81849-2

LOINC 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