96893-3

ERBB2 gene duplication in Tumor by FISH

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Term Description

Gene duplication analysis of the ERBB2 gene by FISH studies is performed to guide therapy for patients with primary or metastatic breast tumors. Patients with ERBB2 gene amplification leading to overexpression of the human epidermal growth factor receptor 2 (HER2) protein may be candidates for therapies, such as trastuzumab and pertuzumab, that target HER2. Testing may also be performed to confirm the presence of HER2 amplification in cases with 2+ (low level) or 3+ (high level) HER2 protein overexpression by immunohistochemistry, as well as for certain histologic subtypes with aberrant patterns of HER2 expression seen by immunohistochemistry. The collection of information contained by this term may include the overall result (positive/negative), copy numbers and ratio of HER2 to CEP17, the interpretation, recommendations, and references. For associated observations (result codes) related to this test, see the ERBB2 gene duplication associated observations panel [LOINC: 74885-5].
Source: Regenstrief LOINC

Part Descriptions

LP36215-9 ERBB2 gene
The ERBB2 gene (erb-b2 receptor tyrosine kinase 2) [HGNC Gene ID:3430] is located on chromosome 17q12. This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2064] Source: National Center for Biotechnology Information (NCBI) Gene

LP422046-5 ERBB2 gene duplication
The ERBB2 (erb-b2 receptor tyrosine kinase 2) gene is an oncogene that encodes the HER-2 (human epidermal growth factor receptor 2) receptor, commonly called HER2/neu. HER-2 is a member of the human epidermal growth factor receptor (EGFR) family. Amplification (gene duplication) leading to over-expression of this oncogene is associated with various types of aggressive cancers, including breast and gastric cancers. Detection of gene amplification in tumor specimens by fluorescent in situ hybridization (FISH) is considered the gold standard for HER-2 testing. PMID: 19204209 Source: Regenstrief LOINC

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: ERBB2 gene duplication
Property: Find
Time: Pt
System: Tumor
Scale: Doc
Method: FISH

Additional Names

Short Name: ERBB2 gene Dp Tumor FISH
Display Name: ERBB2 gene dup FISH Doc (Tumor)
Consumer Name Alpha Get Info: ERBB2 gene duplication analysis, Tumor

Associated Observations

74885-5 ERBB2 gene (HER2) duplication associated observations panel - Tissue by FISH

This panel includes result codes commonly reported as part of a HER2 (ERBB2 gene) amplification in situ hybridization (e.g. FISH) study. The intention of this panel is to provide users with the associated LOINC codes. For LOINC mapping to the order and overall report of a HER2 amplification FISH study, use the ERBB2 gene duplication term [LOINC: 96893-3].

LOINC	Name	Example UCUM Units
74885-5	ERBB2 gene (HER2) duplication associated observations panel - Tissue by FISH
Indent31150-6	ERBB2 gene duplication [Presence] in Tissue by FISH
Indent49683-6	ERBB2 gene copy number/Chromosome 17 copy number in Tissue by FISH
Indent74860-8	ERBB2 gene copy number/nucleus in Tissue by FISH	{#}
Indent74861-6	Chromosome 17 copy number/nucleus in Tissue by FISH	{#}
Indent62361-1	Cells counted [#]	{#}
Indent19147-8	Referral lab test reference range

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.70
Last Updated: Version 2.70
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Gen ERBB2 Duplicación:Hallazgo:Punto temporal:Tumor:Doc:Hibridación in situ fluoresente (FISH)
es-MX	Spanish (Mexico)	Duplicación del gen ERBB2:Encontrar:Punto temporal:Tumor:Documento:PEZ
fr-FR	French (France)	ERBB2 gène duplication:Recherche:Ponctuel:Tumeur:Document:FISH
it-IT	Italian (Italy)	ERBB2, gene, duplicazione:Osservazione:Pt:Tumore:Doc:FISH Synonyms: Gene ERBB2 Ibridazione in situ fluorescente (FISH) Neoplasia Osservazione Patologia molecolare Punto nel tempo (episodio)
nl-NL	Dutch (Netherlands)	ERBB2-gen duplicatie:bevinding:moment:tumor:document:FISH Synonyms: ERBB2 gen
tr-TR	Turkish (Turkey)	ERBB2 geni dublikasyon:Bulgu:Zmlı:Tümör:Dokm:FISH Synonyms: çiftleme
zh-CN	Chinese (China)	ERBB2 基因复制:发现:时间点:肿瘤:文档型:FISH Synonyms: c-erb B2;Her2;HER-2/neu;NGL;TKR1;V-ERB-B2 禽类成红血细胞性白血病病毒性致癌基因同源基因 2 (神经/恶性胶质瘤源性癌基因同源基因);V-ERB-B2 禽类成红血细胞性白血病病毒性致癌基因同源基因 2 (神经/恶性胶质瘤源性致癌基因同源基因);V-ERB-B2 禽类成红血细胞性白血病病毒性致癌基因同源基因 2 (神经/成胶质细胞瘤源性癌基因同源基因);V-ERB-B2 禽类成红血细胞性白血病病毒性致癌基因同源基因 2 (神经/成胶质细胞瘤源性致癌基因同源基因);V- Fluorescent in situ hybridization;荧光原位杂交临床文档型;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;结论基因复制;基因重复;重复时刻;随机;随意;瞬间瘤;肿块;赘生物遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=96893-3

LOINC Copyright

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.