The role of L1CAM as predictor of poor prognosis in stage I endometrial cancer: a systematic review and meta-analysis

Giannini, Andrea; D’Oria, Ottavia; Corrado, Giacomo; Bruno, Valentina; Sperduti, Isabella; Bogani, Giorgio; Laganà, Antonio Simone; Chiàntera, Vito; Caserta, Donatella; Vizza, Enrico

doi:10.1007/s00404-023-07149-8

Cited by 20 publications

(1 citation statement)

References 52 publications

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“…In tumors, the expression of L1CAM not only promotes the proliferation of tumor cells but also enhances the expression of genes related to tumor invasion, which is closely related to tumor infiltration and metastasis. 37,38 L1CAM mediates cell-cell interactions through homotypic and heteroparental interactions of its Ig-like domain and produces a marked effect in cell migration. 39 Therefore, changes of the L1CAM subcellular distribution may affect the self-interaction of L1CAM proteins or their affinity binding with other extracellular ligands, thereby affecting signal transduction and cell adhesion.…”

Section: Discussionmentioning

confidence: 99%

Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity

Yao,

Qiu,

Wei

et al. 2024

Cell Biochemistry & Function

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L1 syndrome, a neurological disorder with an X‐linked inheritance pattern, mainly results from mutations occurring in the L1 cell adhesion molecule (L1CAM) gene. The L1CAM molecule, belonging to the immunoglobulin (Ig) superfamily of neurocyte adhesion molecules, plays a pivotal role in facilitating intercellular signal transmission across membranes and is indispensable for proper neuronal development and function. This study identified a rare missense variant (c.1759G>C; p.G587R) in the L1CAM gene within a male fetus presenting with hydrocephalus. Due to a lack of functional analysis, the significance of the L1CAM mutation c.1759G>C (p.G587R) remains unknown. We aimed to perform further verification for its pathogenicity. Blood samples were obtained from the proband and his parents for trio clinical exome sequencing and mutation analysis. Expression level analysis was conducted using western blot techniques. Immunofluorescence was employed to investigate L1CAM subcellular localization, while cell aggregation and cell scratch assays were utilized to assess protein function. The study showed that the mutation (c.1759G>C; p.G587R) affected posttranslational glycosylation modification and induced alterations in the subcellular localization of L1‐G587R in the cells. It resulted in the diminished expression of L1CAM on the cell surface and accumulation in the endoplasmic reticulum. The p.G587R altered the function of L1CAM protein and reduced homophilic adhesion capacity of proteins, leading to impaired adhesion and migration of proteins between cells. Our findings provide first biological evidence for the association between the missense mutation (c.1759G>c; p.G587R) in the L1CAM gene and L1 syndrome, confirming the pathogenicity of this missense mutation.

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Section: Discussionmentioning

confidence: 99%

Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity

Yao,

Qiu,

Wei

et al. 2024

Cell Biochemistry & Function

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Red cell distribution width and mean platelet volume detection in patients with endometrial cancer and endometrial hyperplasia

Rafiei Sorouri,

Kabodmehri,

Milani

et al. 2024

Health Science Reports

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BackgroundEndometrial cancer is the most common malignancy in women in developed countries, and its incidence is increasing annually. Due to the availability and cost‐effectiveness of serum markers of red cell distribution width (RDW), and mean platelet volume (MPV), we decided to investigate these two important markers in patients with endometrial cancer and assess their role in diagnosing the tumor and differentiate it from endometrial hyperplasia and other causes of bleeding.MethodsThis is a case‐control study that examined the data of patients who were referred to Al‐Zahra Hospital during 2022–2023 with complaints of abnormal bleeding and underwent diagnostic curettage. Based on the pathology findings, the patients were divided into 3 groups, including endometrial cancer, endometrial hyperplasia, and control. The clinical characteristics and results of MPV and RDW were compared in these three groups. The IBM SPSS Statistics for Windows, Version 21.0. was used for data analysis.ResultsIn this study, 87 women were examined in three groups endometrial cancer, endometrial hyperplasia, and control with a mean age of 52.70 ± 11.63 years. The results showed that the endometrial cancer group, had higher gravida, underlying disease, history of radiation therapy, anticoagulant therapy, blood transfusion, surgery, and family history of cancer (p < 0.05). Meanwhile, the endometrial cancer group had lower menstrual age and history of using contraceptives than other groups (p < 0.05). In addition, in this study, the results indicated that the levels of MPV and RDW in the endometrial cancer group were significantly higher than in the endometrial hyperplasia and control groups (p < 0.05).ConclusionSince MPV and RDW are cheap and accessible and can be easily obtained from complete blood count panels, they can be used as suitable diagnostic markers for endometrial cancer. However, conducting comprehensive multicenter prospective studies with a larger sample size can be helpful.

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