Alveolar Soft Part Sarcoma.

Abstract

Alveolar soft part sarcoma is a rare neoplasm usually arising in the soft tissues of the lower limbs in adults and in the head and neck region in children. It presents primarily as a slowly growing mass or as metastatic disease. It is characterized by a specific chromosomal alteration, der(17)t(X:17)(p11:q25), resulting in fusion of the transcription factor E3 (TFE3) with alveolar soft part sarcoma critical region 1 (ASPSCR1) at 17q25. This translocation is diagnostically useful because the tumor nuclei are positive for TFE3 by immunohistochemistry. Real-time polymerase chain reaction to detect the ASPSCR1-TFE3 fusion transcript on paraffin-embedded tissue blocks has been shown to be more sensitive and specific than detection of TFE3 by immunohistochemical stain. Cathepsin K is a relatively recent immunohistochemical stain that can aid in the diagnosis. The recent discovery of the role of the ASPSCR1-TFE3 fusion protein in the MET proto-oncogene signaling pathway promoting angiogenesis and cell proliferation offers a promising targeted molecular therapy.

• Authors: Omar I Jaber, Patricia A Kirby
• Journal: Archives of pathology & laboratory medicine (Arch Pathol Lab Med) Vol. 139 Issue 11 Pg. 1459-62 (Nov 2015) ISSN: 1543-2165 [Electronic] United States
• PMID: 26516944 (Publication Type: Journal Article, Review)

Chemical References

• ASPSCR1 protein, human
• Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
• Intracellular Signaling Peptides and Proteins
• MAS1 protein, human
• Oncogene Proteins, Fusion
• Proto-Oncogene Mas
• TFE3 protein, human

Topics

• Adult
• Basic Helix-Loop-Helix Leucine Zipper Transcription Factors (genetics, metabolism)
• Child
• Chromosomes, Human, Pair 17 (genetics)
• Chromosomes, Human, X (genetics)
• Humans
• Intracellular Signaling Peptides and Proteins
• Oncogene Proteins, Fusion (genetics, metabolism)
• Proto-Oncogene Mas
• Sarcoma, Alveolar Soft Part (genetics, metabolism, pathology)
• Translocation, Genetic