Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

Article Medicine, General & Internal

Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy

Viola Bianca Serio et al.

Summary: This study investigated the molecular characterization of vascular malformations (VMs) by conducting cfDNA-NGS liquid biopsy on 53 patients. The results showed a correlation between different gene variants and specific types of VMs.

JOURNAL OF CLINICAL MEDICINE (2022)

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Article Biochemistry & Molecular Biology

Growth and Viability of Cutaneous Squamous Cell Carcinoma Cell Lines Display Different Sensitivities to Isoform-Specific Phosphoinositide 3-Kinase Inhibitors

Viviana Mannella et al.

Summary: This study identified the potential therapeutic value of several PI3K isoforms in cSCC, showing differential sensitivity of different cell lines to specific PI3K inhibitors. These results may contribute to the development of more targeted therapeutic strategies for cSCC.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Peripheral Vascular Disease

Review on target treatment of Klippel-Trenaunay Syndrome

Byung-Boong Lee et al.

Summary: Klippel-Trenaunay Syndrome is a rare and complex vascular malformation syndrome that requires the presence of multiple characteristics for diagnosis, making it difficult to differentiate from other syndromes. Understanding the hemodynamic aspects is crucial for effective management due to the slow-flow nature of KTS compared to other syndromes.

ITALIAN JOURNAL OF VASCULAR AND ENDOVASCULAR SURGERY (2021)

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Review Medicine, General & Internal

Recent Updates on the Involvement of PI3K/AKT/mTOR Molecular Cascade in the Pathogenesis of Hyperproliferative Skin Disorders

Laura Mercurio et al.

Summary: PI3K represents a family of kinases that control multiple biological processes in mammalian cells and is associated with various skin pathologies. The dysregulation of PI3K/AKT/mTOR pathway contributes to uncontrolled cell proliferation and resistance to apoptosis in skin cancers, while also leading to enhanced proliferation, defective differentiation, and anti-apoptosis in psoriasis. The role of PI3K/AKT/mTOR in atopic dermatitis is less characterized, with recent evidence highlighting its function in epidermal barrier formation and stratification.

FRONTIERS IN MEDICINE (2021)

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Review Cell Biology