IndraLab
Statements
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"Considered as reactive lesion for a long time, recent studies have shown a genetic fusion of the MYH9-USP6 genes in 83–92% of cases leading to the overexpression of the protein USP6 (Ubiquitin-specific peptidase 6), pro-oncogene, and which can help confirm the diagnosis ( xref ; xref )."
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"Among the benign F/M tumours, nodular fasciitis, previously considered a reactive process, is now definitively established as a self-limiting neoplasm associated with rapid growth and ultimately spontaneous regression over the course of months based on MYH9-USP6 gene fusion [ xref ]."
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"Fusion genes were composed of (i) SS18-SSX family (including S S18-SSX1 , SS18-SSX2, and SS18-SSX4 , n = 13), (ii) EWSR1 -associated fusions (n = 15), (iii) COL1A1-PDGFB (n = 8), (iv) FOXO1 -associated fusions (n = 6), and (v) FUS -associated fusions (n = 5), (vi) BCOR-CCNB3 (n = 3), (vii) ASPSCR1-TFE3 (n = 3), MYH9-USP6 (n = 2), NAB2-STAT6 (n = 2) and ACTB-GLI1 (n = 1), respectively (Fig. xref )."
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"Nodular fasciitis is a benign lesion classically arising in the young adults and displays myofibroblast in tissue culture within variable myxoid or collagen-rich stroma, cystic and hemorrhagic space, and a loose storiform growth pattern, along with scattered lymphocytes, plasma cells, osteoclast-like giant cells, it strongly expresses smooth muscle actin but usually neither desmin nor Myo-D1 and Myogenin, more importantly, it is characterized by harboring MYH9-USP6 fusion that lacked in ES-RMS [ xref , xref ]."
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"RT-PCR was the most commonly used method for identifying MYH9-USP6 formation in previous studies.[ xref , xref ]In total, 65% to 75% of patients with USP6 rearrangements were tested and found to be positive for MYH9-USP6 fusion in type I or/and type II patterns via RT-PCT.[ xref , xref ]In our study, the MYH9-USP6 transcript was identified in only 14.2% (1/7) of patients via RT-PCR, which is a significantly lower percentage than that in previous studies of NF cases.[ xref , xref ]Considering the limitation of the traditional RT-PCR method, such as limitations of reported primers and relative low detection sensitivity, further molecular studies such as next generation sequencing based technology are needed in discovering other occult or novel alterations."
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"However these proliferations consistently show a t(17;22)(p13;q13) representing a USP6-MYH9 fusion. xref , xref This rearrangement of USP6 can be detected by FISH in 90% of cases of nodular fasciitis and is not present in lesions that mimic nodular fasciitis. xref In one study it had a sensitivity of 86% and a specificity of 100%. xref "
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"Erickson-Johnson et al. described a USP6-MYH9 fusion resulting from a t(17; 22)(p13; q1.1) in 92% of 48 cases of nodular fasciitis. xref Molecular testing showed that the coding region of USP6 was fused to the promoter region of MYH9, resulting in increased USP6 expression. xref This gene fusion is not, however, essential for nodular fasciitis, as there are reported cases that lack this rearrangement. xref Additionally, 7 fusion partners other than MYH9 have been identified in nodular fasciitis, suggesting that nodular fasciitis is a neoplastic rather than reactive process, albeit transient with a tendency to resolve spontaneously. xref , xref Analogously, as the majority of cases of primary aneurysmal bone cysts are characterized by USP6 rearrangement, these lesions, also once thought to be reactive, are now recognized as neoplastic. xref , xref "
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"MYH9 is an evolutionary conserved gene located on chromosome 22 and encodes for the myosin-9 protein, which forms the heavy chain of the cytoplasmic non-muscle myosin IIA3 (NMM IIA). xref MYH9 is an actin binding molecular motor and is involved in cell adhesion, migration, as well as signal transduction. xref It is the only myosin class II protein that is highly expressed in T cells and has been linked to T-cell motility, xref as well as immunological synapses and T-cell activation. xref Fusions involving MYH9 have been found in other disorders and include MYH9::FLT3 , xref MYH9::ROS1 , xref and MYH9::USP6 . xref Similarly, PDGFRB fusion proteins have been described in myeloid disorders and myeloid leukemia xref , xref , xref , xref and, indeed, aberrant expression of this receptor tyrosine kinase has been described in several cancer entities. xref , xref "