar soft part sarcoma found in a younger population.

Imaging of alveolar soft part sarcoma

The imaging investigations in six patients with alveolar soft part sarcoma (ASPS) are reviewed. Five patients presented with a pelvic or lower limb mass and one with haemoptysis from pulmonary metastases. Magnetic resonance imaging (MRI), CT, Doppler US and angiography studies demonstrated the highly vascular nature of this rare tumour and the frequent occurrence of pulmonary and intracranial metastases. Previously unreported Doppler US and MR evidence of multiple enlarged vessels and high blood flow within primary and secondary ASPS tumours is emphasized. Imaging is of considerable importance both for pre-operative localization and long term surveillance of this slow growing but invariably disseminating tumour.

Primary Alveolar Soft-Part Sarcoma of Stomach

A case of primary gastric alveolar soft-part sarcoma is presented. The tumor was found in the gastric remnant of a 67-year-old male who had undergone partial gastrectomy due to hemorrhagic gastric ulcer 13 years before. It was located mostly in the submucosa arising from the muscularis propria. The large eosinophilic cells showed the characteristic alveolar compartmentalization and contained intracytoplasmic periodic acid-Schiff-positive granules and typical crystals. Numerous electron-opaque secretory granules in the tumor cell cytoplasm, in addition to crystals of 9 nm periodicity, were confirmed at the ultrastructural levels. Immunostaining failed to detect muscle-related antigens. In contrast, methionine-enkephalin and neuropeptide Y appeared positive in the tumor cells. Interstitial spindle cells showed an occasional positivity to S-100. This is the first case of such a tumor occurring in the gastrointestinal tract, and the findings suggest that gastric alveolar soft-part sarcomas may have a different origin from those arising in the skeleton.