Version 2.78

Term Description

Malignant melanoma often exhibits abnormal copy number of certain chromosomal regions. The assessment of gains and losses in 6p25, 6q23 11q, 8q24 and 9p21 by fluorescent in situ hybridization (FISH) has been found to be helpful in distinguishing benign from malignant melanocytic lesions. This term was created for the submitter's assay which uses three commercially available probes sets: RREB1/D6Z1/MYB/CCND1 (assessing chromosomes 6 and 11), CDKN2A/D9Z1 (assessing chromosome 9p), and D8Z2/MYC (assessing chromosome 8q). The chromosomal abnormalities in melanoma can be varied, so the combined assay has been found to have a better chance to aid in diagnosis. The findings have some mechanistic implications, with tumor suppressor genes on 9p and oncogene (MYC) on 8q.
Source: Regenstrief LOINC

Part Descriptions

LP172849-4   6p25 & 6q23 & 11q & 8q24 & 9p21 chromosome partial aneuploidy
Mutations in RREB1, CDKN2A, and D8Z2 genes are associated with malignant melanocytic lesions arising in the skin. While many lesions can be easily classified as benign nevi or malignant melanoma based on histologic features alone, a significant subset of lesions require additional testing to determine their status. Because the course of treatment for malignant melanoma relative to benign lesions varies significantly from the time of diagnosis, accuracy and expediency of the diagnosis are necessary. Gene mutation analysis for RREB1, CDKN2A, and D8Z2 genes aid in the differentiation of benign from malignant melanocytic lesions. 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
6p25 & 6q23 & 11q & 8q24 & 9p21 chromosome partial aneuploidy
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
FISH

Additional Names

Short Name
6p25+6q23+11q+8q24+9p21 aneup Bld/T FISH
Display Name
6p25 and 6q23 and 11q and 8q24 and 9p21 chromosome partial aneuploidy FISH Doc (Bld/Tiss)
Consumer Name Alpha Get Info
6p25 and 6q23 and 11q and 8q24 and 9p21 chromosome partial aneuploidy, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.66
Change Reason
Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Aneuploidía parcial cromosómica 6p25 & 6q23 & 11q & 8q24 & 9p21:Hallazgo:Punto temporal:Sangre o tejido:Doc:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Aneuploidía parcial del cromosoma 6p25 y 6q23 y 11q y 8q24 y 9p21:Hallazgo:Punto temporal:Sangre o tejido:Documento:Hibridación fluorescente in situ (FISH)
fr-FR French (France) Chromosome aneuploïdie partielle régions 6p25 et 6q23 et 11q et 8q24 et 9p21:Recherche:Ponctuel:Sang/Tissu:Document:FISH
it-IT Italian (Italy) 6p25 & 6q23 & 11q & 8q24 & 9p21 aneuploidie cromosomiche parziali:Osservazione:Pt:Sangue/Tess:Doc:FISH
Synonyms: Cromosoma 9p21 Ibridazione in situ fluorescente (FISH) Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) 6p25 & 6q23 & 11q & 8q24 & 9p21-chromosoom partieel aneuploïdie:bevinding:moment:bloed of weefsel:document:FISH
pl-PL Polish (Poland) 6p25 & 6q23 & 11q & 8q24 & 9p21 częściowa aneuploidia chromosomów:wynik:punkt w czasie:krew lub tkanka:dokument:fluorescencyjna hybrydyzacja in situ (FISH)
Synonyms: Częściowa aneuploidia chromosomów 6p25, 6q23, 11q, 8q24 oraz 9p21 Prążek 21 ramienia krótkiego p chromosomu 9
tr-TR Turkish (Turkey) 6p25 & 6q23 & 11q & 8q24 & 9p21 kromozom kısmi anöploidi:Bulgu:Zmlı:Kan/Dk:Dokm:FISH
zh-CN Chinese (China) 6p25 与 6q23 与 11q 与 8q24 与 9p21 染色体部分非整倍体性:发现:时间点:全血/组织:文档型:FISH
Synonyms: 6p25 与 6q23 与 11q 与 8q24 与 9p21 染色体部分非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性）;6p25、6q23、11q、8q24、9p21染色体部分非整倍体性;6p25、6q23、11q、8q24及9p21染色体部分非整倍体性;6p25、6q23、11q、8q24和9p21染色体部分非整倍体性 9 号染色体短臂21段;9p21 染色体;染色体9p21区段;9号染色体短臂21区段 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 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 染色体二体型+染色体三体型 血;血液

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