HMGA2-NFIB fusion in a pediatric intramuscular lipoma: a novel case of NFIB alteration in a large deep-seated adipocytic tumor. - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Article Dans Une Revue Cancer Genetics and Cytogenetics Année : 2009

HMGA2-NFIB fusion in a pediatric intramuscular lipoma: a novel case of NFIB alteration in a large deep-seated adipocytic tumor.

Résumé

Lipomas are frequently characterized by aberrations of the 12q13 approximately q15 chromosomal region and often by rearrangements of the HMGA2 gene. These rearrangements include the formation of chimeric genes that fuse the 5' region of HMGA2 with a variety of partners, such as LPP (3q28) or NFIB (9p22). We describe here the fourth reported case of lipoma showing a HMGA2-NFIB fusion, and the first one in a child. We found a translocation t(9;12)(p22;q14) in a deep-seated intramuscular lipoma occurring in the buttock of a 5-year-old boy. By fluorescence in situ hybridization and reverse-transcription polymerase chain reaction, we have shown that the translocation t(9;12) resulted in an in-frame fusion of the first four exons of HMGA2 with the last exon of NFIB. Intramuscular lipomas are very rare in childhood. Our results confirm that lipomas containing NFIB rearrangements may be related to peculiar clinicohistologic features, including large size, deep situation, infiltration of surrounding muscles, or precocious occurrence. Both the truncation of HMGA2 and the nature of its fusion partner gene might be relevant in the adipose tissue tumorigenesis.

Dates et versions

hal-00435709 , version 1 (24-11-2009)

Identifiants

Citer

Anne Pierron, Carla Fernandez, Esma Saada, Frédérique Keslair, Géraldine Hery, et al.. HMGA2-NFIB fusion in a pediatric intramuscular lipoma: a novel case of NFIB alteration in a large deep-seated adipocytic tumor.. Cancer Genetics and Cytogenetics, 2009, 195 (1), pp.66-70. ⟨10.1016/j.cancergencyto.2009.06.009⟩. ⟨hal-00435709⟩
79 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More