Version 2.77

Term Description

Rearrangements within the MAML2 gene located on chromosome 11q21 are detected in tissue (e.g. salivary gland tumors) by in-situ hybridization (e.g. FISH) methods. Presence of split signals indicate gene rearrangement. MAML2 rearrangements must be present in greater than or equal to 10% of lesional cells in order to be considered positive. The submitter's lab for this term report results (e.g. percent of lesional cells, ISCN nomenclature, and qualification of a positive result) as descriptive text. For example, a narrative result may state, "50% of lesional cells contain MAML2 rearrangement, nuc ish(MAML2x2)(5MAML2 sep 3MAML2x1)[100/200]. MAML2 rearrangement must be present in greater than or equal to 10% of lesional cells in order to be considered positive." Results are used to diagnose Mucoepidermoid carcinoma (MEC). Other carcinomas, such as salivary duct carcinoma, adenosquamous carcinoma, acinic cell carcinoma, and Warthin tumor are negative for the MAML2 rearrangements.
Source: Regenstrief LOINC

Part Descriptions

LP173521-8   MAML2 11q21 gene rearrangements
Mucoepidermoid carcinomas (MEC) represent 5% of all salivary gland tumors and 20% of salivary malignancies. A portion of these carcinomas are associated with gene rearrangements involving the the C-terminal of mastermind-like gene 2 (MAML2) and either cAMP response element-binding protein (CREB)-regulated transcription coactivator 1 (CRTC1) or 3 (CRTC3). CTCR1-MAML2 fusion has been detected in 40-80% of primary salivary gland mucoepidermoid carcinomas. MECs positive for MAML2 fusions (CRTC1-MAML2 or CRTC3-MAML2) are associated with favorable clinicopathological tumor features, including lower patient age, a mild female predilection, a smaller tumor size, less frequent nodal metastasis, a lower clinical stage, a lower histological grade, and longer overall and disease-free survival. Source: Regenstrief LOINC, PMID: 23035786

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
MAML2 11q21 gene rearrangements
Property
Find
Time
Pt
System
Tiss
Scale
Doc
Method
FISH

Additional Names

Short Name
MAML2 11q21 Tiss FISH
Display Name
MAML2 11q21 rearrangements FISH Doc (Tiss)
Consumer Name Alpha Get Info
MAML2 11q21 rearrangements, Tissue

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.46
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) Reordenamientos gen MAML2 11q21:Hallazgo:Punto temporal:Tejido:Doc:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Reordenamientos del gen MAML2 11q21:Hallazgo:Punto temporal:Tejido y frotis:Documento:Hibridación fluorescente in situ (FISH)
fr-FR French (France) MAML2 gène 11q21 réarrangements:Recherche:Ponctuel:Tissu:Document:FISH
it-IT Italian (Italy) MAML2 11q21, riarrangiamenti genici:Osservazione:Pt:Tessuto:Doc:FISH
Synonyms: Ibridazione in situ fluorescente (FISH) Osservazione Patologia molecolare Punto nel tempo (episodio) Riarrangiamento genico Tessuto & Strisci
nl-NL Dutch (Netherlands) MAML2 11q21-genherschikkingen:bevinding:moment:weefsel en uitstrijkjes:document:FISH
Synonyms: MAML2 11q21 gentranslocaties
pt-BR Portuguese (Brazil) MAML2 11q21rearranjos do gene:Ident:Pt:Tecido:Nar:FISH
tr-TR Turkish (Turkey) MAML2 11q21 geni yeniden düzenleme:Bulgu:Zmlı:Doku:Dokm:FISH
zh-CN Chinese (China) MAML2 11q21 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 MAML2 11q21 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.基因重排;分子病理学.重排;分子病理学试验.基因重排;分子病理学试验.重排;分子病理学试验类.重排;基因重排;重排 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

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