ArticleCancer genomics & proteomics
Presence of a t(12;18)(q14;q21) Chromosome Translocation and Fusion of the Genes for High-mobility Group AT-Hook 2 (
Article in Cancer genomics & proteomics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Pathology of intra-articular tumours and tumour-like lesions: pearls, pitfalls and rarities from a general surgical pathology practice.Skeletal radiology · 2024Review
- Neoplasia-associated Chromosome Translocations Resulting in Gene Truncation.Cancer genomics & proteomicsReview
- Recurrent 8q11-13 Aberrations Leading toCancer genomics & proteomicsArticle
- Fusion of the High-mobility Group AT-Hook 2 (In vivo (Athens, Greece)Article
- Fusion of the Genes for Interferon Regulatory Factor 2 Binding Protein 2 (In vivo (Athens, Greece)Article
- Fusion of Platelet Derived Growth Factor Receptor Alpha (Cancer genomics & proteomicsArticle
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimHoffa'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
methodsInfrapatellar 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.
resultsCytogenetic 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 out-of-frame fusion of exon 3 of the gene coding for high mobility group AT-hook 2 (HMGA2) with exon 9 of the gene coding for WNT inhibitory factor 1 (WIF1). The fusion was subsequently verified by reverse transcription-polymerase chain reaction together with Sanger sequencing.
conclusionOur data indicate that Hoffa's disease is a neoplastic process with acquired genetic aberrations similar to those found in many benign tumors of connective tissues. The genetic aberrations are presumably acquired by mesenchymal stem cells of the infrapatellar fat pad inducing proliferation and differentiation into adipocytes or other mature connective tissue cells.
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