Version 2.78

Term Description

The detection of rearrangements involving the TFE3 (transcription factor E3) gene by FISH. A positive result suggests a rearrangement of the TFE3 gene region at Xp11.23 and supports the diagnosis of alveolar soft-part sarcoma (ASPS) or renal cell carcinoma (RCC) variant when combined with an anatomic pathology consultation.
Source: Regenstrief LOINC

Part Descriptions

LP420082-2   TFE3 gene rearrangements
The TFE3 (transcription factor binding to IGHM enhancer 3) gene [HGNC Gene ID: 1752] is located on chromosome X at position p11.23. This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013][NCBI Gene ID: 7030] Source: NCBI PubMed

LP62864-1   FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, FISH

Fully-Specified Name

Component
TFE3 gene rearrangements
Property
Find
Time
Pt
System
Tiss
Scale
Doc
Method
FISH

Additional Names

Short Name
TFE3 rearrange Tiss FISH
Display Name
TFE3 gene rearrangements FISH Doc (Tiss)
Consumer Name Alpha Get Info
TFE3 gene rearrangements, Tissue

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.69
Last Updated
Version 2.69
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Reordenamientos del gen TFE3:Hallazgo:Punto temporal:Tejido:Doc:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Reordenamientos del gen TFE3:Hallazgo:Punto temporal:Tejido y frotis:Documento:Hibridación fluorescente in situ (FISH)
fr-FR French (France) TFE3 gène réarrangements:Recherche:Ponctuel:Tissu:Document:FISH
it-IT Italian (Italy) TFE3, gene riarrangiamenti:Osservazione:Pt:Tessuto:Doc:FISH
Synonyms: Ibridazione in situ fluorescente (FISH) Osservazione Patologia molecolare Punto nel tempo (episodio) Tessuto & Strisci
nl-NL Dutch (Netherlands) TFE3-genherschikking:bevinding:moment:weefsel en uitstrijkjes:document:FISH
Synonyms: TFE3-gentranslocaties
zh-CN Chinese (China) TFE3 基因重排:发现:时间点:组织与涂片:文档型:FISH
Synonyms: Fluorescent in situ hybridization;荧光原位杂交 TFE3 基因重排（重组） 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 分子病理学;分子病理学试验 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=95779-5