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Mario Della Mura

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Review Open access Jul 2026

Oral glomus tumor: A systematic review highlighting clinical and histopathological characteristics of a time-reclassified entity

Oral glomus tumors are exceptionally rare perivascular neoplasms that are frequently misdiagnosed due to their nonspecific clinical presentation. Their rarity has historically resulted in inconsistent terminology and a limited understanding of their biological behavior. This systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines and registered in the International Prospective Register of Systematic Reviews (ID 1175198). A comprehensive literature search of PubMed, Scopus, and Web of Science (1954–2024) was performed to identify English-language case reports and case series describing histologically confirmed oral glomus tumors. Extracted data included demographics, tumor location and size, histopathological features, treatment modalities, recurrence, and follow-up. A total of 740 records were identified, of which 31 studies met the inclusion criteria, yielding 34 confirmed cases of oral glomus tumor. Patients ranged from 8 to 85 years, with a slight male predominance. The most frequently affected site was the lip, followed by the tongue, palatal mucosa, and other intraoral soft tissues. Tumor size varied from 0.3 to 4.5 cm. Classic glomus tumor was the most common subtype, with occasional reports of glomangiomyoma and one case of glomangiosarcoma. Surgical excision was curative in most patients. Recurrence occurred in a minority of cases, but metastasis was not reported in the only case of glomangiosarcoma. Oral glomus tumors are predominantly benign, well-circumscribed lesions with excellent prognosis following complete surgical excision. Accurate diagnosis relies on thorough histopathological and immunohistochemical evaluation, given the potential overlap with other mesenchymal tumors. This review provides the most updated synthesis of clinical, pathological, and outcome features of oral glomus tumors.

E. Cascardi, F. Maglitto, Mario Della Mura et al. · 0 citations
#gene editing Review Open access Aug 2026

SAVI: molecular mechanisms, clinical spectrum and precision medicine approaches beyond type-I IFN

Type I interferonopathies (TI-IFN) represent a heterogeneous group of autoinflammatory disorders characterized by upregulated type I interferon (IFN) signaling. Among them, STING-associated vasculopathy with onset in infancy (SAVI) is a rare, severe autoinflammatory disease caused by gain-of-function mutations in the STING1 gene. Mechanistically, these mutations lead to a constitutive activation of the STING protein, resulting in excessive type I interferon production, which drives chronic inflammation and damage to various organs, primarily as cutaneous vasculopathy and progressive interstitial lung disease (ILD). Emerging clinical data indicate that current therapeutic options – including Janus kinase inhibitors (JAKi), biological agents as anifrolumab and solid organ transplantation – for SAVI face limited and often inconsistent long-term efficacy, highlighting a significant unmet need. Consistently, preclinical models highlight that SAVI pathogenesis is not only driven by the interferon storm, but relies also on non-canonical IFN-independent cellular pathways across distinct hematopoietic and non-hematopoietic compartments. This review provides a comprehensive overview of SAVI pathogenesis, from mutational mechanisms and comparative phenotypes to the clinical challenges of advanced interventions. Finally, we discuss future therapeutic prospects and clinical implications, exploring next-generation frontiers such as patient-derived induced pluripotent stem cell (iPSCs) models, hematopoietic stem cell transplantation (allo-HSCT) and gene editing (GE) technologies. The transition from immune - to a mutational-perspective, provides a foundational framework to optimize diagnostic and therapeutic strategies for precision medicine in SAVI patients.

M. Manganelli, Paola Cantalice, Jona Papri et al. · 0 citations

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