2015
DOI: 10.5858/arpa.2014-0385-rs
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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 po… Show more

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Cited by 74 publications
(60 citation statements)
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References 28 publications
(34 reference statements)
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“…They cover an extensive range of morphological differentiation patterns. Current diagnostic methods include basic analytical processes such as standard histological staining, as well as more elaborate techniques such as immunostaining and molecular genetics, which include fluorescent in situ hybridization for the detection of gene amplification and rearrangements and RT-PCR for the detection of characteristic or specific gene fusions (Antonescu, 2006;Jaber and Kirby, 2015). Although these tests are limited by the fact that they cannot be multiplexed, they are adapted to and widely used in routine clinical practice especially for sarcomas presenting a specific line of differentiation.…”
Section: Significancementioning
confidence: 99%
“…They cover an extensive range of morphological differentiation patterns. Current diagnostic methods include basic analytical processes such as standard histological staining, as well as more elaborate techniques such as immunostaining and molecular genetics, which include fluorescent in situ hybridization for the detection of gene amplification and rearrangements and RT-PCR for the detection of characteristic or specific gene fusions (Antonescu, 2006;Jaber and Kirby, 2015). Although these tests are limited by the fact that they cannot be multiplexed, they are adapted to and widely used in routine clinical practice especially for sarcomas presenting a specific line of differentiation.…”
Section: Significancementioning
confidence: 99%
“…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. [16] ASPS and granular cell tumor are typically distinctive on histology, but occasional cases show a significant morphologic overlap. Differentiating them is important because granular cell tumor is almost always benign and ASPS is invariably malignant.…”
Section: Discussionmentioning
confidence: 99%
“…This case represents a 25 year old female with a history of multiply relapsed, metastatic alveolar soft part sarcoma (ASPS). ASPS is a rare sarcoma subtype comprising 0.2-0.9% of all soft tissue sarcomas [11]. ASPS is extremely rare in childhood, and is more commonly diagnosed in adolescence and young adulthood (15-35 years of age) [7].…”
Section: Discussionmentioning
confidence: 99%