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Ultrasonography and MRI image findings: The mammary tumor was revealed as a hypoechoic, internally heterogeneous mass measuring 22.4 × 16.2 × 21.1 mm (a) with a rich blood supply (b) using ultrasonography, while magnetic resonance imaging findings identified a 3-cm tumor larger than that found on prior imaging (c) (arrow)
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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...
Citations
... The World Health Organization's classification of soft tissue tumours classifies ASPS as "tumours of indeterminate differentiation". ASPS occurring in the cheeks are extremely rare, with only 17 cases reported to date, as shown in Table 1 [8][9][10][11][12][13][14][15][16]. By comparing the clinical manifestations, we found that the mass grew faster than the in situ tumour during recurrence, and the mass was larger in size, but the Ki67 index decreased, which indicated that the tumour was less malignant and invasive, which might be due to the efficacy of our preoperative neoadjuvant chemotherapy or the characteristics of tumour recurrence. ...
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.
... Only 30 MMR deficient bone and soft tissue sarcomas including 3 ASPS were encountered in the literature (13,14). ASPS metastasis to the breast is considered extremely rare and is reported only in a handful of cases but was seen in one of our cases (15). ...
... The present study mirrors similar findings with only 0.4% the cases of ASPS out of all soft tissue sarcomas diagnosed over a period of 10 years. Studies have established that ASPS affects more commonly young adults; concordantly the age range in the present cohort was 2-47 years with four pediatric patients (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16). The literature has a well documented female to male predominance before the age of 30 years, with a reversed ratio for older ages (1-7). ...
Objective: Alveolar soft part sarcoma (ASPS) is characterized by distinctive histomorphology of variably discohesive epithelioid cells arranged in nests and translocation of t(x;17) (p11.2;q25) resulting in ASPSCR1-TFE3 fusion. The aim of the present study is to review the clinical, histopathological, and immunohistochemical profile of ASPS with a focus on unusual histological features.
Material and Method: The present study is retrospective and descriptive. All cases with a diagnosis of ASPS were retrieved with clinical and radiology details.
Results: 22 patients of ASPS were identified. The most common site was the lower extremity and the size range was 3-22 cm. 54.5% of the patients had metastasis, with the lung as the most common site. Metastasis preceded detection of primary tumour in two cases. All cases showed similar histopathology of monomorphic epithelioid cells arranged in nests encircled by sinusoidal vasculature. Architecturally, the organoid pattern (81.8%) was followed by the alveolar pattern. 68.2% of the cases showed apple bite nuclei as the predominant nuclear feature. Rare nuclear features included binucleation (n=13), multinucleation (n=8), pleomorphism (n=4), nuclear grooves in three cases and intranuclear inclusion in one case, mitosis (n=5), and focal necrosis (n=6). All cases were positive for TFE3 and negative for AE1/AE3, EMA, HMB45, PAX8, MyoD1, SMA, synaptophysin, and chromogranin. Only two cases showed focal S100 positivity while one showed focal desmin positivity.
Conclusion: Diffuse strong nuclear TFE3 positivity is sensitive for ASPS in an appropriate clinicoradiological context. Due to the high propensity for early metastasis, complete metastatic work-up and long term follow up is recommended.
... [15] In our cases, the size of the breast tumors was relatively small, approximately 22.2 mm. The most common ultrasonographic appearance of breast metastasis is 1 or more well-circumscribed, homogeneous or heterogeneous hypoechoic nodules, [13,15,16] which cannot be differentiated from benign masses from a purely radiological point of view. Although the breast is an unusual metastatic site, ultrasonographic evidence of breast nodules may be the initial or later finding of alveolar soft tissue sarcoma. ...
Background:
Alveolar soft part sarcoma (ASPS) is a rare tumor but potentially fatal condition. Understanding the imaging and clinical features of ASPS is of certain value for preoperative qualitative diagnosis and clinical treatment of tumors. Nevertheless, there have been only 11 documented case reports describing the sonographic features in the English literature.
Methods:
Three patients with confirmed ASPS occurring primarily in the limbs were enrolled in this study. Complete surgical excision was performed with conservative limb function. We pay particular attention to the ultrasonographic features and performed a literature review of ASPS cases.
Results:
With regular surveillance, one patient had no symptom recurrence and two developed lung and/or breast metastasis later. The specific sonographic findings were heterogeneous hypoechoic, well-circumscribed, and lobulated or round contours on grayscale images, abundant flow signals of intratumoral and extratumoral tubular structures on color Doppler images.
Conclusion subsections:
Its low incidence rate and lack of characteristic clinical manifestations often result in misdiagnosis of ASPS. The specific sonographic findings may add useful diagnostic information.
... In the head and neck region, the most commonly affected sites are the tongue and orbit. Approximately 15 cases of ASPS of the cheek have been reported to date (Table 1) [4][5][6][7][8][9][10][11][12]. The presence of ASPSCR1-TFE3 fusion gene was confirmed by reverse transcriptionpolymerase chain reaction (RT-PCR) in only one of those cases, but the fusion type was unknown [8]. ...
... Primary ASPS of the cheek is exceedingly rare. Although approximately 15 such cases have been reported to date, only this case was confirmed to have type 2 ASPSCR1 (exon 7)-TFE3 (exon 5) fusion transcription (Table 1) [4][5][6][7][8][9][10][11][12]. ...
... In contrast, general ASPS usually presents as a painless and slow-growing mass that rarely causes functional impairment, and it is considered as a high-grade sarcoma by definition [1]. Previous studies have reported that the cheek ASPS sometimes exhibited well-circumscribed margins (4/10, 40%) and round contours (4/10, 40%), while general ASPS had ill-defined margins and lobulated or irregular contours [1,[4][5][6][7][8][9][10][11][12][13]18]. In the cheek ASPS, the mean size was 3.7 cm (range 1.2-10 cm) and mean age was 33.7 years (range 5-57 years), whereas, in general ASPS, the mean size was 6.5 cm (range 1.2-24 cm) and mean age was 25 years (range 1-78 years) [1,[4][5][6][7][8][9][10][11][12]. ...
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.
... It may also have an origin in unusual sites such as the prostate, uterus, bladder, and breasts. Metastasis is usually to the lungs (90%), bone (26%), and brain (11-19%) [2,[7][8][9]. Published reports showed a 3 times higher frequency of brain metastases compared to other sarcomas [10]. ASPS is characterized by an indolent progression with possible spontaneous stabilization or spontaneous regression of the disease [11]. ...
Patient: Female, 24-year-old
Final Diagnosis: Alveolar soft part sarcoma
Symptoms: Headache • palpable abdominal mass
Medication: —
Clinical Procedure: —
Specialty: Oncology
Objective
Rare disease
Background
Alveolar soft-part sarcoma is an uncommon mesenchymal tumor accounting for approximately 0.7% of soft tissue sarcomas in adults. It mainly affects young adults, with a peak incidence between 15 and 35 years old. Available data indicate that surgical resection with adjuvant therapy using tyrosine kinase inhibitor may be considered the standard treatment. The rarity of the disease and resultant data scarcity makes it difficult to establish treatment guidelines.
Case Report
We present the 9-year follow-up of a 24-year-old patient with an initially advanced (stage IV), huge, 21-cm alveolar soft-part sarcoma of the retroperitoneum. During the observation period, the patient developed pulmonary, brain, and bone metastases. In the course of treatment, she underwent excision of the main tumor, excision of satellite tumors, and brain metastasectomies, and was treated with sunitinib, pazopanib, and radiotherapy. No similar case reports were found in the PubMed database.
Conclusions
Our multimodal approach resulted in a long period of stable disease. Late progression may occur; therefore, frequent and thorough imaging evaluation of such patients is crucial. Our case is one of the largest ASPS tumors reported, and her long-term successful treatment makes this report valuable, considering the scarcity of data regarding treatment of ASPS. Further large-cohort, multi-center studies are necessary to establish the best treatment.
... [5] While, in adults patients, majority occur in deep areas of lower extremities and trunk, especially in thigh, but a few are also present in orbital, flexure tendon, breasts, lingual and gastrointestinal tract, and even in head. [2,[6][7][8][9] Since ASPS has no related symptoms in early time, most patients complain with a painless mass as a chief complaint, few patients also complain pain and discomfort accompanied the growing mass. [4] ASPS has high potential ability of metastasis, lung, brain and bone metastases are common. ...
Objective:
Alveolar soft part sarcomas (ASPS) which has high potential ability of metastasis, is a rare and slowly growing malignant tumor, and mainly primary localized in limbs. To date, little is known about the best treatment of ASPS. This study aims to review the current management and advance of ASPS.
Methods:
WANFANG MED ONLINE, CNKI, and NCBI PUBMED were used to search literature spanning from 1963 to 2020, and all cases of ASPS about "ASPS, diagnosis, treatment, surgery, radiotherapy, chemotherapy, target therapy or immune therapy" with detailed data were included.
Results:
Complete surgical resection remained the standard management strategy, radiotherapy was reported to be used for the patients of micro- or macroscopical incomplete residue or the surgical margin was questionable. Chemotherapy was controversial. Some target drugs and immune checkpoint inhibitors had produced antitumor activity.
Conclusion:
Complete surgical resection is the cure treatment for ASPS, and adjuvant chemotherapy is not recommended excepted clinical trials. For the patients with micro- or macroscopical incomplete residue, radiotherapy should be appreciated. Furthermore, for recurrence, distant metastasis, and refractory of ASPS, combination therapy, especially combination with multiple target agents and/or immune checkpoint inhibitors may prolong survival time.
... ASPS was first described by Christopherson et al [2] in 1952, deriving its name from its histological appearance [1][2][3] . The most common locations of ASPS are the lower extremities, head, and neck [4][5][6] . Metastases are usually demonstrated in 20%-40% of the patients at the time of diagnosis, commonly involving the lung, bone, and brain [7,8] . ...
... Adolescents and young adults, aged 15-35 years with a male to female ratio of 1:2, are more likely to be affected [1][2][3] . ASPS often develops in the lower extremities for adults; however, the head and neck are more frequently involved in children [4][5][6] . The prognosis of ASPS depends on the presence of metastasis, tumor size, and patient age at the time of diagnosis [7,8] . ...
Background:
Alveolar soft part sarcoma (ASPS) is an extremely rare malignant sarcoma, accounting for less than 1% of all soft-tissue sarcomas. However, limited information is available on multimodal imaging [computed tomography (CT), magnetic resonance imaging (MRI), and positron emission computed tomography/computed tomography (PET/CT)] of ASPS.
Case summary:
This study reports a case of a 35-year-old female patient with ASPS of the left thigh with lung metastasis. The patient presented with a 1-year history of a palpable mass in the lower extremity, which exhibited rapid growth for 3 wk. CT, MRI, and F-deoxyglucose PET/CT examinations were performed. CT showed a slightly hypodense or isodense mass with patchy calcifications. On MRI examination, the mass manifested hyperintensity on T1-weighted, T2-weighted, and diffusion-weighted images with some signal voids. PET/CT images demonstrated an intensely hypermetabolic mass in the left thigh and hypermetabolic nodules in lungs.
Conclusion:
ASPS should be considered as a possible diagnosis when a slow-growing mass is detected in the soft tissue of the extremities, with hyperintensity and numerous signal voids on T1-weighted, T2-weighted, and diffusion-weighted images and intense F-deoxyglucose uptake on PET/CT. ASPS can have calcifications on CT.
Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma with unique tumor characteristics, which is rare in children. Herein, we present the immunophenotype, treatment, and prognosis of three children with ASPS from The Second Xiangya Hospital of Central South University, and 51 children with ASPS have been reported in the previous literature, along with a focused review of the clinical features, pathological features, differential diagnosis, treatment, and prognosis of ASPS in pediatric patients.
Alveolar soft part sarcoma (ASPS) is a potentially lethal soft tissue tumor with a xropensity for distant metastasis. We report an exceedingly rare case of an ASPS arising from the pectoralis major in a young woman, with initial clinical findings mimicking a breast mass. We present the radiographic, immunohistochemical, and molecular workup leading to the correct diagnosis, with review of the differential diagnosis.
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 2012-2020, 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.
