Cancer Cell Research (Online ISSN: 2161-2609)

Cancer Cell Research 2019 6(23) 597-601; published online  18 September 2019

Abstract: To investigate the clinical feature and gene mutaiton of Greig cephalopolysyndactyly syndrome (GCPS). The clinical data and the whole exome sequencing results of two patients with GCPS in the same family were retrospectively analyzed. The related literatures were reviewed. The propositus was a 7-month-old girl who manifested a prominent forehead and widely spaced eyes, but have no evident growth developmental retardation. Her mother, 25-year-old, manifested a prominent forehead, macrocephaly, hypertelorism, broad thumbs and halluces in both hands and feet, and scoliosis. A novel missense mutation in GLI3 gene was found by whole exon sequencing of the proband, which caused the 478th amino acid of the GLI3 gene encoded protein which changed from tyrosine to cysteine acid. The GLI3 mutation was identified in his mother by Sanger sequencing. Her father GLI3 gene was normal. The same missense mutation was not retrieved in the HGMD. Reports of the mutation were not found in the previous research. It may be a new mutation. The GCPS is a pleiotropic, multiple congenital anomaly syndrome caused by GLI3 gene mutation or deletion. More than 70 GLI3 gene mutation sites with GCPS had been reported and the most common type was frame shift mutations. Awareness by clinicians of the array of phenotypes manifest in GCPS and gene detection will aid in clinical diagnosis.

Cancer Cell Research 2019 6(23) 602-606; published online  18 September 2019

Abstract: To investigate the clinical, pathological features and prognosis of lymphoma in children. The data of 45 children with malignant lymphoma who were hospitalized during the period from January 2013 to March 2018. The clinical data of 45 children were analyzed. 32 were male and 13 were female. The median age of onset was 10 years. The 27 cases (60%) was in the lymph nodes and 18 cases (40%) was outside the lymph nodes. The extranodal side was common in the abdominal cavity. There was a statistically significant difference between the onset of Hodgkin's lymphoma (HL) and Non-hodgkin's lymphoma (NHL) (p<0.05). Pathological type HL was mainly classical Hodgkin's lymphoma (CHL), and 11 cases of Burkitt lymphoma (BL) in NHL Next, 8 cases of ALK negative large B-cell lymphoma and 6 cases of T-lymphoblastic lymphoma (TLBL). 41 cases (91.1%) were stage III and IV. Hodgkin's lymphoma was positive for Epstein-Barr virus expression, and had different degrees of infection during or after chemotherapy. 5 cases were negative for EB virus expression. Only 1 of the children had infection during chemotherapy. Non-Hodgkin's lymphoma was negative for Epstein-Barr virus expression. Children with malignant lymphoma are mainly NHL, which is more common in male children. The most common pathological types are Burkitt's lymphoma, ALK-internal large B-cell lymphoma and T-lymphoblastic lymphoma. The main site of onset of malignant lymphoma in children is lymph nodes. Hodgkin's lymphoma is associated with EB virus infection.

Cancer Cell Research 2019 6(23) 607-612; published online  18 September 2019

Abstract: Metastasis to the thyroid gland is extremely rare. The aim of this study is to investigate the clinical and pathological features of metastatic carcinomas of the thyroid. The clinical data of 18 patients with thyroid metastatic carcinoma were obtained from the Affiliated Hospital of Qingdao University ranging from January 2010 to January 2019. All clinical records were carefully reviewed, and follow-up was made by telephone. There were 9 males and 9 females in this group. In descending order, the primary lesions were lung adenocarcinoma (6 cases), small-cell lung cancer (5 cases), breast cancer (3 cases), and esophageal squamous cell carcinoma (2 cases), hypopharyngeal cancer (1 case), gingival cancer (1 case). The thyroid metastasis was presented as the main complaint in 3 patients. The interval from the diagnosis of primary tumor to metastasis ranged from 4 months to 16 years. Thyroid metastatic carcinoma is rare, and the present study is one of the largest case series to date. Our study indicates that lung cancer and breast cancer are the two common types of thyroid metastases in China.

Cancer Cell Research 2019 6(23) 613-619; published online  28 September 2019

Abstract: To investigate key candidate genes and potential pathways in Chromophobe renal cell carcinoma by bioinformatic analysis. Apply bioinformatic analysis to screen differentially expressed genes based on RNA sequencing data of chromophobe renal cell carcinoma in the Cancer Genome Atlas database.Cluster the candidate genes on the grounds of functions and signaling pathways. Identify 5663 differentially expressed genes based on bioinformatic analysis and performe 1136 gene ontology terms and 43 pathways. We have access to genetic changes and most of the corresponding genes are involved in ion channels, chemokines and G protein-coupled receptor signaling pathways.

Cancer Cell Research 2019 6(23) 620-627; published online  28 September 2019

Abstract: As an important immune cell, T lymphocytes can recognize the antigenic peptide through the specific T cell receptor on the cell surface, and activate the human acquired immune response. The diversity of T cell antigen recognition receptors determines the host immune response and disease prognosis. It has been reported that congenital Human cytomegalovirus (HCMV) infection causes the immune system to be suppressed in immunodeficient individuals. However, as an important protein of HCMV, whether IE2 plays a key role during HCMV latent infection and whether IE2 will change the TCR library is still unknown. The purpose of this study is discussed the effects of IE2 on TCR library and its diversity. First, UL122 genetically modified mice models that can steadily and continuously express IE2 protein were established. Then, we divided the transgenic mice into two groups, the experimental group (positive mice identified) and control group (negative mice, n=8 in each group). The establishment of UL122 genetically modified mice was identified by PCR technology. We used immunohistochemistry to detect the expression of IE2 in both groups. Flow cytometry was measured the proportion of CD4+ and CD8+T cells. High-throughput T cell receptor sequencing was performed to detect the differences of Vβ and Jβ gene segments and the change of TCR diversity. We found that IE2 was widely expressed in immune organs of experimental mice, and the expression of IE2 affects the distribution of CD4+ and CD8+ T cell. In addition, we first determined the profile of the TCRβ immune repertoire during HCMV latent infection, indicating that the expression of IE2 resulted in remarkably lower TCRβ diversity in peripheral blood T lymphocytes. Taken together, our data suggest that the expression of IE2 gives a rise to aberrant immune microenvironment that affects immune response, and the low diversity of TCR caused by IE2 expression may be a mechanism of HCMV immunosuppression.