SOX11 expression in a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma containing BRAF c.1799_1801delTGA and CTNNB1 c.133T>C mutations.
The expression of platelet-derived growth factor-B relative to glyceraldehyde-3-phosphate dehydrogenase was enhanced by cyclic strain only in the fibromatosis tissue (0.7 to 2.1, p = 0.04).
Human aggressive fibromatoses and lesions from the Apc+/Apc1638N mouse (a murine model for Apc-driven fibromatosis) demonstrated elevated COX-2 levels.
Evidence of ED-B+ fibronectin synthesis in human tissues by non-radioactive RNA in situ hybridization. Investigations on carcinoma (oral squamous cell and breast carcinoma), chronic inflammation (rheumatoid synovitis) and fibromatosis (Morbus Dupuytren).
Immunostaining for c-KIT (CD117) was undertaken in all cases in light of a previous report of positive CD117 immunoreactivity in abdominal desmoid-type fibromatoses.
A novel, heterozygous missense variant (c.230T>C, p.Val77Ala) in the Asteroid Homolog 1 (<i>ASTE1</i>) gene was identified as a potential risk factor in fibrotic disease using exome sequencing and family studies of five family members: four <i>LMNA</i> mutation carriers with fibromatosis and one individual without the <i>LMNA</i> mutation and no fibromatosis.
Global gene expression profiling followed by quantitative real-time PCR showed that FOSL1 was expressed at higher levels in DF with 11q12 rearrangements than in desmoid-type fibromatoses.
In the present study, based on a large series, we confirmed the presence of MED12 exon 1 and 2 mutations in 49% (41/83) of PTs, 70% (7/10) of FAs and 9.1% (1/11) of fibromatoses.
Aberrant nuclear immunoreactivity for β-catenin and absent staining for CD34 were the most useful studies to diagnose fibromatosis, and one or both were performed in 21 (68%) cases.