Fibro-osseous pseudotumor of digits and myositis ossificans show consistent COL1A1-USP6 rearrangement: a clinicopathological and genetic study of 27 cases
Language English Country United States Media print-electronic
Document type Case Reports, Journal Article
PubMed
30946936
DOI
10.1016/j.humpath.2019.02.009
PII: S0046-8177(19)30053-X
Knihovny.cz E-resources
- Keywords
- COL1A1, Fibro-osseous pseudotumor of digits, Genetics, Myositis ossificans, USP6,
- MeSH
- Diagnosis, Differential MeSH
- Child MeSH
- Adult MeSH
- Fasciitis genetics pathology MeSH
- Fibroblasts pathology MeSH
- Gene Rearrangement genetics MeSH
- Collagen Type I, alpha 1 Chain MeSH
- Collagen Type I genetics MeSH
- Extremities MeSH
- Middle Aged MeSH
- Humans MeSH
- Musculoskeletal Diseases genetics pathology MeSH
- Myositis Ossificans genetics pathology MeSH
- Bone Diseases genetics MeSH
- Child, Preschool MeSH
- Ubiquitin Thiolesterase genetics MeSH
- High-Throughput Nucleotide Sequencing MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- Collagen Type I, alpha 1 Chain MeSH
- Collagen Type I MeSH
- Ubiquitin Thiolesterase MeSH
- USP6 protein, human MeSH Browser
Myositis ossificans (MO) and fibro-osseous pseudotumor of digits (FOPD) are localized, self-limiting bone-producing pseudosarcomatous lesions characterized by nodular fasciitis-like proliferation and osteoid and immature woven bone production, which may eventually develop into more mature lamellar bone. Traditionally, MO and FOPD were thought to be of reactive, non-neoplastic nature. USP6 gene rearrangement was recently reported as a consistent finding in MO and FOPD, thus expanding the spectrum of transient, USP6-rearranged neoplasms. COL1A1 was described as the fusion partner of USP6 in a subset of MO cases, but the fusion partners of USP6-rearranged FOPD have not been uncovered so far. Initially, we carefully reviewed all 27 cases of MO/FOPD from our archives, documenting the remarkable morphological overlap between both lesions. Sixteen cases were seen in consultation, and our review was requested to rule in or rule out tentative diagnoses by referring pathologists. Malignant diagnosis (osteosarcoma) was suggested by the submitting pathologists in 3 cases, whereas 7 cases were sent by the referring pathologists to "rule out sarcoma." In the following step, using next-generation sequencing, we confirmed the COL1A1-USP6 rearrangement in 5/7 cases of MO and found the same abnormality in 4/5 of FOPD. Overall, 9 of the 12 analyzable cases (75%) of MO and FOPD harbored this gene fusion. The presence of COL1A1-USP6 gene rearrangement in MO/FOPD links these lesions to other USP6-driven tumors and represents a very useful supportive marker, which may help to avoid overdiagnosis of MO/FOPD as a sarcoma.
Bioptická laboratoř s r o Mikulášske nám 4 326 00 Pilsen
Department of Pathology Louis Pasteur University Hospital Rastislavova 43 041 90 Košice Slovakia
School of Biological Sciences Georgia Institute of Technology North Ave Atlanta GA 30332 USA
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