T-cell acute lymphoblastic leukemia (T-ALL) is the hematological malignancy of bone marrow characterized by the rapid proliferation and subsequent accumulation of immature T lymphocyte and mainly occurs in children and adolescents. In 1991, a kind of activating mutation of Notch 1 was found in a subset of T-ALL with chromosomal translocation t(7;9) for the first time. During the past 20 years since then, understanding of the relationship between Notch 1 activating mutation and T-ALL has been deepened and widened. This review briefly discusses the four main subtypes of Notch 1 activating mutations, also focuses on how these mutations change the normal signaling pathways and genes expression during their participation in the pathogenesis of T-ALL, and how these insights will promote the development of newly targeting therapies for patients with this aggressive form of leukemia.
Humans ; Mutation ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma ; etiology ; genetics ; Receptor, Notch1 ; genetics

Mucosa-associated lymphoid tissue (MALT) lymphoma originated outside the lymph nodes is low grade malignant B cell lymphoma. It is the most frequent type of marginal zone non-Hodgkin's lymphoma, that usually occurs in the stomach, salivary gland, thyroid gland and orbital adnexa. Gastric MALT lymphoma accounts for 50% of MALT lymphoma. Gastric MALT lymphoma has been confirmed to relate with Helicobacter pylori (HP) infection, its main pathogenesis is immune reaction, but some patients with chromosome translocation have no response to HP eradication, suggesting presence of other unknown pathogenesis. The chromosome translocations in MALT lymphoma are t(11;18)(q21;q21), t(1;14)(p22;q32), t(14;18)(q32;q21), t(3;14)(p14.1;q32). Recent studies show some new chromosomal abnormalities such as 6q23.3/A20 and so on, which have some effects on clinical course and prognosis. MALT lymphoma with chromosome abnormalities usually activate common NF-κB molecular pathway, and persistent active NF-κB pathway drives tumor cell proliferative and active, resulting in lymphoma incidence. In this article, the advances in the etiology and pathogenesis of MALT lymphoma were reviewed.
Humans ; Lymphoma, B-Cell, Marginal Zone ; etiology ; genetics ; pathology ; Translocation, Genetic

Ataxia Telangiectasia ; complications ; genetics ; Child ; Female ; Humans ; Lymphoma ; etiology ; Male ; Sibling Relations

OBJECTIVETo study the relationship between glutathione S-transferase genes GSTT1 and GSTM1 polymorphisms and the susceptibility to infectious mononucleosis (IM) and acute lymphocytic leukemia (ALL) in children.

METHODSThe case-control study involved 106 children with IM, 41 children with ALL and a control group of 100 children with non-hematologic and nontumorous diseases. The genetic polymorphisms of GSTT1 and GSTM1 were detected with multiplex polymerase chain reaction (PCR). Distribution of the genotypes in the children was analyzed.

RESULTSThe frequency of GSTT1 null genotype in children with IM was significantly higher than in the control group (P<0.05). The risk of IM in children carrying GSTT1 null genotype was 2.186 times higher than in those carrying GSTT1 non-null genotype. The children carrying both GSTT1 and GSTM1 null genotype had a higher risk of suffering from IM compared to those carrying only one of the null genotypes (OR=4.937). The frequency of GSTM1 null genotype in children with ALL was significantly higher than in the control group (P<0.05). The risk of ALL in children carrying GSTM1 null genotype was 2.242 times higher than in those in carrying GSTT1 non-null genotype. Children carrying both GSTT1 and GSTM1 null genotype had a higher risk of suffering from ALL compared with those carrying only one of the null genotypes (OR=8.552).

CONCLUSIONSChildren carrying GSTT1 or GSTM1 null genotype have a high risk of suffering from IM or ALL. Still more increased susceptibility to IM or ALL may occur in children who carry both GSTT1 and GSTM1 null genotype. GSTT1 and GSTM1 might play a potential role in the pathogenesis of both IM and ALL.

Adolescent ; Child ; Child, Preschool ; Female ; Glutathione Transferase ; genetics ; Humans ; Infant ; Infectious Mononucleosis ; etiology ; genetics ; Male ; Polymorphism, Genetic ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; etiology ; genetics

OBJECTIVETo improve the understanding of severe hypercalcemia complicated in acute lymphoblastic leukemia (ALL) with E2A-HLF fusion gene, and to explore the mechanism of pathogenesis and the relationship between the special gene translocation and severe hypercalcemia.

METHODSTwo patients with severe hypercalcemia complicated in ALL were reported.

RESULTSTwo patients with E2A-HLF fusion gene, which is generated by t(17;19) (q22, p13) translocation, suffered relapse of leukemia three months after chemotherapy, and developed severe hypercalcemia. After further chemotherapy, the hypercalcemia symptoms were corrected or alleviated.

CONCLUSIONSevere hypercalcemia is one of rare complications of ALL. In B cell lymphoblastic leukemia with E2A-HLF fusion gene, the fusion gene showed be closely monitored for evaluating the disease situation.

Child ; DNA-Binding Proteins ; genetics ; Female ; Humans ; Hypercalcemia ; etiology ; genetics ; Infant ; Male ; Oncogene Proteins, Fusion ; genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; complications ; genetics ; Prognosis ; Transcription Factors ; genetics

Chromosome Aberrations ; Combined Modality Therapy ; Humans ; Killer Cells, Natural ; pathology ; Lymphoma, T-Cell ; etiology ; genetics ; pathology ; therapy ; Nose Neoplasms ; etiology ; genetics ; pathology ; therapy ; Prognosis

Adolescent ; Gene Rearrangement ; Humans ; Leukemia, Myeloid, Acute ; etiology ; genetics ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; complications ; genetics ; Receptor, Platelet-Derived Growth Factor beta ; genetics

Many diseases cause bone marrow necrosis (BMN), especially lymphocytic leukemia. To explore the complexity of the pathogenesis and pathology of BMN and understand the multiplicity of clinical features, a case of Philadelphia chromosome positive (Ph+) B acute lymphoblastic leukemia (ALL) expressing myeloid antigens was reported. The results indicated that the clinical features of this case were complicated and multiplex, the diagnosis was confirmed by using bone marrow smear and biopsy, immunophenotype analysis, conventional cytogenetics and fluorescence in situ hybridization (FISH), the prognosis of patients improved by active treatment for primary disease. In conclusion, the Ph+ B ALL expressing myeloid antigen with BMN is very rare, its diagnosis should be confirmed by using multiple methods, and the active treatments should be performed.
Adult ; Antigens, Neoplasm ; blood ; Bone Marrow ; pathology ; Bone Marrow Diseases ; etiology ; Burkitt Lymphoma ; complications ; genetics ; immunology ; Female ; Humans ; Immunophenotyping ; Necrosis ; etiology ; Philadelphia Chromosome

Fusion Proteins, bcr-abl ; genetics ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; complications ; genetics ; Male ; Middle Aged ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; etiology

OBJECTIVEThis article aimed to review the biological characteristics of enhancer of zests homolog 2 (EZH2), and the transcriptional repression mechanism of action of EZH2 in tumors, particularly in the progression of lymphoma.

DATA SOURCESThe data cited in this review were mainly obtained from the articles listed in PubMed and HighWare that were published from March 2004 to April 2012. The search terms were "enhancer of zests homolog 2", "polycomb group", and "lymphoma".

STUDY SELECTIONArticles regarding the mechanism of EZH2 in post-transcriptional modification, functions of polycomb group proteins, and the roles of EZH2 in lymphoma were selected.

RESULTSEZH2 acts as oncogene and involved in many kinds of tumors. Moreover, it plays an important role in tumorigenesis and lymphomagenesis by promoting the proliferation and aggressiveness of neoplastic cells, facilitating malignant tumor cell diffusion, and mediating transcriptional silencing.

CONCLUSIONEZH2 mediated transcriptional repression through its methyltransferase activity at the chromatin level has certain influence on lymphoma, and there might exist a therapeutic window for the development of new agents and identification of novel diagnostic markers based on EZH2.

Disease Progression ; Enhancer of Zeste Homolog 2 Protein ; Epigenesis, Genetic ; Histones ; metabolism ; Humans ; Lymphoma ; etiology ; genetics ; Methylation ; Mutation ; Polycomb Repressive Complex 2 ; genetics ; physiology