OBJECTIVETo investigate the spectrum of β -thalassemia mutations in Guizhou Province.

METHODSFor 542 individuals suspected to have β -thalassemia by decreased mean corpuscular volume (MCV) and corpuscle hemoglobin (MCH) by routine blood test and hemoglobin electrophoresis, reverse dot blot hybridization (RDB) was performed to detect 17 known β -thalassemia mutations, including 8 common and 9 rare mutations. For cases where no mutation was identified, the entire human β -globin gene was screened to find other rare mutations. The distribution and frequencies of detected β -thalassemia mutations were then analyzed.

RESULTSA total of 460 individuals were diagnosed as β -thalassemia by DNA analysis, which included 352 heterozygotes, 67 compound heterozygotes and 41 mutant homozygotes. A total of 12 β -thalassemia mutations were detected in these individuals. The mutations have ranked from high to low frequency as: CD17 (40.74%), CD41-42 (33.69%), IVS-II-654 (13.76%), -28 (3.70%), β E (3.35%), CD71-72(1.94%), CD43 (1.06%), IVS-I-1 (0.71%), CD27-28 (0.35%), -29(0.35%), CAP (0.18%), and CD121 (0.18%). The former six mutations have accounted for 97.18% of all. CD121 (GAA> TAA) detected from a heterozygote, as a dominant mutation, has been firstly found in the Chinese population.

CONCLUSIONThe spectrum of β -thalassemia in Guizhou Province showed certain distinct characteristics, with CD17 being the most common mutation. The newly discovered mutation of CD121 has expanded the spectrum of β -thalassemia in Chinese population. Our result may provide valuable information for the prevention and control of β -thalassemia in Guizhou.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Leukosialin ; genetics ; Male ; Middle Aged ; Mutation ; Platelet Membrane Glycoprotein IIb ; genetics ; Receptors, Interleukin-1 Type I ; genetics ; Young Adult ; beta-Globins ; genetics ; beta-Thalassemia ; diagnosis ; ethnology ; genetics

OBJECTIVETo study the clinicopathologic features, immunohistochemical findings, differential diagnosis and prognosis of type II enteropathy-associated T-cell lymphoma (EATL).

METHODSFourteen cases of type II EATL encountered in Department of Pathology, Nanjing General Hospital were retrospectively reviewed. The clinical data, histologic features, immunohistochemical findings and follow-up information were analyzed, with literature review.

RESULTSThere were altogether 12 males and 2 females. The median age of patient was 49 years. The sites of involvement included jejunum (10 cases) and ileum/colon (4 cases). The patients often presented with an abdominal mass, abdominal pain, diarrhea and constitutional symptoms such as fever, night sweating and cachexia. There was no clinical evidence of gluten-sensitive enteropathy. Histologically, the lymphoma cells showed full-thickness infiltration of the intestinal wall. They contained round hyperchromatic nuclei and pale cytoplasm. The stroma was minimally inflamed, with or without associated coagulative necrosis. A remarkable finding was the presence of villous atrophy, cryptal hyperplasia and intraepithelial lymphocytosis. Immunohistochemical study showed that the tumor cells expressed CD3, CD43 and CD8 (14/14). Some of them were also positive for CD56 (11/14) and CD30 (2/14). The staining for CD4, CD20, CD79a and myeloperoxidase was negative. A high proliferation index was demonstrated by Ki-67 immunostain. In-situ hybridization for EBER was negative. Follow-up data were available in 9 cases. The duration of follow-up ranged from 6 months to 36 months. Seven patients died within 14 months.

CONCLUSIONSEATL is a rare type of lymphoma with intestinal involvement. Associated enteropathy is not demonstrated, in contrast to cases encountered in Nordic countries. A correct diagnosis requires evaluation of clinical manifestations, pathologic features and ancillary study results.

Adolescent ; Adult ; Aged ; CD3 Complex ; metabolism ; CD8 Antigens ; metabolism ; Diagnosis, Differential ; Enteropathy-Associated T-Cell Lymphoma ; genetics ; immunology ; pathology ; surgery ; Female ; Follow-Up Studies ; Gene Rearrangement, T-Lymphocyte ; Humans ; Ileal Neoplasms ; genetics ; immunology ; pathology ; surgery ; Jejunal Neoplasms ; genetics ; immunology ; pathology ; surgery ; Leukosialin ; metabolism ; Lymphoma, B-Cell, Marginal Zone ; metabolism ; pathology ; Lymphoma, Extranodal NK-T-Cell ; metabolism ; pathology ; Lymphoma, Large B-Cell, Diffuse ; metabolism ; pathology ; Male ; Middle Aged ; Retrospective Studies ; Young Adult

OBJECTIVETo study the clinicopathologic features, diagnosis and differential diagnosis of intestinal natural killer (NK)/T-cell lymphoma.

METHODSThe clinical features, histopathology, immunohistochemical findings and follow-up data of 14 cases of intestinal NK/T-cell lymphoma were retrospectively reviewed.

RESULTSThe male-to-female ratio was 9:5. The medium age of patients was 45 years. The sites of involvement included small intestine (6 cases), colon (6 cases) or both (2 cases). The main clinical manifestations were an abdominal mass, other gastrointestinal symptoms such as abdominal pain, as well as systemic symptoms such as fever and cachexia. Intestinal perforation complicated by acute peritonitis might occur in advanced disease. Histologically, the intestinal wall showed full-thickness infiltration by medium-sized atypical lymphoid cells with pleomorphic nuclei, prominent inflammatory background, angiocentric/angiodestructive growth pattern and coagulative necrosis. Immunohistochemical study showed that the tumor cells were positive for CD3ε, CD43, CD56, granzyme B and perforin. They were negative for CD20, CD79α and MPO. In-situ hybridization for Epstein-Barr virus encoded RNA (EBER) showed negative signals. A high proliferative index was demonstrated by Ki-67 immunostaining. Follow-up data of 8 cases were available, with duration of follow up ranging from 0.5 to 36 months. Five patients died within 20 months.

CONCLUSIONSExtranodal NK/T-cell lymphoma, nasal-type primarily involving intestine is rare and tends to carry an aggressive clinical course. The relatively non-specific clinical manifestations of intestinal NK/T-cell lymphoma may result in misdiagnosis in some cases. A comprehensive evaluation of clinical manifestations, pathologic features and immunohistochemical findings is essential for definitive diagnosis.

Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; CD3 Complex ; metabolism ; CD56 Antigen ; metabolism ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Granzymes ; metabolism ; Humans ; Intestinal Neoplasms ; drug therapy ; metabolism ; pathology ; surgery ; Intestines ; pathology ; Ki-67 Antigen ; metabolism ; Leukosialin ; metabolism ; Lymphoma, Extranodal NK-T-Cell ; drug therapy ; metabolism ; pathology ; surgery ; Male ; Middle Aged ; Perforin ; metabolism ; Retrospective Studies ; Treatment Outcome ; Young Adult

BACKGROUNDPrevious studies indicate that CD43 plays a role in regulating the adhesion of lymphocytes, cell mutation and activation, however, little is known about its effect on systemic lupus erythematosus (SLE). This study was designed to explore the clinical significance of CD43 in SLE patients.

METHODSWe used microarray and real-time PCR to detect the mRNA and protein expression of magnetic bead sorted T cells and B cells from peripheral blood mononuclear cells (PBMCs) of SLE patients, and analyzed the relationship between CD43 and the clinical indexes.

RESULTSBoth microarray and real-time PCR results showed that CD43 mRNA was significantly decreased in PBMCs of SLE patients compared with healthy controls (P < 0.001). There were no significant differences between lupus nephritis and non-lupus nephritis patients, and neuropsychiatric and non-neuropsychiatric patients. CD43 mRNA expression was significantly reduced in T cells but not in B-cells in SLE patients compared to healthy controls (P < 0.01). Compared with healthy controls, the percentage of CD43(+) cells in the PBMCs of SLE was significantly decreased (P = 0.004), and the CD43 fluorescence intensity in CD3(+)/CD43(+) cells and CD19(+)/CD43(+) cells was also significantly weaker than in healthy controls (P = 0.039 and 0.003). There was no significant difference in the percentage of CD3(+)/CD43(+) cells, CD19(+)/CD43(+) cells between the two groups. The CD43 fluorescence intensity in CD3(+)/CD43(+) cells was inversely correlated with the levels of IgG and IgM (r = -0.8 and -0.6).

CONCLUSIONSCompared to healthy controls, both CD43 mRNA and protein expressions were reduced in T cells from patients with SLE, and were inversely correlated with IgG.

B-Lymphocytes ; immunology ; metabolism ; Humans ; Leukocytes, Mononuclear ; Leukosialin ; genetics ; metabolism ; Lupus Erythematosus, Systemic ; immunology ; metabolism ; Oligonucleotide Array Sequence Analysis ; Real-Time Polymerase Chain Reaction ; T-Lymphocytes ; immunology ; metabolism

OBJECTIVETo investigate the clinical and pathological features, differential diagnosis of granulocytic sarcoma.

METHODSThe clinical manifestations, histopathological features, immunohistochemistry, treatment and prognosis were analyzed retrospectively in 10 cases of granulocytic sarcoma.

RESULTSThe age of patients ranged from 10 to 56 years (means = 35.8 years). The male-to-female ratio was 1.5:1. Histologically, the malignant cells of granulocytic sarcoma grew in a diffuse pattern. The cytoplasm was scanty, with eosinophilic fine granularity in some cells. The nuclei were round or focally irregular, and had finely dispersed chromatin. The mitotic figures were visible. Immunohistochemical stains for MPO, CD43, CD117, CD34 and CD99 were positive.

CONCLUSIONSGranulocytic sarcoma can occur in patients of all ages with a male predominance. The diagnosis of granulocytic sarcoma is assisted by the cytochemical stain for naphthol-ASD-chloroacetate esterase and/or immunophenotypic analyses for MPO, CD43, CD117, CD34, CD99. These stains aid in the distinction of granulocytic sarcoma from: lymphoblastic lymphoma, Burkitt lymphoma, diffuse large B-cell lymphoma, small round cell tumours, particularly in children, and blastic plasmacytoid dendritic cell neoplasm.

12E7 Antigen ; Adolescent ; Adult ; Antigens, CD ; metabolism ; Antigens, CD34 ; metabolism ; Burkitt Lymphoma ; metabolism ; pathology ; Cell Adhesion Molecules ; metabolism ; Child ; Dendritic Cells ; metabolism ; pathology ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Leukosialin ; metabolism ; Lymphoma, Large B-Cell, Diffuse ; metabolism ; pathology ; Male ; Middle Aged ; Peroxidase ; metabolism ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; metabolism ; pathology ; Proto-Oncogene Proteins c-kit ; metabolism ; Retrospective Studies ; Sarcoma, Myeloid ; metabolism ; pathology ; Skin Neoplasms ; metabolism ; pathology ; Young Adult

Aged, 80 and over ; Antigens, CD20 ; metabolism ; CD79 Antigens ; metabolism ; Diagnosis, Differential ; Humans ; Interferon Regulatory Factors ; metabolism ; Ki-67 Antigen ; metabolism ; Leukosialin ; metabolism ; Lymphoma, Large B-Cell, Diffuse ; metabolism ; pathology ; surgery ; Male ; Neoplasms, Muscle Tissue ; metabolism ; pathology ; Prostatic Neoplasms ; metabolism ; pathology ; surgery ; Prostatitis ; metabolism ; pathology ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; Receptor Protein-Tyrosine Kinases ; metabolism

Adult ; Diagnosis, Differential ; Female ; Gastrectomy ; methods ; Gastrointestinal Stromal Tumors ; metabolism ; pathology ; Humans ; Ki-1 Antigen ; metabolism ; Leukocyte Common Antigens ; metabolism ; Leukosialin ; metabolism ; Lymphoma, Large-Cell, Anaplastic ; metabolism ; pathology ; surgery ; Melanoma ; metabolism ; pathology ; Mucin-1 ; metabolism ; Receptor Protein-Tyrosine Kinases ; metabolism ; Stomach Neoplasms ; metabolism ; pathology ; surgery

OBJECTIVETo study the clinicopathologic features of granulocytic sarcoma.

METHODSThe clinical and pathologic findings of 38 cases of granulocytic sarcoma were retrospectively analyzed. Immunohistochemical study was performed and the literature was reviewed.

RESULTSThe age of patients ranged from 2 to 77 years (mean = 43.3 years). The male-to-female ratio was 1.5:1. Major clinical presentations included superficial lymph node enlargement and painful soft tissue mass. Follow-up data were available in 18 patients; and 14 of them died of tumor-related diseases. The average duration of survival of the patients was 16.9 months. Histologically, the tumor cells were relatively uniform in appearance and small to medium in size. The cytoplasm was scanty and pale in color. The nuclei were round or focally irregular, with fine chromatin and inconspicuous nucleoli. Mitosis figures were readily identified. Scattered immature eosinophilic myelocytes were seen. Immunohistochemical study showed that the tumor cells in all cases expressed MPO and CD43. Most cases were also positive for CD68, lysozyme, CD99 and TdT. The staining for CD3, CD20, CD79a, pan-cytokeratin and PLAP were negative.

CONCLUSIONSGranulocytic sarcoma is a known histologic mimicker of non-Hodgkin lymphoma, Ewing sarcoma/PNET and embryonal rhabdomyosarcoma. Detailed morphologic examination, when coupled with immunohistochemical study, is useful in arriving at a correct diagnosis.

Adolescent ; Adult ; Aged ; Burkitt Lymphoma ; metabolism ; pathology ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Leukosialin ; metabolism ; Lymph Nodes ; pathology ; Male ; Middle Aged ; Muscle Neoplasms ; drug therapy ; metabolism ; pathology ; surgery ; Ovarian Neoplasms ; drug therapy ; metabolism ; pathology ; surgery ; Peroxidase ; metabolism ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; metabolism ; pathology ; Retrospective Studies ; Sarcoma, Ewing ; metabolism ; pathology ; Sarcoma, Myeloid ; drug therapy ; metabolism ; pathology ; surgery ; Skin Neoplasms ; drug therapy ; metabolism ; pathology ; surgery ; Survival Rate ; Young Adult

Adult ; Carcinoma, Small Cell ; metabolism ; pathology ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Hysterectomy ; Leukosialin ; metabolism ; Lymphoma ; metabolism ; pathology ; Peroxidase ; metabolism ; Sarcoma, Myeloid ; metabolism ; pathology ; surgery ; Uterine Cervical Neoplasms ; metabolism ; pathology ; surgery ; Uterine Cervicitis ; metabolism ; pathology

CD3 Complex ; metabolism ; CD5 Antigens ; metabolism ; Diagnosis, Differential ; Female ; Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor ; Humans ; Leukocyte Common Antigens ; metabolism ; Leukosialin ; metabolism ; Lymphoma, T-Cell, Cutaneous ; metabolism ; pathology ; Middle Aged ; Skin Diseases ; pathology