Presence of a t(12;18)(q14;q21) Chromosome Translocation and Fusion of the Genes for High-mobility Group AT-Hook 2 (HMGA2) and WNT Inhibitory Factor 1 (WIF1) in Infrapatellar Fat Pad Cells from a Patient With Hoffa's Disease.

ABSTRACT:

Background/aim

Hoffa's disease is anterior knee pain presumably stemming from inflammatory fibrous hyperplasia of the infrapatellar fat pad (Hoffa's pad). The etiology and pathogenesis are unclear, however, and no genetic information about the disease has been published. We report the genetic findings in cells from the fat pad of a patient with Hoffa's disease.

Materials and methods

Infrapatellar fat pad cells from a patient with Hoffa's disease were examined using cytogenetic, RNA sequencing, reverse transcription-polymerase chain reaction, and Sanger sequencing techniques.

Results

Cytogenetic examination of short-term cultured cells from the Hoffa's pad revealed a balanced t(12;18)(q14;q21) translocation as the sole chromosomal aberration. RNA sequencing detected an

SUBMITTER: Panagopoulos I 

PROVIDER: S-EPMC9353724 | biostudies-literature | 2022 Sep-Oct

REPOSITORIES: biostudies-literature