Browsing by Subject "MDM2"

Now showing 1 - 3 of 3
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    Atypical spindle cell/pleomorphic lipomatous tumor
    (Universidad de Murcia, Departamento de Biologia Celular e Histiologia, 2020) Lecoutere, Evelyne; Creytens, David
    Atypical spindle cell/pleomorphic lipomatous tumor (ASPLT) is a recently described morphologically low-grade and clinically indolent adipocytic tumor, which will be incorporated as a new tumor entity in the upcoming 5th edition of the WHO Classification of Soft tissue and Bone tumors. Histologically, ASPLTs are characterized by ill-defined tumor margins and the presence of variable proportions of mild-to-moderately atypical spindle cells, adipocytes, lipoblasts, pleomorphic multinucleated cells and a myxoid or collagenous extracellular matrix. ASPLTs can show a wide variety of microscopic appearances and there is histologic overlap with diverse mimics. The diagnosis of ASPLT can therefore be challenging. Molecular studies have shown a consistent absence of MDM2 or CDK4 amplification. On the other hand, deletions or losses of 13q14, including RB1, have been identified in a significant subset of cases. This review provides an overview of the currently known clinical and pathological features of ASPLTs, detailing its most relevant differential diagnoses.
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    GLI1 expression is an important prognostic factor that contributes to the poor prognosis of rhabdomyosarcoma
    (Universidad de Murcia. Departamento de Biología Celular e Histología, 2016) Wang, Yuanyuan; Sun, Chao; Jiang, Jinfang; Xie, Yuwen; Li, Bingcheng; Cui, Xiaobin; Chen, Yunzhao; Liu, Chunxia; Li, Feng
    The GLI1 and MDM2 genes are amplified or exhibit copy number gains in rhabdomyosarcoma (RMS). Here, we used immunohistochemistry to determine the relationships between GLI1 and MDM2 protein expression and several clinicopathological variables of RMS. GLI1 and MDM2-positivity rates were 61.36% and 13.64%, respectively. GLI1 expression correlated with presence of the PAX3-FOXO1 fusion gene (P=0.040) and lymph node metastasis (P=0.034), and a significant association was found between GLI1 expression and overall survival (OS) (P=0.008). However, there was no association between MDM2 expression and any of the clinicopathological parameters or OS. Thus, GLI1 may be a biomarker of poor prognosis in RMS patients, and could itself be a therapeutic target. This contrasts with the apparent lack of clinical importance of MDM2 in RMS pathology, at least in the cohorts we examined.
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    Myxoid pleomorphic liposarcoma
    (Universidad de Murcia, Departamento de Biologia Celular e Histiologia, 2024) Fadaei, Sharareh; Cordier, Fleur; Ferdinande, Liesbeth; Dorpe, Jo Van; Creytens, David
    Myxoid pleomorphic liposarcoma (MPL) is an extremely rare adipocytic tumor, recently recognized as a distinct entity in the 5th edition of the World Health Organization (WHO) Classification of Soft Tissue and Bone Tumors. Predominantly found in the mediastinum of young women, MPLs exhibit a combination of histological features characteristic of myxoid liposarcoma and pleomorphic (lipo)sarcoma. Their unique molecular features distinguish MPLs from other liposarcomas. Unlike myxoid liposarcomas and well-differentiated/dedifferentiated liposarcomas, MPLs lack specific FUS/EWSR1::DDIT3 gene fusions and MDM2/CDK4 gene amplifications, respectively. MPLs are associated with complex karyotypes, further highlighting their distinct genetic profile. They demonstrate aggressive growth patterns, high recurrence rates, and a high tendency to metastasize. These factors contribute to a poor prognosis, with a median survival of approximately 22.6 months. The aim of this review article is to provide a comprehensive summary of previously documented case reports and studies related to MPLs. By shedding light on the intricate details of MPLs, researchers and clinicians can gain valuable insights that may pave the way for improvements in diagnosis, treatment, and patient outcomes in the future.