75013-3

t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript [Presence] in Bone marrow by Molecular genetics method

Active

Part Description

LP19847-0 t(8;21)(q22;q22.3)(RUNX1T1,RUNX1)
Translocation (8;21) resulting in a fused transcript between RUNX1T1 (also known as ETO) and RUNX1 genes is one of the most common chromosomal translocations found in acute myeloid leukemia (AML). The RUNX1T1-RUNX1 fusion transcript is found in approximately 12% of all AML patients. RUNX1 is a transcription factor that regulates critical processes in many aspects of hematopoiesis and is essential in defining the final hematopoietic stem cell. It is involved in many forms of chromosomal translocations in leukemia. In addition, many hematological diseases have been associated with mutations in RUNX1. PMID: 22201794 Source: Regenstrief LOINC, PMID: 22201794

Fully-Specified Name

Component: t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript
Property: PrThr
Time: Pt
System: Bone mar
Scale: Ord
Method: Molgen

Additional Names

Short Name: t(8;21)(RUNX1T1,RUNX1) Mar Ql
Display Name: t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript Molgen Ql (BM)
Consumer Name Alpha Get Info: t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript analysis, Bone marrow

Example Answer List: LL360-9

Source: Regenstrief Institute

Answer	Code	Score	Answer ID
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value)			LA6576-8
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value)			LA6577-6

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.48
Last Updated: Version 2.56
Change Reason: The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) Tránscritos de fusión:PrThr:Punto temporal:Médula ósea:Ord:Genética molecular
es-MX	Spanish (Mexico)	t (8; 21) (q22; q22.3) (RUNX1T1, RUNX1) transcripción de fusión:Presencia o umbral:Punto temporal:Médula ósea:Ordinal:Genética molecular
fr-FR	French (France)	t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) transcrit de fusion:Présence/Seuil:Ponctuel:Moelle osseuse:Qualitatif:Biologie moléculaire
it-IT	Italian (Italy)	t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) , trascritto di fusione:PrThr:Pt:Mid oss:Ord:Molgen Synonyms: Genetica molecolare Midollo osseo Patologia molecolare Presenza o Soglia Punto nel tempo (episodio)
nl-NL	Dutch (Netherlands)	t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusietranscript:aanwezigheid:moment:beenmerg:ordinaal:moleculair genetisch onderzoek Synonyms: molgen
pt-BR	Portuguese (Brazil)	t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) transcrição de fusão::Pt:MedOssea:Ord:Genética molecular
ru-RU	Russian (Russian Federation)	t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) слияния транскрипт:PrThr:ТчкВрм:Костный мозг:Пор:МолГен Synonyms: Порядковый Точка во времени;Момент химерная РНК, закодированная слитым геном
tr-TR	Turkish (Turkey)	t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) füzyon transkript:MevcEşik:Zmlı:Kem il:Srl:Molgen Synonyms: Mevcut
zh-CN	Chinese (China)	t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) 融合转录物:存在情况或阈值:时间点:骨髓:序数型:分子遗传学类实验室方法 Synonyms: AML1 CDR ETO MGC2796 MTG8 RUNX1T1 T(8,21)(CBFA2T1,CBFA2) 基因易位;T(8,21)(CBFA2T1,CBFA2) 易位 ZMYND2 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型分子病理学;分子病理学试验分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值）急性髓性白血病 1 急性髓性白血病 1 易位 1, 细胞周期蛋白-D 相关性急性髓性白血病 1 染色体易位 1, 细胞周期蛋白-D 相关性急性髓系白细胞 1 急性髓系白细胞 1 易位 1, 细胞周期蛋白-D 相关性急性髓系白细胞 1 易位 1, 细胞周期蛋白-D 相关性（Acute myelogenous leukemia 1 translocation 1, cyclin-D related）急性髓系白细胞 1 染色体易位 1, 细胞周期蛋白-D 相关性急性髓系白细胞 1（Acute myeloid leukemia 1）急性髓细胞白血病 1 急性髓细胞白血病 1 易位 1, 细胞周期蛋白-D 相关性急性髓细胞白血病 1 染色体易位 1, 细胞周期蛋白-D 相关性时刻;随机;随意;瞬间染色体 8q22 之上的 AML1T1L 髓系易位基因核心结合因子侏儒结构域 alpha 亚基 2 核心结合因子侏儒结构域α亚基 2 核心结合因子矮小域 alpha 亚基 2 核心结合因子矮小域α亚基 2 核心结合因子矮小结构域 alpha 亚基 2 核心结合因子矮小结构域 alpha 亚基 2（Core binding factor runt domain alpha subunit 2）核心结合因子矮小结构域α亚基 2 融合转录物（转录本、转录产物、转录子、转录）;融合基因转录本;融合转录骨骼;骨头髓

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

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75013-3

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

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.