ArticleCancer genomics & proteomics
Fusion of the Lumican (
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 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Rethinking the role of bisphosphonates after denosumab treatment in locally advanced or unresectable aneurysmal bone cysts: A meta-analysis.World journal of orthopedics · 2025Article
- Review
- Tumors and infections of the growing spine.Journal of children's orthopaedics · 2023Review
- Histopathogenesis of bone- and soft-tissue tumor spectrum with USP6 gene rearrangement: multiple partners involved in the tissue repair process.Histology and histopathology · 2023Review
- Article
- Nodular fasciitis of the breast: clinicopathologic and molecular characterization with identification of novel USP6 fusion partners.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- The role of molecular diagnostics in aneurysmal and simple bone cysts - a prospective analysis of 19 lesions.Virchows Archiv : an international journal of pathology · 2021Article
- Recurrent Fusion of the Genes for High-mobility Group AT-hook 2 (Cancer genomics & proteomicsArticle
- Neoplasia-associated Chromosome Translocations Resulting in Gene Truncation.Cancer genomics & proteomicsReview
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimAneurysmal bone cyst is a benign bone lesion with a strong tendency to recur. The rearrangement of chromosome band 17p13/USP6 gene is now considered a characteristic genetic feature of aneurysmal bone cyst, with t(16;17)(q22;p13)/CDH11-USP6 as the most frequent chromosomal aberration/fusion gene. We report a novel variant translocation leading to a new fusion gene in an aneurysmal bone cyst. MATERIALS AND
methodsGenetic analyses were performed on an aneurysmal bone cyst found in the tibia of a child.
resultsG-banding chromosome analysis yielded the karyotype 46,XX,t(12;17)(q21;p13)[5]/46,XX[2]. FISH analysis with a USP6 break-apart probe showed rearrangement of USP6. RNA sequencing detected LUM-USP6 and USP6-LUM fusion transcripts which were subsequently verified by RT-PCR/Sanger sequencing. The two genes exchanged 5'- non-coding exons. Thus, promoter swapping between USP6 and LUM had taken place.
conclusionWe report a novel t(12;17)(q21;p13) chromosome translocation which gave rise to a LUM-USP6 fusion in an aneurysmal bone cyst.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.