81849-2LOINC 2.82
t(1;13)(p36.13;q14.1)(PAX7,FOXO1) and t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript in Blood or Tissue by Molecular genetics method
t(1;13)(p36;q14)+t(2;13)(q36;q14) Bld/T
Definition
- Most alveolar rhabdomyosarcoma (ARMS) cases contain one of two recurrent chromosomal translocations: t(2;13)(q35;q14)(PAX3,FOXO1) or t(1;13)(p36;q14)(PAX7,FOXO1).[PMID: 22710712] Genetic subtyping has identified PAX7-FOXO1, PAX3-FOXO1, and fusion-negative subsets of ARMS.[PMCID: PMC3564712]
Component
- t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript
Specimen / system
- Bld/Tiss
Class
- MOLPATH.TRNLOC
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- 13q14.1; 1p36.13; Blood; DNA; Document; Finding; Findings; FKH; FKH1; FKHR; Forkhead box
O1A; Forkhead in rhabdomyosarcoma; FOXO1A; gene fusion; gene translocation; Genetics; Heredity; Heritable; Hup1; i; II; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.TRANSLOCATION; Paired box gene 3; Paired box gene 7; Paired box homeotic gene 3; Paired box homeotic gene 7; Paired domain gene HUP1; PCR; Point in time; Random; RNA; T prime; t(1,13)(PAX7,FKHR) gene translocation; t(1;13)(p36;q14)+t(2;13)(q36;q14); t(1;13)(PAX7,FOXO1); t(2,13)(PAX3,FKHR) gene translocation; t(2;13)(PAX3,FKHR); Tissue; Tissue, unspecified; translocation; WB; Whole blood; Whole blood or Tissue
Index terms
- 13)(p36
- 13)(PAX3,FKHR)
- 13)(PAX7,FOXO1)
- 13)(q36
- 13q14.1
- 1p36.13
- Blood
- DNA
- Document
- Finding
- Findings
- FKH
- FKH1
- FKHR
- Forkhead box O1A
- Forkhead in rhabdomyosarcoma
- FOXO1A
- gene fusion
- gene translocation
- Genetics
- Heredity
- Heritable
- Hup1
- i
- II
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.TRANSLOCATION
- Paired box gene 3
- Paired box gene 7
- Paired box homeotic gene 3
- Paired box homeotic gene 7
- Paired domain gene HUP1
- PCR
- Point in time
- q14)
- q14)+t(2
- Random
13 further terms