Browsing by Subject "TFE3"

Now showing 1 - 4 of 4
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    A review of neoplasms with MITF/MiT family translocations
    (Universidad de Murcia, Departamento de Biologia Celular e Histiologia, 2022) Wei, Shuanzeng; Testa, Joseph R.; Argani, Pedram
    Microphthalmia-associated transcription factor (MITF/MiT) family is a group of basic helix-loophelix leucine zipper (bHLH-LZ) transcription factors including TFE3 (TFEA), TFEB, TFEC and MITF. The first described neoplasms involving MITF family translocation were renal cell carcinomas with chromosome translocations involving ASPLTFE3/t(X;17)(p11.23;q25) or MALAT1-TFEB/t(6;11) (p21.1;q12), and now it is known as MiT family translocation RCC in 2016 WHO classification. Translocations involving MITF family genes also are found in other tumor types, such as perivascular epithelioid cell neoplasm (PEComa), alveolar soft part sarcoma (ASPS), epithelioid hemangioendothelioma, ossifying fibromyxoid tumor (OFMT), and clear cell tumor with melanocytic differentiation and ACTINMITF translocation. In this review, we summarize the features of different types of neoplasms with MITF family translocations.
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    MiT family translocation renal cell carcinomas: A 15th anniversary update.
    (Universidad de Murcia, Departamento de Biologia Celular e Histiologia, 2020) Gandhi, atin S.; Malik, Faizan; Amin, Mahul B.; Argani, Pedram; Bahrami, Armita
    Microphthalmia (MiT) family translocation renal cell carcinomas (RCCs) are a heterogeneous category of renal tumors which all express MiT transcription factors, typically from chromosomal translocation and rarely from gene amplification. This tumor family has two major subtypes [i.e., Xp11 translocation RCC and t(6;11) RCC] and several related neoplasms (i.e., TFEB amplification RCC and melanotic Xp11 translocation renal cancers). Increased understanding of the clinical, pathological, molecular and prognostic heterogeneity of these tumors, since their official recognition in 2004, provides the opportunity to identify prognostic biomarkers and to understand the reasons for tumor aggression. We will review the literature from the past 15 years and highlight the need for a greater understanding of the molecular mechanisms underpinning heterogeneous tumor behavior
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    Review of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with focus on pathobiological aspect
    (F. Hernández y Juan F. Madrid. Universidad de Murcia: Departamento de Biología Celular e Histología, 2012) Kuroda, Naoto; Mikami, Shuji; Pan, Chin-Chen; Cohen, Ronald J.; Hes, Ondrej; Michal, Michal; Nagashima, Yoji; Tanaka, Yukichi; Inoue, Keiji; Shuin, Taro; Lee, Gang-Hong
    The concept of Xp11.2 renal cell carcinoma (RCC) was recently established as a tumor affecting 15% of RCC patients <45 years. Many patients present with advanced stage with frequent lymph node metastases. Histologically, Xp11.2 RCC is characterized by mixed papillary nested/alveolar growth pattern and tumor cells with clear and/or eosinophilic, voluminous cytoplasm. Neoplastic cells show intense nuclear immunoreactivity to TFE3, while focal immunostaining for melanocytic markers, including melanosome-associated antigen or Melan A in some cases, are also noted. Alpha smooth muscle actin and TFEB are consistently negative. Ultrastructurally, the ASPL-TFE3 RCC variant contains rhomboid crystals in the cytoplasm, similar to that observed in alveolar soft part sarcoma. The fusion of the TFE3 gene with several different genes, including ASPL(17q25), PRCC(1q21), PSF(1q34), NonO (Xq12) and CLTC (17q23) have been identified to date. The behavior of Xp11.2 RCC in children and young adults is considered as indolent even when diagnosed at advanced stage, including lymph node metastasis. However, Xp11.2 RCC in older patients behaves in a more aggressive fashion. Therapy includes nephrectomy with extended lymphadenectomy. There may be a role for new protease inhibitors in advanced inoperable disease. Further research is required to correlate clinical behavior with the expanding genetic spectrum of this tumor, and to establish standard therapy protocols for primary and metastatic lesions
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    Stimulator of interferon genes (STING) in renal tumors: Biological bases, diagnostic relevance, and predictive potential
    (2026) Anna Caliò; Lisa Marcolini; Lavinia Stefanizzi; Filippo Maria Martelli; Cinzia Giacometti; Guido Martignoni; Stefano Marletta; Biología Celular e Histología; Universidad de Murcia, Departamento de Biologia Celular e Histiologia
    Renal tumors encompass a diverse group of neoplasms with distinct morphological and molecular features. Recent research has highlighted the stimulator of interferon genes (STING) pathway as a key player in tumorigenesis, immune modulation, and autophagy across various renal tumor histotypes. This review explores the biological, diagnostic, prognostic, and therapeutic implications of STING in both epithelial and mesenchymal renal neoplasms. In clear cell renal cell carcinoma, STING expression correlates with aggressive histological features and poor clinical outcomes, suggesting a role in immune evasion and tumor progression. Similarly, in fumarate hydratase-deficient renal cell carcinoma, STING activation, driven by mitochondrial dysfunction and fumarate accumulation, aligns with PD-L1 expression and tumoral inflammatory infiltrate, supporting its potential function as a predictive biomarker of immunotherapy response. In renal perivascular epithelioid cell (PEC) proliferations, widespread STING expression is linked to autophagy regulation and mTOR pathway interaction, offering novel therapeutic insights. The dual role of STING in promoting or suppressing inflammation underscores the therapeutic potential of both agonists and antagonists of this pathway, depending on the specific tumor entity. Moreover, STING’s interplay with interferons and cytokines, such as IL-6 and IFNγ, further supports its relevance in modulating immune responses and treatment efficacy. Despite current limitations, accumulating evidence places STING as a promising biomarker and therapeutic target in numerous renal tumors. Future studies are warranted to clarify its mechanistic roles and optimize its clinical application across renal tumor subtypes.