Sarcoma alveolar soft part

ELMS, epithelioid leiomyosarcoma ASPS, alveolar soft part sarcoma HMFH, histiocytic malignant fibrous histiocytoma EOS, epithelioid osteosarcoma. 

Controversy has existed over the line of cellular differentiation in alveolar soft part sarcoma (ASPS) ever since its seminal description in 1952. Despite attempts to prove a neuroectodermal or endocrine nature for this tumor, more recent studies have endorsed a myogenous phenotype. 

Mukai M, Torikata G, Iri H, et al. Histogenesis of alveolar soft-part sarcoma An immunohistochemical and biochemical study. Am J Surg Pathol. 1986 10 212-218. 

Miettinen M, Ekfors T. Alveolar soft part sarcoma Immunohistochemical evidence for muscle cell differentiation. Am J Clin Pathol. 1990 93 32-38. 

Foschini MP, Ceccarelli C, Eusebi V, et al. Alveolar soft-part sarcoma Immunological evidence of rhabdomyoblastic differentiation. Histopathology. 1988 13 101-108. 

Foschini MP, Eusein V. Alveolar soft part sarcoma A new type of rhabdomyosarcoma Semin Diagn Pathol. 1994 4 58-68. 

Hirose T, Kudo E, Hasaegawa T, et al. Cytoskeletal properties of alveolar soft part sarcoma. Hum Pathol. 1990 21 204-211. 

Menesce LP, Eyden BP, Edmondson D, et al. Immunophenotype and ultrastructure of alveolar soft part sarcoma. J Submicrosc Cytol Pathol. 1993 2593 377-387. 

Rosai J, Dias P, Parham DM, et al. MyoDl protein expression in alveolar soft part sarcoma as confirmatory evidence of its skeletal muscle nature. Am J Surg Pathol. 1991 15 974-981. 

Nakano H, Tateishi A, Imamura T, et al. RT-PCR su ests human skeletal muscle origin of alveolar soft part sarcoma. Oncology. 2000 58 319-323. 

Ordonez NG, Mackay B. Alveolar soft-part sarcoma A review of the pathology and histogenesis. Ultrastruct Pathol. 1998 22 275-292. 

Alveolar soft part sarcoma Young adults— often females. Deep soft tissue. Lung metastases common. Large polygonal cells, granular cytoplasm, prominent nucleoli, rare mitoses PASD+, TFE3+ Membrane bound rhomboidal crystals by electron microscopy (EM) RT-PCR for ASPL-TFE3... 

Pre-B-ALL, AML (M7), alveolar soft part sarcoma, congenital and infantile fibrosarcoma, inflammatory fibrous polyp of GIT, breast fibroadenoma, giant cell fibroblastoma, juxtaglomerular cell tumor, superficial acral fibromyxoma... 

Desmoplastic small round cell tumor, alveolar soft part sarcoma, tenosynovial giant-cell tumor... 

Molecular Detection of Alveolar Soft Part Sarcoma... 

An important and characteristic feature that distinct alveolar soft part sarcoma from other tumors are specific non-random cytogenetic abnormalities. The most common and specificgenetic abnormality associated with this tumorinvolvesthechromosomes X and 17 generating the t(X 17)(pll.2 q25) translocation. Other chromosomal abnormalities such as trisomy of the chromosomes 8 and 12 in addition to structural abnormalities in the chromosomes 1,8q and 16p are also reported in association with this tumor. 

As the t(X 17)(pll.2 q25) translocation was not detected in any other soft tissue tumor, the molecular detection of the specific fusion transcripts can be used as an additional diagnostic assay to confirm the diagnosis of alveolar soft part sarcoma, however we have to consider that similar genetic abnormalities may be associated primary and metastatic papillary renal cell carcinoma. 

Ladanyi, M., Lui, M.L., Antonescu, C.R.etoL (2001) The der(17)t(X 17)(pll q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Oncogene, 20, 48-57. 

Argani, P., Antonescu, C.R., Illei, P.B. et al. (2001) Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma. Am J Pathol, 159, 179-192. 

Ordonez, N.G. (1999) Alveolar soft part sarcoma a review and update. Adv Anatom Pathol, 6, 125-139. 

Sandberg, A.A., Bridge, J.A. (2002) Updates on the cytogenetics and molecular genetics of hone and soft tissue tumors alveolar soft part sarcoma. Cancer Genet Cytogenet, 136, 1-9. 

Huang, H.Y., Lui, M.Y., Ladanyi, M. (2005) Nonrandom cell-cycle timing of a somatic chromosomal translocation t(X 17) of alveolar soft part sarcoma occurs in G2. Genes Chromosomes Cancer, 44, 170—176. 

Aulmann, S., Longerich.T, Schirmacher, P. et al. (2007) Detection of the ASPSCRl-TFE3 gene fusion in paraffin-embedded alveolar soft part sarcomas. Histopathology, 50, 881-886. 

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