Hematologic Neoplasms ; genetics ; Humans ; Proto-Oncogene Proteins B-raf ; genetics

Carcinoma, Adenoid Cystic ; genetics ; Humans ; Oncogene Proteins, Fusion ; genetics

The transcriptional coactivator MN1 has been identified as a gene overexpressed in certain types of human acute myeloid leukemia. Overexpression of this gene is associated with all inv (16) AML, retinoic acid-resistance, a worse prognosis as well as a shorter survival in AML patients with a normal karyotype. This article reviews the role of MN1 in acute myeloid leukemia including MN1 gene structure and action mechanism, MN1-TEL and AML with normal karyotype, MN1 and inv (16) AML, MN1 and retinoic ocid-resistance, and so on.
Humans ; Leukemia, Myeloid, Acute ; genetics ; Oncogene Proteins, Fusion ; genetics ; Transcription Factors ; genetics ; Tumor Suppressor Proteins ; genetics

Female ; Humans ; Protein-Tyrosine Kinases ; Proto-Oncogene Proteins ; Neoplasms, Muscle Tissue/genetics* ; Uterus ; Oncogene Proteins, Fusion/genetics* ; Lung Neoplasms ; Proteins

The Proto-oncogene c-myc and c-myb has been shown to be crucial in the development of the hematopoietic system. The changes in the expression of c-myc are concerned the cell proliferation and differentiation, the expression products of which play an important regulatory role in cell growth, differentiation or malignant transformation. The c-myb involves in transcription and affects cell proliferation, differentiation, apoptosis. More recently, the researches on proto-oncogene c-myc, c-myb in hematopoietic regulation have gradually increased along with development of molecular biology, molecular immunology and cell biology. Scientists point out that the directive differentiation of erythroid and megakaryocytic progenitors, and platelet abnormalities all relate to the level of their expressions. The most common thrombocytopathy includes thrombocytopenia, thrombocytosis and so on. The etiology and the mechanism of these diseases are unknown. This article reviews the structure, function and the expression of c-myc and c-myb in platelet diseases and their significance.
Blood Platelet Disorders ; genetics ; metabolism ; Humans ; Proto-Oncogene Proteins c-myb ; genetics ; metabolism ; Proto-Oncogene Proteins c-myc ; genetics ; metabolism

Myelodysplastic syndrome (MDS) is clonal disorder of hematopoiesis characterized by inefficient hematopoiesis, peripheral blood cytopenias, aberrant differentiation, and risk of progression to acute myeloid leukemia. Although specific karyotypic abnormalities have been found to link to MDS for decades, more recent findings have demonstrated the importance of mutations within individual genes. The recent molecular abnormalities found in MDS include following gene mutation such as TET2, TP53, RUNX1, ASXL1, IDH1/IDH2, EZH2 and RAS. In this review, the recent advances of prognostic molecular markers of MDS and their biological and clinical significance are summarized.
DNA-Binding Proteins ; genetics ; Humans ; Mutation ; Myelodysplastic Syndromes ; diagnosis ; genetics ; Prognosis ; Proto-Oncogene Proteins ; genetics

Glioblastoma ; genetics ; metabolism ; Humans ; Mutation ; Oncogene Proteins ; genetics ; metabolism ; Tumor Suppressor Proteins ; genetics ; metabolism

PURPOSE: To assess the prevalence of KRAS, BRAF, and TP53 mutations in cases of low-grade and high-grade serous carcinomas and to evaluate the clinical outcomes of these morphologically distinct carcinomas. MATERIALS AND METHODS: Patients with primary invasive serous carcinomas were classified according to the universal grading system. Grade 2 serous tumors were excluded. A total of 100 patients were included for clinical evaluation. Thirty-seven patients, including 20 with low-grade and 17 with high-grade carcinomas, were selected for mutational analysis. RESULTS: The low-grade carcinoma group was characterized by young age and premenopausal period compared with the high-grade carcinoma group, but there were no statistically significant differences in stage, metastasis of lymph node and residual disease. There were no statistically significant differences in survival rates, however, the low-grade carcinoma group showed a trend for improved progression-free survival compared with the high-grade carcinoma group of early stage (p = 0.064). Mutations in KRAS and BRAF were found in 6 (30%) and 2 (10%) patients in the low-grade carcinoma group, respectively, however, they were not found in the high-grade carcinoma group. KRAS and BRAF mutations were mutually exclusive, and both mutations were observed in 40% (8/20). The frequency of TP53 mutations in low-grade and high-grade carcinoma groups were found in 20% (4/20) and 70.6% (12/17), respectively (p = 0.009). CONCLUSION: Low-grade serous carcinoma shows mutation pattern different from that with high-grade carcinoma. As there were no significant differences in stage distribution and survival, especially in advanced stage, we suggest that more studies are needed to segregate these patients into distinct disease entities.
Adult ; Cystadenocarcinoma, Serous/*genetics ; DNA Mutational Analysis ; Female ; Humans ; Middle Aged ; Ovarian Neoplasms/*genetics ; Proto-Oncogene Proteins/*genetics ; Proto-Oncogene Proteins B-raf/*genetics ; ras Proteins/*genetics

Adenocarcinoma ; classification ; genetics ; pathology ; Adenocarcinoma, Bronchiolo-Alveolar ; genetics ; pathology ; Exons ; Humans ; Lung Neoplasms ; classification ; genetics ; pathology ; Mutation ; Oncogene Proteins, Fusion ; genetics ; Proto-Oncogene Proteins ; genetics ; Proto-Oncogene Proteins p21(ras) ; Receptor, Epidermal Growth Factor ; genetics ; ras Proteins ; genetics

OBJECTIVETo study the potential transcriptional depression activities of HPV2 E2 proteins with mutations in different functional domains.

METHODSThe primers for constructing various E2 mutants were synthesized based on a HPV2 isolate containing several point mutations within E2 open reading frame. Different E2 mutations were generated by the method of extending PCR and inserted into plasmid pcDNA3. 1. Various recombinant mammalian expression plasmids pcDNA3. 1-E2 were co-transfected into HeLa cells together with a CAT-reporter plasmid pBLCAT-LCR containing HPV-2 prototype LCR, respectively. The transcriptional repression activities of the E2 mutants were evaluated by detection of CAT expression values.

RESULTSCompared with the full-length prototype E2, removals of both N- and C-terminal domains abolished E2 transcriptional repressive activities. The point mutations in the transactivation domain (nt 3037), the internal hinge region (nt 3387) and DNA binding domain (nt 3697) showed remarkable inhibition on its transcriptional depression function.

CONCLUSIONThe transcriptional regulation activity of HPV2 E2 is related with its DNA binding and transactivation domains. The exchanges of the single amino acid within E2, derived from a HPV2 isolate, abolish significantly the repressive effect on viral promoter in the context of full-length E2.

HeLa Cells ; Humans ; Oncogene Proteins, Viral ; genetics ; Papillomaviridae ; genetics ; Promoter Regions, Genetic ; genetics ; Transcriptional Activation ; genetics