Exploring the Histogenesis and Diagnostic Strategy Using Immunoassay and RT-PCR in Alveolar Soft Part Sarcoma
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Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma, but it’s easily misdiagnosed in rare locations. The derivation of ASPS is still uncertain, therefore we conducted this study to explore the histogenesis of ASPS by analyzing stem cell markers (ALDH1, CD29, CD133 and Nestin). Protein TFE3 and fusion gene ASPS-TFE3 were tested in paraffin to explore diagnostic strategy and molecular pathological features. In this study, nine cases of ASPS were immunostained with stem cell surface markers (ALDH1, CD29, CD133 and Nestin) and protein TFE3. Seven cases of ASPS mRNA were successfully extracted from nine paraffin-embedded tissues. The expression of fusion gene ASPL-TFE3 was examined by reverse transcriptase-polymerase chain reaction. The immunohistochemical staining of nine patients showed that CD29 and Nestin were negative in all nine cases (0/9). CD133 was weakly positive in one cases (1/9) and ALDH1 was weakly positive in one cases (1/9). TFE3 was positive in nine cases (9/9). Seven paraffin tissues could be successfully extracted with mRNA in nine cases. The results of Reverse Transcription Polymerase Chain Reaction (RT-PCR) showed that ASPL-TFE3 fusion transcripts could be tested in the seven cases (four cases being type 2 and three cases being type 1). The positive rate of CD133 and ALDH1 were less than 1% and the expression of CD29 and Nestin were negative in ASPS. Immunohistochemistry results indicated that the histogenesis of ASPS maybe not derive from mesenchymal stem cells. Immunohistochemistry staining showed that TFE3 protein expression was highly sensitive in ASPS. Furthermore, RT-PCR results showed that fusion gene ASPL-TFE3 (ASPL-TFE3 type 1 and ASPL-TFE3 type 2) was expressed in ASPS, which could provide information for clinical molecular pathological diagnosis and improve the diagnosis rate of rare atypical ASPS.
KeywordsAlveolar soft part sarcoma Stem cell markers Immunohistochemistry Fusion gene
The authors would like to thank the Key Laboratory of Xinjiang Endemic and Ethnic Diseases (Ministry of Education), Shihezi University School of Medicine for assistance with this work. This work was supported by National Natural Science Foundation of China (No. 81560053), the Corps Doctor Foundation (No. 2014BB018), One Thousand Youth Talents Plan, the Pairing Program of Shihezi University with Eminent Scholar in Elite University (No. SDJDZ201508).
Compliance with Ethical Standards
The authors have declared that no competing interests exist.
- 3.Cykowski MD, Hicks J, Sandberg DI, Olar A, Bridge JA, Greipp PT, Navarro P, Kolodziej S, Bhattacharjee MB (2015) Brain metastasis of crystal-deficient, CD68-positive alveolar soft part sarcoma: ultrastructural features and differential diagnosis. Ultrastruct Pathol 39:69–77CrossRefPubMedGoogle Scholar
- 18.Kobos R, Nagai M, Tsuda M, Merl MY, Saito T, Lae M, Mo Q, Olshen A, Lianoglou S, Leslie C, Ostrovnaya I, Antczak C, Djaballah H, Ladanyi M (2013) Combining integrated genomics and functional genomics to dissect the biology of a cancer-associated, aberrant transcription factor, the ASPSCR1-TFE3 fusion oncoprotein. J Pathol 229:743–754CrossRefPubMedPubMedCentralGoogle Scholar
- 22.Tsuji K, Ishikawa Y, Imamura T (2012) Technique for differentiating alveolar soft part sarcoma from other tumors in paraffin-embedded tissue: comparison of immunohistochemistry for TFE3 and CD147 and of reverse transcription polymerase chain reaction for ASPSCR1-TFE3 fusion transcript. Hum Pathol 43:356–363CrossRefPubMedGoogle Scholar
- 23.Pang LJ, Chang B, Zou H, Qi Y, Jiang JF, Li HA, Hu WH, Chen YZ, Liu CX, Zhang WJ, Li F (2008) Alveolar soft part sarcoma: a bimarker diagnostic strategy using TFE3 immunoassay and ASPL-TFE3 fusion transcripts in paraffin-embedded tumor tissues. Diagn Mol Pathol 17:245–252CrossRefPubMedGoogle Scholar
- 31.Tornoczky T, Kalman E, Sapi Z, Orosz Z, Pajor L (2001) Cytogenetic abnormalities of alveolar soft-part sarcomas using interphase fluorescent in situ hybridization: trisomy for chromosome 7 and monosomy for chromosomes 8 and 18 seem to be characteristic of the tumor. Virchows Arch 438:173–180CrossRefPubMedGoogle Scholar