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Objective@#To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.@*Methods@#Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters.@*Results@#The fetus was found to harbor a c. 1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida.@*Conclusion@#Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.
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Purpose To investigate the clinicopathologic features of RELA fusion-positive ependymoma. Methods The clinical manifestations, radiological appearance, pathological and immunohistochemical findings and immunophenotype in 11 cases of RELA fusion-positive ependymoma were retrospectively analyzed, and the related literature was reviewed. Results Eleven cases of RELA fusion-positive ependymomas occured in the supratentorial region. There were 6 males and 5 females ranged in age from 3-56 years (median = 27). Imaging showed the occupying lesion in the supratentorial region. Histologically, a distinctive branching network of delicate capillaries and (true) ependymal rosettes/pseudorosettes were observed. Immunohistochemically, the tumor cells were diffusely positive for GFAP, L1 CAM and Cyclin D1, and EMA staining with dot-like cytoplasmic reactivity were observed. Most of the cases showed a positive for nestin, but all of the cases showed negative for Olig-2. Conclusion RELA fusion-positive ependymomas usually affect the supratentorial region of young people, which have unique immunophenotype and gene phenotype, and are characterized by poor prognosis. This type of ependymoma should be identified in the diagnosis and differential diagnosis.
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Objective To investigate the molecular mechanism of Ezrin in promoting human lung cancer metastasis.Methods The expression of Ezrin in lung cancer cell lines was detected by using RT-PCR and western blot;the cell scratch test was used to detect the effect of Ezrin on the migration ability of lung cancer cells;the mechanism of Ezrin for regulating L1CAM was detected by western blot.Results The western blot detection results showed that compared with the low metastatic lung cancer cell line H460 and EBC-1,the expression of Ezrin protein the high metastatic lung cancer cell line 95D and PC9 were higher (P＜0.05).After silencing the expression of Ezrin in 95D cells (siEzrin-95D) by using the genetic method,the cell scratch test showed that the migration ability of siEzrin-95D cells was significantly weakened compared with 95D cells (P＜0.05).Compared with 95D cells and H460 cells,after genetically silencing the Ezzin expression in 95D and H460 cells,the L1CAM expression was significantly down-regulated (P＜0.05).Conclusion Ezrin promotes lung cancer metastasis possibly by regulating the expression of L1CAM.
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Pancreatic cancer has the highest mortality among malignant cancers. Known asthe king of cancer,it lacks early symp-toms, diagnostic methods and oncologic markers. Early lymph node metastasis could be found in this disease. Moreover, advanced panereatic cancer is incurable by surgery. Due to the limited efficacy of surgery, as well as radiotherapy and chemotherapy tolerance, therapeutic methods for pancreatic cancer are being explored. L1 cell adhesion molecule (L1CAM) is a member of the cell adhesion molecule inmunoglobulin (Ig) super family that is usually expressed in normal developing nervous tissues. L1CAM is highly expressed in pancreatic cancer cells, binds withα5-integrin to activate downstream factors that mediate tumor metastasis and invasion via the TGF-β1/JUK/slug signaling pathway, induces epithelium-mesenchymal transition, and resists chemotherapy drugs. However, L1CAM forms abnormal vessels that increase the invasiveness of pancreatic cancer cells. This abnormal L1CAM expression in pancreatic can-cer cells is a new therapeutic target in pancreatic cancer treatment. Therefore, future studies on L1CAM could promote the develop-ment of pancreatic cancer therapy and provide new treatment methods.
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L1 cell adhesion molecule (L1CAM) is a 220-kDa type I membrane glycoprotein and is normally expressed in neuronal cells, endothelial cells, and renal epithelial cells. Recent clinical studies demonstrated aberrant L1CAM expression in various cancers, especially at the invasive area of cancers. L1CAM has a key role in tumorigenesis, tumor invasion, and it is associated with a poor prognosis of cancer. Anaplastic thyroid carcinoma (ATC) has a highly poor outcome and it is resistant to conventional treatment. In this review, I discuss the biological role of L1CAM in proliferation, migration, and invasion in the ATC.
Subject(s)
Cell Transformation, Neoplastic , Endothelial Cells , Epithelial Cells , Membrane Glycoproteins , Neural Cell Adhesion Molecule L1 , Neurons , Prognosis , Thyroid NeoplasmsABSTRACT
BACKGROUND : Mental health is an essential ingredient in the quality of life. Recent studies carried out in countries like Germany, USA, France, England and Belgium have provided evidence for the involvement of L1 (CAM) mutations in various X-linked mental retardation syndromes. L1 CAM is a neural cell adhesion molecule belonging to the superfamily of the immunoglobulins and is critical for proper CNS development in humans. AIM: This study was aimed to screen idiopathic mental retardation cases for L1 CAM mutations. MATERIALS AND METHODS : In this study, we screened 15 cases with mental retardation. Genomic DNA from the patients and control subjects was analyzed by polymerase chain reaction using specific primers. RESULTS : In 2 out of 15 patients, mutation was detected between exon 26 and 27. CONCLUSION : It is worthwhile to screen idiopathic mental retardation cases for L1 CAM mutations to reduce genetic morbidity in the population by offering genetic counseling and prenatal diagnosis.
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L1 cell adhesion molecular is a type Ⅰ membrane glycoprotein of immunoglobulin superfamily. L1 is expressed mainly in nervous system and plays important roles in nervous system development, learning and memory. L1 cytoplasmic domain (L1CD) is important for L1 function by mediating signaling. To investigate the molecular mechanisms of signaling mediated by L1CD, yeast two-hybrid assay was carried out to screen the human brain cDNA library using L1CD as the bait. After sequence analysis and BLAST, several candidates were identified. One candidate is PAX6 transcription factor. L1CD and PAX6 cDNA were cloned in expression vectors and cotransfected into COS-7 cells. The interaction between L1CD and PAX6 was verified by co-immunoprecipitation assay. These preliminary results suggest that L1CD may be involved in transcription regulation.