Version 2.78

Term Description

A balanced reciprocal translocation involving chromosomes 15 and 17, (15;17)(q22;q21), results in a fused transcript between PML and RARA genes. This gene fusion produces the PML-RARA fusion protein, a transcriptional repressor, which causes acute promyelocytic Leukemia (APL). Depending on the breakpoint within the PML gene, various fusion transcripts will be generated: long (L or bcr1), variant (V or bcr2), and short (S or bcr3). Techniques like real-time PCR are used to detect the PML-RARA fused transcripts and breakpoints. An endogenous control gene transcript (e.g. ABL1, GUS or BCR) is amplified along with the fusion transcript of interest. Standard curves of known amounts of both the control and fusion transcript are used to calculate the ratio of the fusion transcript signal to the control gene signal.
Source: Regenstrief LOINC

Part Description

LP101591-8   t(15;17)(q24.1;q21.1)(PML,RARA) bcr2
Three different breakpoint cluster regions (BCR1, BCR2, BCR3) on chromosome 15 leads to the formation of various types of PML-RARA fusion transcripts. BCR1 and BCR3 are most frequently involved in acute promyelocytic leukemia (APL), and BCR2 leads to several different products due to different breakpoints within this cluster. Source: Regenstrief LOINC

Fully-Specified Name

Component
t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 fusion transcript/control transcript
Property
NRto
Time
Pt
System
Bone mar
Scale
Qn
Method
Molgen

Additional Names

Short Name
t(15;17) BCR2/control Mar
Display Name
t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 fusion transcript/control transcript Molgen (BM) [# ratio]
Consumer Name Alpha Get Info
t(15;17)(q24.1;q21.1)(PML,RARA) Bcr2/control Transcript, Bone marrow

Basic Attributes

Class
MOLPATH.TRNLOC
Type
Laboratory
First Released
Version 2.42
Last Updated
Version 2.42
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) bcr2 t(15;17)(q24.1;q21.1)(PML,RARA) Tránscritos de fusión/transcrito control:Relación de número:Punto temporal:Médula ósea:Qn:Genética molecular
Synonyms: Cuantitativo
es-MX Spanish (Mexico) t (15; 17) (q24.1; q21.1) (PML, RARA) transcripción de fusión bcr2 / transcripción de control:Proporción numérica:Punto temporal:Médula ósea:Cuantitativo:Genética molecular
fr-FR French (France) t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 transcrit de fusion/transcrit de référence:Nombre/Nombre:Ponctuel:Moelle osseuse:Numérique:Biologie moléculaire
fr-CA French (Canada) t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 transcrit de fusion/Transcrit de contrôle:Ratio de numérique:Temps ponctuel:Moelle osseuse:Quantitatif:Molgen
it-IT Italian (Italy) t(15;17)(q24.1;q21.1)(PML,RARA) bcr2, trascritto di fusione/trascritto di controllo:NRto:Pt:Mid oss:Qn:Molgen
Synonyms: Genetica molecolare Midollo osseo Patologia molecolare Punto nel tempo (episodio) Rapporto numerico Traslocazione genetica
nl-NL Dutch (Netherlands) t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 fusietranscript/controle transcript:aantalsverhouding:moment:beenmerg:kwantitatief:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 transcrição de fusão/controle de transcrição::Pt:MedOssea:Qn:Genética molecular
ru-RU Russian (Russian Federation) t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 слияния транскрипт/контрольный транскрипт:КолОтн:ТчкВрм:Костный мозг:Колич:МолГен
Synonyms: Количественное отношение Количественный Промиелоцитарный лейкоз Точка во времени;Момент химерная РНК, закодированная слитым геном
tr-TR Turkish (Turkey) t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 füzyon transkript/kontrol transkripti:SayOr:Zmlı:Kem il:Kant:Molgen
zh-CN Chinese (China) t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 融合转录物/对照转录物:计数型比率:时间点:骨髓:定量型:分子遗传学类实验室方法
Synonyms: MYL NR1B1 PML-1 PML-2 PML-3 PML-3B PML-X RAR alpha 型 RAR α型 RARalpha RARα 分子病理学.基因易位;分子病理学.易位;分子病理学试验.基因易位;分子病理学试验.易位;分子病理学试验类.易位;基因易位 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 前髓细胞白血病 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 同一样本内两种不同实体的数量之比;数量型比;数量型比值;数量型比率;数量或计数型比;数量或计数型比值;计数型比;计数型比值;数量或计数型比率 对照转录物（转录本、转录产物、转录子、转录）;对照基因转录本;控制转录本 早幼粒细胞性白血病 早幼粒细胞白血病 早幼粒细胞白血病（Promyelocytic leukemia，PML） 时刻;随机;随意;瞬间 易位(15;17)(q24.1;q21.1)(PML,RARA) 易位(15;17)(q24.1;q21.1)(PML,RARA) bcr2 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 视黄酸受体 alpha 视黄酸受体 alpha（Retinoic acid receptor alpha，RARA，RARalpha，RAR alpha） 视黄酸受体 α 骨骼;骨头 髓

Example Units

Unit Source
% Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=72211-6