| H00051 | |
| H番号 | H00051 |
| 名称 | 胞巣状軟部肉腫 |
| 概要 | 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 TFE3 (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. |
| カテゴリ | がん |
| ネットワーク | - |
| 病因遺伝子 | ASPSCR1-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 2B5K ICD-10: C49 MeSH: D018234 OMIM: 606243 |
| 文献 | PMID:17516754 著者 Zarrin-Khameh N, Kaye KS タイトル Alveolar soft part sarcoma. 雑誌 Arch Pathol Lab Med 131:488-91 (2007) DOI:10.1043/1543-2165(2007)131[488:ASPS]2.0.CO;2 PMID:12951587 著者 Helman LJ, Meltzer P. タイトル Mechanisms of sarcoma development. 雑誌 Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 PMID:11378650 著者 Letson GD, Muro-Cacho CA. タイトル Genetic and molecular abnormalities in tumors of the bone and soft tissues. 雑誌 Cancer Control 8:239-51 (2001) DOI:10.1177/107327480100800304 PMID:17071801 著者 Folpe AL, Deyrup AT. タイトル Alveolar soft-part sarcoma: a review and update. 雑誌 J Clin Pathol 59:1127-32 (2006) DOI:10.1136/jcp.2005.031120 PMID:12766578 (TFE3) 著者 Argani P, Lal P, Hutchinson B, Lui MY, Reuter VE, Ladanyi M. タイトル Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. 雑誌 Am J Surg Pathol 27:750-61 (2003) DOI:10.1097/00000478-200306000-00005 PMID:30744536 (ASPSCR1-TFE3) 著者 Ruffle A, Cameron M, Jonas N, Levine S, Mills C, Hook CE, Murray MJ タイトル Lingual Alveolar Soft Part Sarcoma in a 1-Year-Old Infant: Youngest Reported Case With Characteristic ASPSCR1-TFE3 Fusion. 雑誌 Pediatr Dev Pathol 22:391-395 (2019) DOI:10.1177/1093526619830290 |