Alveolar soft part sarcoma in children: a clinicopathological study of 13 cases / 中华病理学杂志

Objective@#To investigate the clinicopathological manifestations, molecular genetic, diagnostic histology and differential diagnosis of alveolar soft part sarcoma (ASPS) in children.@*Methods@#A total of 13 cases of ASPS diagnosed at Beijing Children′s Hospital from August 2009 to November 2018 were collected. HE staining, histochemical staining for PAS and D-PAS, immunohistochemical (IHC) staining for TFE3, INI1 and CD68 and florescence in situ hybridization (FISH) for TFE3 gene translocation were performed.@*Results@#There were four males and nine females, age ranged from 1 year and 2 months to 13 years and 8 months (mean 7.8 years); and four patients were under 5 years old. Histologically, the tumors showed a distinctive and characteristic nested or organoid growth pattern (11 cases) or solid, diffuse growth (2 cases). The tumor cells possessed abundant eosinophilic, or glycogen-rich and clear to vacuolated cytoplasm. The chromatin was relatively dispersed, with prominent and pleomorphic nucleoli; mitotic figures were rare. Vascular invasion was frequently seen. IHC staining showed specific nuclear TFE3 staining. The tumor cells were also positive for INI1,CD68 and vimentin; but were negative for MyoD1, Myogenin, CK and S-100 protein. Seven cases showed PAS and D-PAS staining, with fuchsia acicular or rod-shaped crystals in tumor cytoplasm. Nine cases showed TFE3 break-apart signals by FISH.@*Conclusions@#ASPS is a rare soft tissue sarcoma in children. Compared with ASPA in adults, it has both similarities and unique clinicopathologic characteristics. The diagnosis needs to be confirmed by combining clinical, pathologic, IHC and genetic testing.

Alveolar soft part sarcoma in children: a clinicopathological study of 13 cases / 中华病理学杂志

To investigate the clinicopathological manifestations, molecular genetic, diagnostic histology and differential diagnosis of alveolar soft part sarcoma (ASPS) in children. A total of 13 cases of ASPS diagnosed at Beijing Children's Hospital from August 2009 to November 2018 were collected. HE staining, histochemical staining for PAS and D-PAS, immunohistochemical (IHC) staining for TFE3, INI1 and CD68 and florescence in situ hybridization (FISH) for TFE3 gene translocation were performed. There were four males and nine females, age ranged from 1 year and 2 months to 13 years and 8 months (mean 7.8 years); and four patients were under 5 years old. Histologically, the tumors showed a distinctive and characteristic nested or organoid growth pattern (11 cases) or solid, diffuse growth (2 cases). The tumor cells possessed abundant eosinophilic, or glycogen-rich and clear to vacuolated cytoplasm. The chromatin was relatively dispersed, with prominent and pleomorphic nucleoli; mitotic figures were rare. Vascular invasion was frequently seen. IHC staining showed specific nuclear TFE3 staining. The tumor cells were also positive for INI1,CD68 and vimentin; but were negative for MyoD1, Myogenin, CK and S-100 protein. Seven cases showed PAS and D-PAS staining, with fuchsia acicular or rod-shaped crystals in tumor cytoplasm. Nine cases showed TFE3 break-apart signals by FISH. ASPS is a rare soft tissue sarcoma in children. Compared with ASPA in adults, it has both similarities and unique clinicopathologic characteristics. The diagnosis needs to be confirmed by combining clinical, pathologic, IHC and genetic testing.

Retrospective research of prognosis factors involved surgical treatment for alveolar soft part sarcoma / 中华骨科杂志

Objective To explore clinical characteristics of alveolar soft part sarcoma(ASPS) and prognosis factors related to surgical treatment.Methods This study retrospectively analyzed 29 ASPS consecutive cases between Sep.1982 to Sep.2010,including 18 males and 11 females,with average 24.4 and median 21 years old (ranging 9 to 58).26 patients with surgery were enrolled in this study,with 23 cases primarily ocurred in soft tissue and 3 cases in bone.There were 17 cases with painless mass (65.4％,17/26) and 9 cases with pain (36.4％,9/26).Demographics,tumor size,stage,surgical margin,adjuvant chemotherapy provided,local recurrence,metastatic rate and overall survival probability were evaluated.We used multivariate analysis of logistic regression and Cox regression for local recurrence and survival rate respectively,and univariate analysis for tumor size,surgical margin,adjuvant chemotherapy and local recurrence.Results According to the Enneking classification,we distinguished stage Ⅱ 14 cases and stage Ⅲ 12 cases.Marginal excision was obtained in 9 cases as well as wide resection in 17 patients.The average and median follow-up time was 45.9 and 31 months (ranging 5 to 226) respectively,12 cases eventually survived (46.2％).The 5-year survival rates for stage Ⅱ and Ⅲ cases were 79.5％ and 23.4％ respectively.We found significant difference for local recurrence with surgical margin.However,there was no significant difference for prevention of metastatic progression with or without adjuvant chemotherapy.For tumor size,5-year survival rate of ＞ 5 cm and ＜ 5 cm group were 40.7％ and 80.0％ respectively.Multivariate analysis of logistic regression showed the surgical marginal was the only significant risk factor for local recurrence,while Cox regression showed both stage and tumor size were independent prognostic indicators for survival.Conclusion Although presenting as a slowly growing and painless mass,ASPS is an aggressive tumor with high risk of metastasis.Prognosis of ASPS is basically related to the characteristics of tumor size,surgical stage and quality of surgery.With limited improvement of adjuvant chemotherapy for metastasis control and survival,new agents are eagerly needed to complement surgery to eradicate this disease.

Alveolar Soft Part Sarcoma of the Uterine Cervix: A Case Report and Review of the Literature

Alveolar soft part sarcoma (ASPS) of the uterine cervix is a rare malignancy, and 21 cases have been reported the literature from every language (including our case). Herein, we describe a 17-yearold female patient who presented with active vaginal bleeding. Pelvic examination revealed a 1.6 x1.0x0.5-cm-sized soft mass protruding from the uterine cervix. The final pathological diagnosis was ASPS of the uterine cervix. Immunohistochemically, tumor cells were strongly nuclear positive for transcription factor E3. The patient remained disease free for 24 months without adjuvant therapy. The prognosis of ASPS in the cervix is considerably better than that of ASPS in soft tissues due to early clinical detection, small size, and resectability. ASPS should be considered in the differential diagnosis of an unusual epithelioid neoplasm showing organoid appearance with mild cytologic atypia and no/rare mitotic figures, particularly in young women. Pathologists should be aware of those unusual locations where ASPS may originate.

Imaging features and pathological findings of alveolar soft part sarcoma / 中华放射学杂志

Objective To explore the correlation between imaging features and pathological findings of alveolar soft part sarcoma (ASPS).Methods The clinical data,radiographic images and pathological characteristics of seven patients with histopathologically proved ASPS from 2003 to 2009 were retrospectively reviewed.Digital radiography (DR),plain CT,pre and post-contrast MR and DSA were performed in all patients.HE staining and periodic acid-Schiff (PAS) staining were used in pathological examination and CD34 were marked in immunehistochemical study.Results All patients were females.Their age ranged from 16 to 37 years with median of 24 years.Two tumors were located in pelvics,three were located in thighs,and two were located in legs.DR and CT plain scan features of ASPS were non-specific.MR demonstrated the tumors with large diameter and well defined margin locating in the deep tissues.Tumors were hyperintense on T2-weighted and T1-weighted images with many flow void vessels and persistent remarkable enhancement.There were numerous vessels with arteriovenous fistula on DSA.Pathological examination revealed solid nests of several polygonal tumor cells arranged in an alveolar pattern and separated by thinwalled,sinusoidal vascular channels.Tumor cell were noted on periodic acid-Schiff (PAS) stains.And the endothelial cells of sinusoidal vascular channels were positive on CD34.Conclusions As a malignant tumor which predominantly developed in deep location of trunk or extremities in young females,numerous void signal and hyperintensity on T1-weighted were the features of ASPS on MR.Numerous vessels could also be confirmed on DSA.These image findings were correlated closely with the pathological manifestations.

Clinical analysis of twenty-eight patients with alveolar soft part sarcoma / 中国医师进修杂志

Objective To study the clinical features of alveolar soft part sarcoma (ASPS) and assess its prognostic factors.Methods The clinical data of 28 ASPS patients from January 2006 to January 2009 were analyzed retropectively,and were followed up to get their prognosis.The survival analysis and risk factors were analyzed and compared.Results Two cases with soft tissue primary ASPS got recurrence after the first resection,the recurrence rate was 8.0％ (2/25).After re-resection,no postoperative recurrence occurred.Three cases with bone primary ASPS did not have postoperative local tumor recurrence,but 2 cases appeared tumor progression and got pulmonary metastasis.All the patients had poor overall prognosis,11 cases survived without tumor,8 cases survived with tumor,9 cases died.The median survival time was 38.5 months,5-year survival rate was 46.4％ (13/28),5-yeax survival rate of male patients was 50.0％ (5/10),female patients was 44.4％(8/18),5-year survival rate between male and female patients had no statistical significance (P =0.260).The 5-year survival rate of patients without distant metastasis was 81.8％ (9/11),while the rate of patients with distant metastasis (pulmonary,brain or bone metastasis) was only 23.5％(4/17),and the rates had significant difference (P =0.036).Age,gender had no significant relation with the prognosis,while tumor size,location and distant metastasis were the important factors affecting the prognosis.Conclusions ASPS commonly occurs in young persons.The hips and thighs are the most common sites ofsofte tissue primary ASPS.Prognosis has relation with distant metastasis,tumor size and part or thorough resection.The risk of recurrency and metastasis can be decreased through assessing disease condition as soon as possible,developing a reasonable treatment plan and wide resection of the primary tumor.

Cytologic Findings of Alveolar Soft Part Sarcoma Presenting with Multiple Pulmonary Masses: A Case Report with Review of Literature

Alveolar soft part sarcoma (ASPS) is a rare malignant soft tissue tumor of uncertain origin, and it has a strong propensity for metastasis to the lungs, bones and brain. We report upon an unusual case of ASPS, presenting as multiple lung nodules with no other detectable primary site, in a 44-year-old man. A fine needle aspiration of the nodules yielded scattered, discohesive cells, each containing an eccentrically displaced nucleus and prominent nucleolus, on a granular background. Tumor cells with numerous bared nuclei, and occasional sheets of epithelioid cells were also found. Under the cytological diagnosis of an unclassified epithelioid malignant tumor, resection of the lung nodules was performed. The histologic findings were consistent with ASPS, showing positive TFE3-nuclear immunoreactivity. There is limited literature concerning cytological findings associated with pulmonary ASPS: especially in cases where the primary site is unknown. Here, we present a cytological review of pulmonary ASPS, investigating the significance of TFE3 staining in the diagnosis of ASPS.

Primary Alveolar Soft Part Sarcoma of the Lung

Alveolar soft part sarcoma (ASPS) is a rare epithelial-like soft tissue sarcoma. The two main sites of its occurrence are the lower extremities in adults and the head and neck in children. Primary pulmonary involvement of this sarcoma, without evidence of soft tissue tumor elsewhere, is very exceptional. We present a case of primary ASPS of the lung in a 42-yr-old woman. A computed tomographic scan of the thorax demonstrated a well-circumscribed, solid tumor located in the right upper lobe. The mass was resected by right upper lobectomy. After 5 months, three metastatic lesions, involving lumbar vertebrae and occipital scalp, were found. Histologically, the tumor consisted of alveolar nests of large polygonal tumor cells, the cytoplasm of which frequently revealed periodic acid-Schiff-positive, diastase-resistant intracytoplasmic rod-like structures. On immunohistochemical staining, the tumor cells were positive only for vimentin and alpha-smooth muscle actin. Ultrastuctural study using electron microscopy revealed characteristic electron-dense, rhomboid intracytoplasmic crystals.

Bilateral Mammary Metastasis of Alveolar Soft Part Sarcoma: A Case Report

An alveolar soft part sarcoma(ASPS) is a rare malignant soft tissue tumor, which metastasizes to the lung, bone and brain. Recently, we encountered an unusual case of a metastatic ASPS to the bilateral breasts in a 27-year-old woman. She had undergone surgery for an ASPS in her right thigh two years ago, which metastasized to the breast on three occasions, 15 months, 20 months and two years after surgery.