胞巣状軟部肉腫

固形腫瘍 [DS:H02421]
軟部肉腫 [DS:H02427]

Alveolar soft part sarcoma (ASPS) is a rare, histologically distinctive soft-tissue sarcoma typically occurring in children and young adults. Although it displays a relatively indolent clinical course, the ultimate prognosis is poor and is often characterised by late metastases. ASPS is characterised by an unbalanced translocation: der(17)t(X:17)(p11;q25). This translocation causes the fusion of the TEF3 (transcription factor binding to IGHM enhancer 3) with a novel gene at 17q25, named ASPL. Translocation between chromosomes X and 17 is seen in all the tested cases, implicating transcriptional deregulation in the pathogenesis of this tumor.

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ASPL-TFE3 (translocation) [HSA:7030] [KO:K09105]

ICD-O: 9581/3, Tumor type: Alveolar soft part sarcoma

PMID:17516754

Zarrin-Khameh N, Kaye KS

Alveolar soft part sarcoma.

Arch Pathol Lab Med 131:488-91 (2007)
DOI:10.1043/1543-2165(2007)131[488:ASPS]2.0.CO;2

PMID:12951587 (gene, tumor type)

Helman LJ, Meltzer P.

Mechanisms of sarcoma development.

Nat Rev Cancer 3:685-94 (2003)
DOI:10.1038/nrc1168

PMID:11378650

Letson GD, Muro-Cacho CA.

Genetic and molecular abnormalities in tumors of the bone and soft tissues.

Cancer Control 8:239-51 (2001)
DOI:10.1177/107327480100800304

PMID:17071801 (gene, marker)

Folpe AL, Deyrup AT.

Alveolar soft-part sarcoma: a review and update.

J Clin Pathol 59:1127-32 (2006)
DOI:10.1136/jcp.2005.031120

PMID:12766578 (marker)

Argani P, Lal P, Hutchinson B, Lui MY, Reuter VE, Ladanyi M.

Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay.

Am J Surg Pathol 27:750-61 (2003)
DOI:10.1097/00000478-200306000-00005