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Background: Alveolar soft-part sarcoma (ASPS) is a rare soft tissue sarcoma subtype, occurring mainly in young people, with poor prognosis., Materials and Methods: We conducted a retrospective analysis of localized or metastatic ASPS patients admitted to the First Affiliated Hospital of Zhengzhou University (China) from 2012 to 2020, focusing on treatment and prognosis., Results: The median age at diagnosis was 24 years (range: 1.4-78 years). Women ( n  = 29, 58%), especially those aged <30 years, dominated this series. The most common metastasis site was lung. Thirty-one (62%) patients developed lung metastasis (localized: n  = 9 [18%]; metastatic: n  = 22 [44%]). Only a tumor maximum diameter ≥ 5 cm was associated with a high lung metastasis rate ( p  = 0.039). The mean follow-up time was 37.5 months (1-108 months), and the 5-year overall survival (OS) rate was 84.7%. Univariate analysis indicated that distant metastasis observed at the initial visit and incomplete resection of the primary tumor were associated with poor OS. For localized cases, neither surgery plus radiotherapy ( p  = 0.486) nor surgery plus chemotherapy ( p  = 0.536) improved progression-free survival compared to surgery alone. Among the metastatic cases, the disease control rate (PR + SD) was higher for targeted therapy (60%) and combined immunosuppressive therapy (100%) than for conventional cytotoxic chemotherapy (26%)., Conclusions: Postoperative adjuvant radiotherapy and chemotherapy do not provide good local control for patients with localized disease. Although there is no standard treatment strategy for patients with advanced or metastatic disease, they can benefit from targeted therapy and/or immunosuppressive therapy.

Alveolar soft-part sarcoma is a rare type of soft tissue malignant tumor. Although the tumor can occur in many parts of the body, primary alveolar soft-part sarcoma of the lung is extremely rare. According to previous literature, only 3 cases of primary alveolar soft-part sarcoma of the lung were reported, and no comprehensive analysis was conducted on these cases. Here, we describe another case of alveolar soft-part sarcoma in the lung, where the negative results of immunohistochemical staining cause extreme difficulty in distinguishing this lesion from other tumors. A 30-year-old Chinese male presented with chest pain and dyspnea. Computed tomography revealed a pulmonary mass, and biopsy results showed vacuolar tumor cells with abundant eosinophilic cytoplasm. A number of immunohistochemical markers were negative, but the tumor cells were positive for TFE3 and ASPSCR1::TFE3 fusion gene. No other tumor masses were found in the patient after whole-body scanning. The final diagnosis was primary alveolar soft-part sarcoma of the lung. Pathologists should consider the possibility of alveolar soft-part sarcoma in lung tumors with typical "organ like" or "acinar like" cell nests, where the tumor cells are large, vacuolated, and the nucleolus is obvious. After excluding metastasis from other sites, TFE3 immunohistochemical staining and ASPSCR1::TFE3 fusion gene detection are recommended for the diagnosis of primary alveolar soft-part sarcoma.

Rationale: Alveolar soft part sarcoma (ASPS) is a very rare soft tissue sarcoma. ASPS often occurs in deep soft tissues of the lower extremities, and develops into metastatic diseases. Chemotherapy is considered to be ineffective in patients with ASPS, which constitutes a very important clinical challenge. The strategy for ASPS treatment still requires clarification in order to improve survival outcome. Patients concerns: A 19-year-old female patient presented with a 5-year history of painless lump in the left knee and 4-day cough. Her previous medical history was unremarkable. Menstruation and family history were also normal in this patient, whose physical examination and laboratory test results showed no abnormalities., Diagnosis: ASPS was confirmed by clinical manifestations, radiological data and pathological diagnosis of the biopsy of left knee., Interventions and Outcomes: This patient received circulating tumor DNA detection and only a mutation of the SMARCA4 gene was detected. The patient received sunitinib treatment (37.5 mg once daily) for 15 months and showed partial regression of lung metastatic lesions and stabilization of brain metastases. She achieved 15 months of progression free survival., Conclusions: Sunitinib is effective for the treatment of advanced ASPS with lung and brain metastases. The current patient had long-term progression free survival under sunitinib administration.

Alveolar soft part sarcoma (ASPS) is a rare, malignant mesenchymal tumor of distinctive clinical, morphologic, ultrastructural, and cytogenetical characteristics. It typically arises in the extremities of adolescents and young adults, but has also been documented in a number of unusual sites, thus causing diagnostic confusions both clinically and morphologically. The molecular signature of ASPS is a specific der(17)t(X;17)(p11.2;q25) translocation, which results in the fusion of TFE3 transcription factor gene at Xp11.2 with ASPL at 17q25. Recent studies have shown that the ASPL-TFE3 fusion transcript can be identified by reverse-transcriptase polymerase chain reaction analysis and TFE3 gene rearragement can be detected using a dual-color, break apart fluorescence in situ hybridization assay in paraffin-embedded tissue, and the resultant fusion protein can be detected immunohistochemically with antibody directed to the carboxy terminal portion of TFE3. Herein, we report a unique case of ASPS presenting as an asymptomatic mass in the lung of a 48 year-old woman without evidence of a primary soft tissue tumor elsewhere at the time of initial diagnosis. To the best of our knowledge, this is the third report of such cases appearing in the English language literature to date. We emphasize the differential diagnoses engendered by ASPS including a series of tumors involving the lung that have nested and alveolar growth patterns, and both clear and eosinophilic cytoplasm, and demonstrate the utility of molecular genetic analysis for TFE3 rearrangement and immunohistochemistry for TFE3 antigen expression for arriving at accurate diagnosis.

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.

Lung metastasis is a common finding, either before, with or after discovery of the primary tumor. Histological examination of a lung formation of unknown origin can lead to diagnosis of a primary tumor. We report the case of a 28-year old woman who presented an apparently primary tumor in the lower left pulmonary lobe. Pathology reported soft tissue alveolar sarcoma. The first manifestation of this rare soft tissue tumor can be a lung or brain tumor. Imaging evidenced the primary tumor in the left calf. Histology confirmed the diagnosis and the metastatic nature of the lung tumor.

We report a case of alveolar soft part sarcoma (ASPS) of the thigh with lung metastases in a 22-year-old woman. The findings of digital subtraction angiography (DSA) and MRI contributed to the diagnosis of ASPS. Especially dynamic contrast-enhanced MRI was useful for evaluating the effect of chemoembolotherapy.

Aims: Primary alveolar soft part sarcomas originating within the thoracic cavity are rare. The cases herein described highlight the ubiquitous distribution of this neoplasm and the importance of considering this tumour in the differential diagnosis of mediastinal tumours., Methods and Results: Two cases of alveolar soft-part sarcoma of the mediastinum are presented. The patients are two men of 22 and 23 years of age. Clinically, the patients presented with symptoms of chest pain. One tumour was in the anterior mediastinum while the second tumour was in the posterior mediastinum. Even though the bulk of the tumours were in mediastinal locations, both patients had pulmonary metastases at the time of diagnosis. Histologically, both tumours showed the classic morphology of alveolar soft part sarcoma, i.e. a proliferation of large polygonal cells with round to oval nuclei, prominent nucleoli and moderate amounts of eosinophilic cytoplasm arranged in a prominent alveolar pattern. Periodic acid-Schiff stains showed the characteristic diastase-resistant intracytoplasmic crystals. Immunohistochemical studies showed focal myoglobin reactivity in one case, while cytokeratin, vimentin, S100 protein, chromogranin, synaptophysin, neurofilaments, leu-enkephalin, desmin, smooth muscle actin and muscle-specific actin were negative in both cases. The patient with the anterior mediastinal tumour died of disease 14 months after diagnosis, and the patient with the posterior mediastinal mass remained well for at least 15 years and was later lost to follow-up., Conclusions: As has been observed in other anatomic areas, namely soft tissues, alveolar soft part sarcomas may follow an uncertain natural history. Interestingly, in our cases, the tumour in the anterior mediastinum followed a fatal course raising the possibility that the anatomic location of the tumour may have play a role in the behaviour of the tumour.

A 34-year-old housewife presented to a hospital because of dry cough. Her chest radiograph showed bilateral multiple nodular lesions. Smaller but similar lesions had been seen on the chest radiograph 2 years earlier. Because the tissue taken during a trans bronchial biopsy was non-diagnostic, open lung biopsy was done and the diagnosis was pulmonary metastasis of alveolar soft part sarcoma. The primary tumor was found in her left calf by MRI. Malignant tumors are important for differential diagnosis of slow-growing multiple pulmonary nodules, and in some cases MRI is useful for finding the primary site.

Sarcoma metastatic to the brain is uncommon and rarely occurs as the initial manifestation of tumor. Alveolar soft-part sarcoma, a rare but well studied subtype of a soft tissue sarcoma with a propensity for central nervous system invasion, presenting with brain metastases, has been reported only once previously. We report the case of a 28-year-old man who presented with partial seizures and who was found to have a homogeneously enhancing frontal lesion on a broad dural base disclosed by computed tomography. preoperatively, the lesion was thought to be a meningioma. The tumor was excised easily and had features typical of an alveolar soft-part sarcoma, which were revealed by light and electron microscopy as well as immunohistochemical analysis. Multiple lung nodules compatible with metastases were found on a chest film. Meningeal dissemination has been reported in a variety of sarcoma types, including rhabdomyosarcoma, fibrosarcoma, and leiomyosarcoma. We add alveolar soft-part sarcoma to this list and suggest that increased recognition of the propensity for these tumors to exhibit metastatic spread to the dura should eliminate diagnostic confusion and provide an earlier diagnosis of these rare lesions. The patterns of spread in metastatic sarcoma deserve further study.