USP6 (Ubiquitin Specific Peptidase 6)

This series offers an integrated clinicopathological and molecular overview of diagnostically challenging nodular fasciitis, emphasising the importance of including it in the differential diagnosis of mesenchymal tumours in both superficial and deep sites. We believe this series contributes to the understanding of USP6-associated neoplasia and will aid pathologists in recognising nodular fasciitis in challenging settings, enhance diagnostic confidence, and support targeted use of advanced molecular techniques.

She subsequently received systemic therapy, initially with temozolomide and later pazopanib, followed by sunitinib. This case illustrates the importance of molecular drivers of cancer in a benign soft-tissue tumor and the potential to offer targeted therapies to extend patient survival. This rare case highlights the potential malignant behavior of nodular fasciitis associated with PPP6R3-USP6 fusion.

This case highlights a rare manifestation of NF with ulceration in the finger, an entity that can closely mimic high-grade sarcoma. Awareness of this presentation and the use of molecular confirmation of USP6 gene rearrangement are crucial for accurate diagnosis and avoidance of unnecessary radical surgery, particularly in functionally and cosmetically critical locations such as the hand.

However, pathological examination of the entire tumor after resection revealed atypical mitosis. Results of immunohistochemical tests revealed no H3G34W mutation, and molecular genetic analyses revealed no USP6 gene rearrangement, leading to a final diagnosis of telangiectatic osteosarcoma.

The lesion exhibits diverse histological features, and demonstrates a high positive rate for USP6 rearrangement by FISH. The prognosis is excellent following complete surgical excision.

All fusions resulted in transcriptional upregulation of USP6. In this report, we summarize the clinical, radiographic, and histologic presentations of these new cases and describe the associated fusion structures.

Taken together, these findings support the concept of a USP8-rearranged myofibroblastic neoplasm as a potentially distinct entity, but the precise relationship with nodular fasciitis and inflammatory myofibroblastic tumor remains uncertain. Further studies integrating morphology, epigenetics, and transcriptomics are needed to clarify this relationship.

This case expands the anatomical spectrum of florid reactive periostitis to include the sacrum. Diagnosis requires multidisciplinary correlation of clinical, imaging, and pathological findings to differentiate florid reactive periostitis from malignant lesions. Conservative management may be effective for symptomatic sacral florid reactive periostitis.

A significant entity- and location-specific USP6 fusion partner diversity was revealed among the UAN members. This supports the hypothesis that this diversity may be linked to the cell of origin. Additionally, molecular analysis can be valuable in diagnosing non-classical NF.

Furthermore, the pleiotropic regulation of RRBP1 in neurodegeneration, cardiovascular homeostasis and bone metabolism highlights its environment-dependent functions. The present review identified the multidimensional regulatory network of RRBP1 in cancer and non-cancer systems to enhance the understanding of its molecular mechanism, demonstrated its broad regulatory value and potentially provided a key entry point to analyze the disease and develop precision therapies.

Gene mutation profiles of cervical cancer in Okinawa may differ from those in other regions.

Molecular analyses revealed that this subtype is also characterized by the rearrangement of USP6 and the absence of the H3F3A mutation. This report discusses the clinical features of this extremely rare neoplastic lesion, the importance of an integrated diagnosis, and treatment options.