74034-0

MAML2 11q21 gene rearrangements in Tissue by FISH

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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

Long Common Name

MAML2 11q21 gene rearrangements in Tissue by FISH

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

Related Names

• Document
• Finding
• Findings
• Fluorescent in situ hybridization
• Genetics
• Heredity
• Heritable
• Inherited
• Molecular pathology
• MOLPATH
• MOLPATH.REARRANGEMENTS
• Point in time
• Random
• Rearr
• Rearrangement
• Tissue
• Tissue, unspecified

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LOINC Copyright

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 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.