ICD10 Code = C49.9
肺泡狀橫紋肌肉瘤
Genomic coordinate (human 13:40,555,667 FOXO1).
Cytoband (human 13q14.11 FOXO1).
OMIM’ genes @ 13q14.11 = 12 genes.
ClinVar = 87 FOXO1 variants reported.
PANTHER Classification is PC00218 “transcription factor”
Cytoband Structure: WCWCCWG6BGBGB2GB2
⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ ⠃⠼⠃ ⠛ ⠃⠼⠃
Here I present: “Alveolar Rhabdomyosarcoma”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (FOXO1)
INTRODUCTION.
Alveolar rhabdomyosarcoma (ARMS ) 肺泡狀橫紋肌肉瘤 is an aggressive soft tissue sarcoma that occurs in children and is usually characterized by a recurrent t(2;13)(q35;q14) chromosomal translocation. This 2;13 translocation breaks and rejoins portions of the PAX3 and FOXO1 genes to generate a PAX3-FOXO1 fusion gene that expresses a PAX3-FOXO1 fusion transcript encoding a PAX3-FOXO1 fusion protein.
