Alveolar soft part sarcoma metastatic to the breast: a case report

Abstract

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.

Primary Alveolar Soft Part Sarcoma of Cheek: Report of a Case and Review of the Literature

“…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].…”

“…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].…”

Computed tomography, magnetic resonance imaging, and F-deoxyglucose positron emission computed tomography/computed tomography findings of alveolar soft part sarcoma with calcification in the thigh: A case report

“…ASPS often develops in the lower extremities for adults; however, the head and neck are more frequently involved in children[ 4 - 6 ]. The prognosis of ASPS depends on the presence of metastasis, tumor size, and patient age at the time of diagnosis[ 7 , 8 ]. In the present case, the patient had lung and brain metastasis in the follow-up period and also poor prognosis.…”

“…The most common locations of ASPS are the lower extremities, head, and neck[ 4 - 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 ].…”