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Objective: Alveolar soft part sarcoma (ASPS) is an aggressive, rare tumour with unique morphological and histopathological features., Methods: We report a rare case of orbital ASPS and its management in a young male who presented with painless proptosis and progressive loss of vision., Result: Twenty-two year male presented with a history of gradually increasing proptosis with loss of vision since 12months. He underwent radical re-excision of mass with right orbital exenteration and reconstruction using temporalis muscle flap. Adjuvant radiotherapy to a dose of 64Gy in 32 fractions over 6.5weeks was planned in view of positive surgical margins. Patient is free of disease and currently under follow up in multidisciplinary clinic., Conclusion: Function preserving surgery remains the standard treatment approach in localised disease however the complex anatomy and locally aggressive nature makes it difficult to achieve clear surgical margin. Adjuvant radiotherapy has shown to improve local control in patients with positive surgical margins., (Copyright © 2017 National Cancer Institute, Cairo University. Production and hosting by Elsevier B.V. All rights reserved.)

Alveolar soft part sarcoma (ASPS) is a morphologically distinctive neoplasm of unknown differentiation that bears a characteristic gene fusion involving ASPSCR1 and TFE3. ASPS can occur in the female genital tract, but is rare. Eleven cases with an initial diagnosis of ASPS at female genital tract sites were evaluated for their morphologic features and immunoprofile using a panel of antibodies (TFE3, HMB45, melan-A, smooth muscle actin, desmin, and h-Caldesmon). In addition, the presence of TFE3 rearrangement and subsequent ASPSCR1-TFE3 fusion were determined by fluorescence in situ hybridization. Ten tumors retained their classification as ASPS based on their morphologic appearance, immunohistochemical profile, and demonstration of ASPSCR1-TFE3 fusion. The remaining case was reclassified as conventional-type PEComa due to its pattern of HMB45, melan-A, and desmin positivity as well as absence of TFE3 rearrangement. Sites of the 10 ASPS were uterine corpus (3), cervix (2), uterus not further specified (2), vagina (2), and vulva (1). The age of the patients ranged from 15 to 68 years (mean 34 y, median 32 y). The tumors demonstrated a spectrum of morphologic features, but all had a consistent immunophenotype of strong TFE3 nuclear expression and lack of muscle (smooth muscle actin, desmin, h-Caldesmon) and melanocytic (melan-A, HMB45) markers, except focal positivity for HMB45 in 1. Follow-up was available for 4 patients ranging from 1 to 35 months (mean 15 mo, median 25 mo) and they were alive and had no evidence of recurrence or metastasis at last follow-up. Distinguishing ASPS from its morphologic mimics, particularly PEComa, is important due to increasingly efficacious targeted agents such as MET-selective and VEGF signaling inhibitors in the former and mTOR inhibition therapy in the latter.

A 20-year-old woman with a perineal alveolar soft part sarcoma was referred to our hospital. MRI showed that an irregular oval tumor occupied the perineum. The tumor was contiguous to the vagina, rectum, levator muscle, and pubis and was diagnosed as alveolar soft part sarcoma by transvaginal biopsy. Laparoscopy-assisted total pelvic exenteration combined with a pubic resection was performed, and an R0 resection with a wide margin was achieved. It is well known that only R0 resection improves the outcome of patients with localized alveolar soft part sarcoma. In this case, the perineal manipulation was difficult because the tumor was huge and had a rich blood flow. Massive bleeding occurred during the perineal manipulation. However, we kept the operative field dry thanks to minimal intraoperative blood loss during the laparoscopic phase. The laparoscopic approach might be advantageous for such a demanding surgical procedure for tumors in the distal pelvis and perineum., (© 2016 Japan Society for Endoscopic Surgery, Asia Endosurgery Task Force and John Wiley & Sons Australia, Ltd.)

Background: Alveolar Soft Part Sarcoma is a rare malignant tumor of uncertain histogenesis, representing 0.5-1% of all soft tissue tumors. It occurs predominantly in head and neck regions, especially the orbit and the tongue, in infants, causing no specific symptoms for an extended period of time., Case: A four year old girl was brought to consultation because of persistent swelling of her left upper and lower eyelid for the past six months. A 4 mm proptosis was noted on her left eye with significant upwards displacement of the globe. A firm, not pulsating and non tender mass was palpated, and motility examination revealed deficient abduction and infraduction. Visual acuity was 20/40 and 1/200 in the right and left eye, respectively. The computed tomography revealed an extraconal mass on the inferotemporal aspect of the left orbit, with no bony erosion or globe invasion. An excisional biopsy was made, finding a tumor with nests of clusters of large polygonal cells, separated by fibrous septa and a sinusoidal vascular channel. An Alveolar Soft Part Sarcoma was diagnosed. Our patient had a favorable post-operative follow up, and oncologic evaluations have not shown metastasis or local recurrences. Observations and Conclusions: Alveolar Soft Part Sarcoma is a rare malignant tumor of indolent course, but with propensity to distant metastases, making early diagnose and long term follow up necessary., (© NEPjOPH.)

Objective: To study the clinicopathologic features and differential diagnosis of alveolar soft part sarcoma (ASPS)., Methods: The clinical data and pathologic features of 48 cases of ASPS were evaluated. Immunohistochemical study, PAS staining and fluorescence in-situ hybridization (FISH) were carried out in selected examples. Relevant literature was reviewed., Results: Amongst the 48 cases studied, there were 17 males and 31 females, with male-to-female ratio of 1.0∶1.8. The age of patients ranged from 2 to 60 years (median=26 years). The tumor was most commonly located in deep soft tissue, especially that of lower extremities. Histologically, the tumor cells were arranged in alveolar or solid patterns and separated by sinusoidal vessels. They were large and contained abundant eosinophilic granules or crystals in cytoplasm. The nuclei were round to polygonal and vesicular, often with prominent nucleoli. Intravascular tumor extension was common. Some cases showed necrosis, hemorrhage and cystic changes. Immunohistochemical study showed that the tumor cells were positive for TFE3 (100%, 33/33). FISH assay was carried out in 4 cases and all of them had TFE3-ASPL gene fusion., Conclusions: ASPS is a rare malignant neoplasm, often occurs in young patients. TFE3 is a useful immunohistochemical marker for diagnosis. The diagnosis is further confirmed by other markers.

Background: Xp11.2 or TFE3 translocation renal cell carcinomas (RCC) and alveolar soft part sarcoma (ASPS) are characterized by chromosome translocations involving the Xp11.2 breakpoint resulting in transcription factor TFE3 gene fusions. The most common translocations documented in TFE3 RCCs are t(X;1) (p11.2;q21) and t(X;17) (p11.2;q25) which leads to fusion of TFE3 gene on Xp11.2 with PRCC or ASPL respectively. TFE3 immunohistochemistry (IHC) has been inconsistent over time due to background staining problems in part related to fixation issues. Karyotyping to detect TFE3 gene rearrangement requires typically unavailable fresh tissue. Reverse transcriptase-polymerase chain reaction (RT-PCR) is generally very challenging due to degradation of RNA in archival material. The study objective was to develop and validate a TFE3 break-apart fluorescence in situ hybridization (FISH) assay to confirm Xp11 translocation RCCs and ASPS., Methods: Representative sections of formalin-fixed paraffin-embedded tissue blocks were selected in 40 possible cases. Approximately 60 tumor cells were analyzed in the targeted region. The validation of TFE3 FISH was done with 11 negative and two positive cases. Cut off for a positive result was validated as >7.15 % positive nuclei with any pattern of break-apart signals. FISH evaluation was done blinded of the immunohistochemical or karyotype data., Results: Three out of forty cases were positive for the TFE3 break-apart signals by FISH. The negative cases were reported as clear cell RCC with papillary features (10), clear cell RCC with sarcomatoid areas (2), Papillary RCC with clear cell areas (9), Chromophobe RCC (2), RCC, unclassified type (3) and renal medullary carcinoma (1). 3 of the negative cases were consultation cases for renal tumor with unknown histology. Seven negative cases were soft tissue tumor suspicious for ASPS., Conclusion: Our study validates the utility of TFE3 break-apart FISH on formalin-fixed paraffin-embedded tissue sections for diagnosis and confirmation of Xp11.2 translocation RCCs and ASPS.

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.

Pediatric tumors are heterogenous and can be quite varied in appearance. However, those in the infamous "small round blue-cell tumor" group, with their hyperchromatic nuclei and small amount of cytoplasm can be challenging, and their diagnosis and prognostication require cost-efficient and focused immunohistochemistry and ancillary testing. Ideally, ample material should be obtained for routine histology and ancillary testing, including immunohistochemistry, fluorescent in situ hybridization, fresh tissue for cytogenetic studies, and snap-frozen tumor for DNA/RNA extraction both for routine molecular testing (ie, reverse-transcription PCR studies), as well as future research study protocols (genome wide studies, targeted gene sequencing). This review focuses on the main pediatric tumors with emphasis on immunophenotype, keeping in mind that a directed panel approach yields the highest yield with combination of clinical history, histologic features, and ancillary molecular testing.

Objectives: To summarize the clinical features, diagnosis, treatment strategies, and prognosis of alveolar soft part sarcoma (ASPS) of the oral and maxillofacial region., Study Design: We performed a retrospective study in a consecutive series of 18 patients with ASPS of the oral and maxillofacial region between 1995 and 2013. Demographic characteristics, tumor sizes, sites, tumor metastasis, diagnosis, treatments, and overall follow-ups were documented., Results: The 18 patients were diagnosed pathologically with primary tumor developed on the tongue (10), the cheek (5), the pharynx (1), and the gingiva (2) with an average tumor size of 4 cm. At the latest follow-up, 1 patient with lung metastases survived for 23 months; 1 died 3 months after the confirmation of local recurrence and multiple pulmonary metastases; the rest of the patients were disease free and remained in good health., Conclusions: ASPS of the oral and maxillofacial region appears to have special clinical characteristics., (Copyright © 2015. Published by Elsevier Inc.)

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.

Objective: There are few studies in the literature regarding the imaging features of alveolar soft-part sarcoma (ASPS). We performed a comprehensive assessment of the imaging characteristics of this rare tumor to determine whether there are features that suggest the diagnosis., Materials and Methods: Twenty-two subjects with ASPS underwent pretherapy imaging as part of enrollment in Children's Oncology Group protocol ARST0332 for the treatment of nonrhabdomyosarcoma soft-tissue sarcomas: 16 patients underwent MRI; three, CT; and three, both MRI and CT. Two radiologists retrospectively reviewed the imaging studies by consensus and recorded tumor location, size, contour, internal architecture, signal characteristics, presence of flow voids, and enhancement patterns., Results: The 12 females and 10 males in the study group ranged in age from 8 to 23 years 7 months (mean, 15 years 8 months). The most common anatomic site was the lower extremity (12/22, 55%) followed by the upper extremity (4/22, 18%). The maximal tumor diameter ranged from 2.3 to 20.0 cm (median, 5.9 cm). All tumors imaged with MRI had flow voids (19/19, 100%), and 19 (19/22, 86%) had large peripheral vessels, lobulated margins, and nodular internal architecture. Unenhanced T1-weighted MRI was available for 18 tumors: 14 (14/18, 78%) appeared slightly hyperintense to muscle. Of the 16 tumors imaged with contrast material, 11 (11/16, 69%) showed intense enhancement and five (5/16, 31%), moderate enhancement. Six tumors (6/16, 38%) had a thick enhancing peripheral rim with a nonenhancing center consistent with necrosis., Conclusion: The imaging features of ASPS include flow voids, large peripheral vessels, internal nodularity, and lobulated margins. Contrast administration produces intense to moderate enhancement, sometimes with a thick enhancing peripheral rim around central necrosis. Extremity tumors with these imaging features in a child or young adult should suggest the diagnosis of ASPS.

Background: Alveolar soft part sarcoma (ASPS) is a rare type of soft tissue sarcoma. The infrequency of ASPS is such that it accounts for <1% of all soft tissue sarcomas and <0.1% of sarcomas concerning the head and neck, primarily those involving the orbit (48%) and tongue (25%). Traditional chemotherapy or radiotherapy of ASPS is often associated with poor outcome, even after comprehensive interventions., Methods and Results: We performed iodine-125 ((125) I) seed brachytherapy under ultrasound guidance through a submandibular puncture in a 4-year-old boy with recurrent ASPS of the tongue. The prescription dose was 120 Gy; therefore, 35 (125) I seeds were implanted with 0.77 mCi per seed, the total amount of activity being 26.95 mCi. CT scans confirmed a complete response after the treatment., Conclusion: Our patient now has a recurrent-free survival of >30 months, an amount of time longer than the median rate described in the literature., (© 2014 Wiley Periodicals, Inc.)

Alveolar soft part sarcoma (ASPS) is a rare type of neoplasm, typically occurring in adolescents and young adults. Because of the rarity of this disease, there is no standard treatment plan. Chemotherapy and radiotherapy are not effective in this type of malignancy. Surgical excision is considered to be the treatment of choice. We report a case of a young woman with a painless mass in her left lower abdomen. Ultrasonography and CT scan revealed a large (21 cm) hard tumor occupying the left retroperitoneal space, which was surgically excised in our surgery department. The pathological diagnosis was ASPS.

Alveolar soft part sarcoma (ASPS) is an extremely rare malignant soft tissue sarcoma primarily affecting young patients. It usually occurs in the lower extremities, although it can occur in soft tissue anywhere in the body. However, to our knowledge, there has been no case of primary ASPS originating from the kidney in the literature. We herein present the imaging and clinical features of an ASPS which occurred in a 16-year-old male presented as a palpable mass in the left side of the abdomen.

Alveolar soft part sarcoma (ASPS) is a rare form of soft tissue sarcoma and is most often seen in adolescents and young adults. Despite its unique histology and well-characterised genetic translocation, many questions remain regarding the pathogenesis and treatment of this tumour type. Surgical excision of the primary tumour and pulmonary metastases has resulted in prolonged survival of some patients while the benefit of adjuvant chemotherapy and/or radiotherapy has been disputed. A 35-year-old woman presented with a tumour in the right leg and right side of the mandible along with active metastasis to lungs and multiple skeletal sites.

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.

Alveolar soft part sarcoma (ASPS) is a rare, histologically distinct, soft tissue malignancy with nonspecific clinical features usually described as a nonulcerated, painless, expanding mass. It has a pseudoalveolar appearance with clustered polygonal cells lacking central cohesion. It accounts for approximately 0.5 to 1% of all soft tissue sarcomas. It has a strong predilection for adolescents and young adults 15 to 35 years old, with a female predominance. In general, ASPS grows slowly, with a predilection for the trunk and extremities and rarely in the head and neck region. A literature review found only 11 cases of cheek ASPS that have been reported since 1952. This report describes the case of an unusually rapidly growing mass in the cheek of a 36-year-old woman. The superficial location of the mass led to early detection and treatment., (Copyright © 2014 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: Alveolar soft part sarcoma (ASPS) is a rare soft tissue tumor that usually affects young patients. Because of the rarity of the disease, most reports relating to ASPS are in the form of case reports or small series., Methods: We performed a retrospective study to evaluate the clinicopathologic features, treatment, outcome and pattern of treatment failure in a consecutive series of patients with localized or metastatic ASPS between 1996 and 2011. Demographics, tumor sizes, sites and extent of disease, treatments provided, progression-free survival, and overall survival were evaluated., Results: A total of 19 patients were identified. The clinical assumptive diagnosis of the first medical examination doctor was benign soft tissue tumor in 5 cases (26%) and benign hemangioma in 4 cases (21%), delaying treatment. The most common location of primary tumor was the thigh. The median diameter of the mass was 55 mm (range, 10 to 130 mm). An R0 resection was obtained in 11 cases. Adjuvant radiotherapy was delivered in 8 cases; postoperative systemic chemotherapy was delivered in 10 cases. Eight out of 15 patients (53%) exhibited metastases either at presentation or later. Median overall follow-up was 54 months., Conclusions: The treatment principle for alveolar soft tissue sarcoma is massive resection, and when the surgical margin is questionable, radiation treatment can be added for prevention of local recurrence. Also, due to discovery of metastases and local recurrence, even after 5 years of general treatment, outpatient department follow-up is needed, and we need to keep in mind that lung, intracranial, and bone metastases are common.

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).

Background: Alveolar soft part sarcoma is a rare but highly malignant tumour and little is known about its radiologic pattern in children., Objective: To describe the radiologic features of alveolar soft part sarcoma in children and adolescents., Materials and Methods: We retrospectively analysed the clinical and imaging data of six children age 7-17 years at diagnosis, with histologically or genetically proven alveolar soft part sarcoma., Results: The tumours were located deep within muscles of the limbs (n = 4), in chest wall muscle (n = 1) and in the orbit (n = 1). High-flow feeding arteries, large drainage veins and intense enhancement were consistent findings by all imaging modalities. At MRI, all tumours demonstrated high signal intensity on T2-weighted images and high or iso-intense signal on T1-W imaging compared to muscle. In tumours larger than 70 mm in one dimension (n = 3/6), large vessels converging toward the tumour centre led to a highly vascularised central stellar area pattern. Five children demonstrated synchronous (n = 4/5) and metachronous (n = 1/5) lung metastases., Conclusion: Alveolar soft part sarcoma should be suggested when a highly vascularised, intramuscular mass demonstrating large feeding and drainage vessels converging toward a central stellar area is seen in children, especially if synchronous lung metastases are present.

Alveolar soft part sarcoma (ASPS) is a relatively rare tumor that mostly presents as a slow growing mass in the deep soft tissue of the extremities. A substantial number of cases in children occur in the head and neck region; however, in any age group, it is very rarely reported in the sinonasal region. We report a case of ASPS of the paranasal sinuses with sellar extension in a 25-year-old man that masqueraded as a giant invasive pituitary adenoma. This is only the fifth case of sinonasal ASPS in literature. The clinical and radiological diagnoses were misleading, but an extensive pathology workup including electron microscopy helped reach an accurate diagnosis in this unusual case., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Alveolar soft part sarcoma (ASPS) is a rare malignant soft-tissue neoplasm of unknown histogenesis. The two main sites of occurrence are the lower extremities in adults and the head and neck in children. We report the first case of pleural ASPS occurring in a 58-yr-old man who presented with progressive dyspnea. A computed tomographic scan of the thorax revealed a large enhancing pleural mass with pleural effusion in the left hemithorax. Wide excision of the pleural mass was performed. Histologically, the tumor consisted of organoid nests of large polygonal cells, the cytoplasm of which had eosinophilic and D-PAS positive granules. Immunohistochemical staining showed that the tumor cell nuclei were positive for transcription factor 3 (TFE3). The pleural ASPS with multiple bone metastases recurred 1 yr after surgery and the patient died of acute pulmonary embolism 1.5 yr after diagnosis.

Cathepsin K is consistently and diffusely expressed in alveolar soft part sarcoma (ASPS) and a subset of translocation renal cell carcinomas (RCCs). However, cathepsin K expression in human neoplasms has not been systematically analyzed. We constructed tissue microarrays (TMA) from a wide variety of human neoplasms, and performed cathepsin K immunohistochemistry (IHC). Only 2.7% of 1,140 carcinomas from various sites exhibited cathepsin K labeling, thus suggesting that among carcinomas, cathepsin K labeling is highly specific for translocation RCC. In contrast to carcinomas, cathepsin K labeling was relatively common (54.6%) in the 414 mesenchymal lesions studied, including granular cell tumor, melanoma, and histiocytic lesions, but not paraganglioma, all of which are in the morphologic differential diagnosis of ASPS. Cathepsin K IHC can be helpful in distinguishing ASPS and translocation RCC from some but not all of the lesions in their differential diagnosis.

The diagnosis of alveolar soft part sarcoma is commonly based on characteristic histology and distinctive periodic acid-Schiff-positive crystals; however, the characteristic crystals may not always be observed, rendering the diagnosis difficult. Three important characteristics of alveolar soft part sarcoma, the presence of ASPSCR1-TFE3 fusion transcript, nuclear immunoreactivity for TFE3, and immunoreactivity for monocarboxylate transporter 1 and CD147, have recently been reported. To identify the best marker for alveolar soft part sarcoma in formalin-fixed, paraffin-embedded tissues, we evaluated the sensitivity and specificity of the detection of the ASPSCR1-TFE3 fusion transcript along with the immunoreactivity for TFE3 and CD147 in 24 alveolar soft part sarcomas and 23 non-alveolar soft part sarcoma tumors, including 5 granular cell tumors, 5 paragangliomas, 3 clear cell sarcomas, and 10 clear cell renal cell carcinomas. The ASPSCR1-TFE3 fusion transcript was detected in 24 of 24 alveolar soft part sarcomas (7 type 1, 17 type 2), and TFE3 immunoreactivity was observed in 22 of 24 alveolar soft part sarcomas. In non-alveolar soft part sarcoma tumors, the ASPSCR1-TFE3 fusion transcript was not detected; however, the TFE3 immunoreactivity was observed in 2 of 5 granular cell tumors. CD147 immunoreactivity was demonstrated in 20 of 24 alveolar soft part sarcomas, 3 of 5 granular cell tumors, and 8 of 10 clear cell renal cell carcinomas. Our results demonstrate that the most sensitive marker of alveolar soft part sarcoma was the presence of the ASPSCR1-TFE3 fusion transcript. Thus, detection of the ASPSCR1-TFE3 fusion transcript was considered applicable for formalin-fixed, paraffin-embedded tissues with superior sensitivity as compared with TFE3 immunohistochemical staining. In alveolar soft part sarcomas with unusual locations or histology, we consider that the detection of the ASPSCR1-TFE3 fusion transcript would be the highly effective diagnostic technique., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Alveolar soft-part sarcoma (ASPS) is a rare tumor. Cure is based solely on radical surgery. The general prognosis is poor. The tongue is an unusual site in adults, but not in children. Tumor removal can cause a severe impact on quality of life, even if reconstruction is possible. ASPS is a highly vascularized tumor and antiangiogenic therapy may have a role. We describe the use of the antiangiogenic combination bevacizumab and celecoxib in the preoperative management of a patient with an ASPS of the tongue., (Copyright © 2011 Wiley-Liss, Inc.)

Alveolar soft-part sarcoma is a clinically and morphologically distinct soft-tissue sarcoma of adolescent and young adult patients. Though immunohistochemical stains implicate a myogenic origin, the histogenesis of this tumor has not yet been established. Its high vascular nature leads to dissemination of the tumor cells into the bloodstream and metastasis. It comprises less than 1% of all soft-tissue sarcomas and less than 0.1% of sarcomas of the head and neck, preferably involving the orbit (48%) and tongue (25%). Lingual involvement is very rare and only about 31 cases have been reported in English literature. Their deceivingly indolent clinical courses often lead to misdiagnosis and delayed treatment. The reported case indicates its asymptomatic nature and microscopic similarity to granular cell tumor, which is the common benign tumor of the tongue.

Both Xp11.2 translocation renal cell carcinoma (RCC) and alveolar soft part sarcoma (ASPS) are characterized by various translocations disrupting chromosome Xp11.2, which result in gene fusions involving the TFE3 transcription factor gene. Diagnostic tools to detect translocations involving the TFE3 gene on chromosome X would be valuable in the evaluation of these tumors. We developed a dual-color, break-apart fluorescence in situ hybridization (FISH) assay to identify the chromosomal break point in paraffin-embedded tissue. This assay was validated using 4 cases of Xp11.2 RCC [proven by karyotype and/or reverse-transcriptase polymerase chain reaction (RT-PCR)], 2 cases of ASPS (proven by karyotype or RT-PCR), the UOK109 cell line carrying the inv(X) (p11;q12), and several negative controls (both neoplastic and non-neoplastic). This break-apart FISH assay is a relatively quick procedure for detecting Xp11.2 RCC and ASPS translocations and can be applied to archival paraffin-embedded tissue.

Alveolar soft part sarcoma (ASPS) is a distinctive mesenchymal tumor of uncertain histogenesis, which is exceedingly rare in the uterine cervix. We herein report the smallest (1.6 mm) ever published case of ASPS of the endocervix with the characteristic histomorphology and immunohistochemical findings. One-year follow-up was uneventful. Because of its seemingly much better prognosis, it is important in routine practice to distinguish ASPS from adenocarcinoma of the cervix. This is facilitated by the awareness that ASPS can occur in this location and if there is doubt about the diagnosis on routinely stained sections, the appropriate immunohistochemical study should be performed. Owing to the small number of published ASPSs in the cervix, the optimal treatment strategy has yet to be determined.

Alveolar soft-part sarcoma (ASPS) is a rare and often fatal tumor. Overall survival rates have been reported to be 62% after 5 years, 42% after 10 years, and 18% after 20 years. ASPS accounts for 5% of all pediatric soft-tissue sarcomas other than rhabdomyosarcomas. In children, ASPS rarely occurs in the oral cavity, and to the best of our knowledge, only 12 cases of ASPS of the tongue occurring during the first decade of life have been previously reported in the literature. Because of the rarity of lingual ASPS in children, no specific treatment protocols have been developed, which makes its management difficult. We report a new case of lingual ASPS in a young child. Our patient was a 17-month-old girl whose tumor was located at the base of the tongue. She was successfully treated with surgical excision without adjuvant radiation or chemotherapy. Postoperatively, she has remained disease-free during 4 years of follow-up.

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.

Alveolar soft part sarcoma (ASPS) is a rare soft-tissue sarcoma, commonly occurring in children and adolescents. The tumor mostly involves the lower extremities. The prognosis of the patient depends on whether there is metastasis. We present a 19-year-old female with ASPS in her right lower leg. Grayscale and color Doppler ultrasound showed a well-defined hypoechoic lesion with hypervascularity and very low resistive index (RI). Magnetic resonance imaging revealed iso signal intensity to muscle on T1-weighted images, high signal intensity to muscle on T2-weighted images with signal voids, and good enhancement after gadolinium administration. In a mass with hypervascularity and very low RI on sonography and hypervascularity with flow voids on magnetic resonance imaging, ASPS should be considered.