Cheek alveolar soft part sarcoma recurrence at the primary site during follow-up: a case report and review of the literature.

BACKGROUND: Alveolar soft part sarcoma (ASPS) occurs most often in the deep muscles or fascia of the extremities in adults, with only 3.4% of these tumours originating from the head, face and neck. To date, only 17 cases of buccal ASPS have been reported, including the case presented here. Only one case of ASPS recurrence at the primary site, similar to our case, has been reported thus far. Immune checkpoint inhibitors (ICPis)-associated diabetes, with an estimated incidence of 0.43%, is usually seen in older cancer patients and has not been reported in younger people or in patients with ASPS. CASE PRESENTATION: A 24-year-old male patient presented with a slowly progressing right cheek mass with a clinical history of approximately 28 months. Sonographic imaging revealed a hypoechoic mass, which was considered a benign tumour. However, a pathological diagnosis of ASPS was made after excision of the mass. Five days later, functional right cervical lymph node dissection was performed. No other adjuvant therapy was administered after surgery. In a periodic follow-up of the patient six months later, blood-rich tumour growth was noted at the primary site, and Positron emission tomography-computedtomography (PET-CT) ruled out distant metastasis in other areas. The patient was referred to the Ninth People's Hospital of Shanghai Jiaotong University. Due to the large extent of the mass, the patient received a combination of a Programmed Cell Death Ligand 1(PD-L1) inhibitor and a targeted drug. Unfortunately, the patient developed three episodes of severe diabetic ketoacidosis after the administration of the drugs. A confirmed diagnosis of ICPis-associated diabetes was confirmed. After the second operation, the postoperative pathological diagnosis was ASPS, and the margins were all negative. Therefore, we made a final clinical diagnosis of ASPS recurrence at the primary site. Currently in the follow-up, the patient is alive, has no distant metastases, and undergoes multiple imaging examinations every 3 months for the monitoring of their condition. CONCLUSIONS: In analysing the characteristics of all previously reported cases of buccal ASPS, it was found that the clinical history ranged from 1 to 24 months, with a mean of approximately 3 to 9 months. Tumour recurrence at the primary site has been reported in only one patient with buccal ASPS, and the short-term recurrence in our patient may be related to the extraordinarily long 28-month history. ICPis-associated diabetes may be noted in young patients with rare tumours, and regular insulin level monitoring after use is necessary.

Treatment of metastatic alveolar soft part sarcoma with axitinib and pembrolizumab in an 80-year-old patient with a history of autoimmune disorders.

Alveolar soft part sarcoma (ASPS) is a rare malignancy with low sensitivity to chemotherapy. While localized ASPS has a very good prognosis after resection, the 5-year overall survival rate drops substantially in metastatic disease. We report the case of an 80-year-old male patient with ASPS of the left elbow and metastasis to the lung, lymph nodes and peritoneum. After weighing the benefits and risks, systemic treatment with the anti-PD-1 checkpoint inhibitor pembrolizumab combined with the vascular endothelial growth factor receptor tyrosinkinase inhibitor axitinib was initiated in this patient with a history of psoriasis and Crohn's disease. After only two cycles of therapy, a significant size reduction of the nodal cervical metastasis became apparent. A partial response of all metastases was then confirmed in the first computed tomography restaging. So far, side effects have remained manageable, especially with regard to the development or worsening of autoimmune adverse events. The patient continued to have a high quality of life, while also remaining in ongoing partial response for 15 months at the time of submission. While sarcomas generally have low sensitivity to immunotherapies, ASPS is an exception, and checkpoint inhibition is an integral part of its systemic therapy.

Alveolar soft tissue sarcoma: a report of 50 cases at a single institution.

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.

Primary intracranial alveolar soft part sarcoma in a 22 years old female: a rare case report with literature review.

Alveolar soft part sarcoma is a very rare malignant neoplasm of peripheral muscular, adipose or neural tissue. Its occurrence, as a primary intracranial tumour, is even rarer. To the best of our knowledge, only nine cases of primary intracranial alveolar soft part sarcoma exist in English scientific literature. We attempt to write a comprehensive review on this poorly understood intracranial malignancy, with no evident systemic lesions, such as in the case of our 22 years old patient. In addition to absent definitive proof of benefit of radiologic or chemotherapeutic management, we highlight the role of surgery as the primary treatment. Younger patients with this tumour may have a worse prognosis than elderly patients.

Alveolar Soft Part Sarcoma of Uterine Corpus in a Young Female: A Case Report With Review of Literature.

Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma, often occurs in adolescents and young adults with a particular predilection for the deep soft tissue of extremities. Occurrence of ASPS in the female genital tract is very uncommon and poses a significant diagnostic challenge. A case of ASPS of the uterine corpus is described in a young unmarried female, who presented to the out-patient clinic of our Institute with complaints of abnormal uterine bleeding for the past 9 mo. She was being treated with oral contraceptive pills, progesterone and tranexamic acid. Following radiological imaging and hysteroscopy, a therapeutic curettage of the lesion was done. The histopathologic features raised a differential diagnosis of a myriad of morphologic mimickers. The diagnosis was clinched by exclusion of mimickers by relevant immunohistochemical markers and strong nuclear expression of TFE3 on immunohistochemistry. The patient is on regular follow-up with oral contraceptives and antifibrinolytic medication. Despite being infrequent at this location, ASPS should be kept in differential diagnosis in young females presenting with abnormal uterine bleeding.

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.

Primary alveolar soft part sarcoma of the rectum resected by endoscopic submucosal dissection: A case report.

Alveolar soft part sarcoma (ASPS) is a very rare soft tissue sarcoma. Primary ASPS of the gastrointestinal tract is especially rare. Due to the scarcity of cases, neither its clinicopathologic features nor its mutational background has been clarified. Here, we report a case of ASPS arising from the rectum, which was completely resected by endoscopic submucosal dissection. The lesion was a 17 × 16 × 15 mm semi-pedunculated mass in the upper portion of the rectum in a 46-year-old female. In terms of histology, tumor cells exhibited confluent eosinophilic cytoplasm, forming a sheet-like architecture. Periodic acid Schiff-positive diastase-resistant intracytoplasmic crystals were observed in the tumor cells. Fluorescence in situ hybridization revealed TFE3 rearrangement, and reverse transcription polymerase chain reaction revealed an ASPSCR1-TFE3 type 1 fusion. Negative PAX8 immunostaining and the absence of other massive lesions in postoperative imaging studies led to a diagnosis of primary ASPS of the rectum. The potential oncogenic role of the canonical ASPSCR1-TFE3 fusion transcript in gastrointestinal ASPS was indicated. Primary gastrointestinal ASPS remains a diagnostic pitfall in routine surgical pathology.

Paediatric orbital alveolar soft part sarcoma recurrence during long-term follow-up: a report of 3 cases and a review of the literature.

BACKGROUND: Alveolar soft part sarcoma (ASPS) is a clinically and morphologically distinct malignant soft tissue tumour. It occurs mostly in the lower extremities in adults. The purpose of our study was to describe the related clinicopathologic factors, treatment and prognosis of recurrent orbital ASPS in children. CASE PRESENTATION: Three children aged from 1 to 12 years presented with unilateral proptosis, restricted ocular motility and impaired visual acuity of the affected eye. Periodic acid Schiff (PAS) -positive diastase-resistant crystalline granules were found in all cases. Immunostaining of TFE-3, INL1 and Ki67 was positive in the tumour cells of two patients. The time until local recurrence of primary tumor in patient 2 and patient 3, who only underwent tumour resection, was shorter than that of patient 1, who underwent tumour excision and postoperative radiotherapy. The recurrent masses were successfully treated with complete tumour excision followed by adjuvant radiotherapy. Patient 1 presented metastasis at 11 years after radiotherapy. CONCLUSIONS: Orbital ASPS in children is easily misdiagnosed due to its rare occurrence and atypical clinical findings. Early diagnosis with multidisciplinary, complete surgical resection combined with adjuvant radiotherapy is essential for achieving long-term disease-free survival in orbital ASPS patients.

Parapharyngeal Alveolar Soft Part Sarcoma in a 5-Year-Old Child.

Alveolar soft part sarcoma (ASPS) is a rare malignancy of head and neck region; orbit and tongue being most common subsites affected by this rare tumor. A 5-year-old female presented with computed tomography scan evidence of right-sided prestyloid parapharyngeal mass. Complete excision was performed through trans-cervical approach. Histopathology, special stain, and immunohistochemistry of the resected specimen confirmed the diagnosis of ASPS. Three-year follow-up did not reveal any local recurrence or distant metastases. Review of the English-language scientific literature did not reveal any documented case of parapharyngeal space ASPS in pediatric age. Only 1 clinical report of ASPS in a 42-year-old female has been documented.

Alveolar Soft-Part Sarcoma of the Tongue.

Alveolar soft-part sarcoma is a rare neoplasm of unknown histogenesis that accounts for less than 1% of all soft-tissue sarcomas. The tumor is highly vascularized with small vascular spaces separating nests of cells, and from cytogenetic point of view, is characterized by chromosome rearrangement der(17)t(X:17)(p11:q25) that results in the ASPL-TFE3 translocation. It can occur at any age, but it is most common between 15 and 35 years of age. The prognosis is poor, despite the relatively slow growth of the tumor. We present here an atypical case of alveolar soft-part sarcoma in which the age of the patient, the location, and the histopathologic characteristics of the lesion represented a diagnostic challenge.

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.

Fine needle aspiration of alveolar soft part sarcoma in a child: Cytomorphological clues for the surgical pathologist.

Alveolar soft part sarcoma (ASPS) is a rare soft tissue neoplasm generally affecting adolescents and young adults. Its unique histologic and ultrastructural features have been well-described; however, the cytopathological features of ASPS are less well-characterized, and recognition of this entity's features on cytologic preparations can ensure that the specimen adequacy and appropriate/rapid tissue allocation for additional testing. Herein we report a FNA case of ASPS with emphasis on cytomorphologic characteristics.

Surgical management and outcome of spinal alveolar soft part sarcoma (ASPA): a case series of five patients and literature review.

BACKGROUND: Alveolar soft part sarcoma (ASPS) is a rare entity of soft tissue malignancies with uncommon spinal involvements. Surgical management should be the best choice of cure. METHODS: Five patients with spinal ASPS were interviewed retrospectively, where data was collected. The relevant literatures were also systematically examined. Thereafter, patient and surgical data were obtained and pooled for prognostic analysis. RESULTS: A total of five patients with eight surgeries were reviewed retrospectively, and three patients previously reported were also included. All patients were surgically treated, where five of them underwent additional adjuvant therapies such as chemotherapy, radiotherapy, and targeted therapy in order to manage their local and/or systematic diseases. One patient was lost in follow-up. For the remaining seven patients, the mean follow-up period was 19.7 ± 8.8 months, two succumbed to disease while five were alive at the time of the study. CONCLUSIONS: Surgical management is shown to be the most important and the most effective treatment strategy for spinal ASPS, whereas adjuvant therapies made little impact. The prognostic factors for spinal ASPS are primary or metastatic lesions, neurological status, disease progression, systematic conditions, and resection approaches.

Laryngeal alveolar soft part sarcoma: A case report of a rare malignancy in an atypical location.

Laryngeal sarcoma is a rare and potentially aggressive malignancy. In this case report, we present a 23year-old-male with four-years of progressive hoarseness who was found to have a large left paraglottic mass. A partial laryngectomy was successful at completely excising the lesion. Final pathology returned as alveolar soft part sarcoma. Alveolar soft part sarcomas of the larynx are extremely rare with only five cases published in the current literature. This article provides a case presentation with literature review of alveolar soft part sarcoma of the head and neck.

Alveolar soft-part sarcoma in the sacrum: a case report and review of the literature.

Alveolar soft part sarcoma (ASPS) is a rare disease of the soft tissue. Although the disease is rare, it is refractory to chemotherapy and radiation. En bloc surgical resection offers the best chance of cure. In this article we report the case of a 28-year-old woman who presented with buttock and leg pain, bowel, bladder and gait impairment and a large mass in the sacrum. Following surgical excision, the lesion was proven to be ASPS. On pathology, the mass was TFE3 (transcription factor E3) positive, indicating the presence of the ASPL-TFE3 (novel gene-transcription factor) translocation. Following surgery, the patient had improvement in her pain and ambulation; however, she refused adjuvant therapy to pursue hospice care and succumbed to her disease 2 years after surgery. On a review of the literature, it was found that ASPS of the bone constitutes a rare and formidable subset of this disease. Further, metastases related to ASPS are common in the lungs, liver, brain, and lymph nodes. The degree of dissemination is a predictor of outcome, with 5-year survival of 81-88% in patients with local disease and only 20-46% in patients with metastatic disease at the time of presentation. Brain metastases at the time of presentation portend the worst prognosis.

Alveolar soft part sarcoma of the uterine corpus: A 13-year follow-up case report and review of the literature.

OBJECTIVE: Female genital alveolar soft part sarcoma (ASPS) is rare and has a favourable prognosis compared to ASPS from other sites. We reported our experience to manage a case with uterine corpus ASPS (UC ASPS) and conducted a literature review on prognosis of ASPS from different sites of female genital tract. CASE REPORT: This report represented a 33-year-old woman who had UC ASPS. She received tumor excision with uterine preservation and had the longest follow-up time (155 months) without recurrence in the literature. CONCLUSION: UC ASPS has better prognosis than ASPS from the uterine cervix, the low uterine segment, vulvovaginal area and perineum. We recommended conservative treatment for young women with UC ASPS.

Primary Intracranial Alveolar Soft Part Sarcoma: A Report of 3 Cases.

Alveolar soft part sarcoma (ASPS) commonly involves extremities and head and neck regions. Primary intracranial ASPS is rare. We report a series of 3 primary intracranial ASPS. These were not suspected clinically and histopathology with immunohistochemistry proved to be diagnostic in all 3 tumors.