Monoclonal immunoglobulin deposition disease is rare in medical practice. The light and heavy chain deposition disease is characterized by deposition of monoclonal antibodies in the basement of membrane. Kidney is the most frequently involved organ. There was a male patient diagnosed as light and heavy chain deposition disease in department of Nephrology of the Second Xiangya Hospital, Central South University by renal biopsy. After treatment by oral prednisone, melphalan and thalidomide, the patient's proteinuria and serum creatinine decreased. The retrospective analysis of this case provides a guide for doctors to understand the light and heavy chain deposition disease. Early diagnosis and treatment could improve the prognosis.
Antibodies, Monoclonal ; adverse effects ; Basement Membrane ; physiopathology ; Biopsy ; Creatinine ; blood ; Heavy Chain Disease ; diagnosis ; drug therapy ; Humans ; Immunoglobulin Light Chains ; Kidney ; physiopathology ; Male ; Proteinuria

OBJECTIVETo investigate the cell features of 6 Castleman's disease patients and evaluate their prognosis.

METHODSThe resected tumors were investigated by routine histopathology and immunohistochemistry. Reverse-transcript PCR (RT-PCR) and sequencing of RT-PCR products were used to assess the clonal characters of the main tumor cells.

RESULTSHistologically, all of the 6 tumors were classified as the hyaline vascular type. B-cells dominated the follicular germinal centers, with T-cells dispersing inter-follicularly. The results of RT-PCR each obtained a single band of either 128 bp or 122 bp and sequencing showed that there was highly homogeneity within the same length sequences, accompanied by fewer different nucleotide acids.

CONCLUSIONMonoclonal and/or oligoclonal B cells were identified in Castleman's disease. These B cells were originated from germinal center cells.

Adolescent ; Adult ; Antigens, CD20 ; analysis ; B-Lymphocytes ; metabolism ; pathology ; Castleman Disease ; genetics ; metabolism ; pathology ; Clone Cells ; Female ; Gene Rearrangement, B-Lymphocyte, Heavy Chain ; genetics ; Humans ; Immunohistochemistry ; Leukocyte Common Antigens ; analysis ; Male ; Prognosis ; Reverse Transcriptase Polymerase Chain Reaction

Castleman Disease ; genetics ; pathology ; surgery ; Diagnosis, Differential ; Female ; Gene Rearrangement, B-Lymphocyte, Heavy Chain ; Humans ; Hyperplasia ; Lung ; pathology ; surgery ; Lung Diseases ; genetics ; pathology ; surgery ; Lymph Nodes ; pathology ; Middle Aged

OBJECTIVETo explore the relationship between electrocardiographic (ECG) and genetic mutations of patients with hypertrophic cardiomyopathy (HCM), and early ECG changes in HCM patients.

METHODSClinical, 12-lead ECG and echocardiographic examination as well as genetic examinations were made in a three-generation Chinses HCM pedigree with 8 family members (4 males). The clinical characterization and ECG parameters were analyzed and their relationship with genotypes in the family was explored.

RESULTSFour missense mutations (MYH7-H1717Q, MYLK2-K324E, KCNQ1-R190W, TMEM70-I147T) were detected in this pedigree. The proband carried all 4 mutations and 5 members carried 2 mutations. Corrected QTc interval of KCNQ1-H1717Q carriers was significantly prolonged and was consistent with the ECG characterization of long QT syndrome. MYLK2-K324E and KCNQ1-R190W carriers presented with Q wave and(or) depressed ST segment, as well as flatted or reversed T waves in leads from anterolateral and inferior ventricular walls. ECG results showed ST segment depression, flat and inverted T wave in the gene mutation carriers with normal echocardiographic examination results. ECG and echocardiographic results were normal in TMEM70-I147T mutation carrier.

CONCLUSIONSThe combined mutations of the genes associated with cardiac ion channels and HCM are linked with the ECG phenotype changes in this HCM pedigree. The variations in ECG parameters due to the genetic mutation appear earlier than the echocardiography and clinical manifestations. Variation in ECG may become one of the indexes for early diagnostic screening and disease progression of the HCM gene mutation carriers.

Brugada Syndrome ; Cardiac Conduction System Disease ; Cardiac Myosins ; Cardiomyopathy, Hypertrophic ; Echocardiography ; Electrocardiography ; Exons ; Genetic Testing ; Genotype ; Humans ; KCNQ1 Potassium Channel ; Long QT Syndrome ; Mutation ; Mutation, Missense ; Myosin Heavy Chains ; Myosin-Light-Chain Kinase ; Pedigree ; Phenotype

Child ; Humans ; Immunoglobulin A ; blood ; Immunoproliferative Small Intestinal Disease ; diagnosis ; drug therapy ; etiology ; Male

OBJECTIVETo evaluate the role of cytogenetic study and interphase FISH analysis in differential diagnosis of patients with clinical and/or cytological diagnosis as lymphoma or "suspicious for lymphoma".

METHODSRoutine histology, immunohistochemistry, cytogenetics and interphase FISH studies were used to assess 223 cases with superficial lymph nodes of not less than 1. 5 cm in diameter. The probe used in the interphase FISH assays is the Vysis' LSI IGH Dual Color, Break Apart Rearrangement Probe.

RESULTSBased on these studies, forty-four patients were diagnosed as Hodgkin's lymphomas ( HL) , 162 as Non-Hodgkin's lymphomas ( NHL) , 11 with benign diseases and 4 as other malignancies, while the remaining 2 cases were discarded due to tissue necrosis. Using interphase FISH, abnormalities of immunoglobulin heavy chain gene (IGH) were detected in 6/44 (13.6%) and 83/162 (51.2%) in the HIL and NHL cases, respectively, while none was observed in 11 cases with a benign disease (P <0. 001). Combining cytogenetics and FISH studies, the detection rates for HL and NHL cases then increased to 15.9% and 77. 8%, respectively, otherwise, 3 of whom could not have made definite diagnosis.

CONCLUSIONInterphase FISH assay is a rapid and sensitive tool for detecting IGH abnormalities. Both cytogenetics and interphase FISH analyses may play a significant role in diagnosis of lymphomas.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Chromosome Aberrations ; Cytogenetic Analysis ; Diagnosis, Differential ; Female ; Genes, Immunoglobulin Heavy Chain ; genetics ; Hodgkin Disease ; diagnosis ; genetics ; metabolism ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; methods ; Interphase ; genetics ; Lymphoma, Non-Hodgkin ; diagnosis ; genetics ; metabolism ; Male ; Middle Aged ; Proto-Oncogene Proteins c-bcl-2 ; analysis ; Pseudolymphoma ; diagnosis ; genetics ; metabolism ; Sarcoidosis ; diagnosis ; genetics ; metabolism

OBJECTIVETo study the differential diagnosis between nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) and T-cell/histiocyte-rich B-cell lymphoma (TCRBCL).

METHODS15 cases of NLPHL and 16 cases of TCRBCL were studied on both morphology and immunophenotype according to the WHO classification of lymphoid neoplasms. SP-immunohistochemical staining were performed on paraffin sections. In situ hybridization for EBER1/2 and gene rearrangement of immunoglobulin heavy chain (IgH) were carried out in 3 cases of NLPHL and 4 cases of TCRBCL, respectively.

RESULTSHistologically, a few atypical large cells scattered in a background of small lymphocytes with or without histiocytes were a common finding in both NLPHL and TCRBCL. Of NLPHL, nodular pathern predominated in 11 cases, diffuse patterns without nodules in 3 cases and one case showed nodular and diffuse pattern intermixed with a increased number of large cells. 14 cases of TCRBCL showed diffuse pattern. One case with micronodular pattern involving the splenic white pulp. One case showed a combination of nodules of NLPHL, diffuse areas of TCRBCL and a sheet of large cells of diffuse large B-cell lymphoma (DLBCL) within the same lymph node biopsy specimen. Immunophenotypically, the large cells showed and CD20, CD79a, bcl-6 and EMA positive, and CD15, CD30, CD3, CD45RO and LMP-1 negative. In NLPHL, small B cells and CD57 positive cells were common, whereas in TCRBCL, TIA-1 positive cytotoxic cells and histiocytes dominated, small B cells were scarce or absent. EBER1/2 were negative and gene rearrangement of IgH was found in all tested 3 cases of NLPHL and 4 cases of TCRBCL, respectively.

CONCLUSIONThere are some morphologic and immunophenotypic resemblance between NLPHL and TCRBCL. A combination of the morphological characteristics and the reactivity of the background cells for CD57 and TIA-1 seem to reliably discriminate between the entities and should therefore help to increase the interobserver reproducibility of diagnosis in the gray zone around Hodgkin lymphomas.

Adolescent ; Adult ; Aged ; Antigens, CD20 ; metabolism ; CD57 Antigens ; metabolism ; Child ; Diagnosis, Differential ; Female ; Gene Rearrangement, B-Lymphocyte, Heavy Chain ; Hodgkin Disease ; genetics ; immunology ; pathology ; Humans ; Immunophenotyping ; Lymph Nodes ; pathology ; Lymphoma, Large B-Cell, Diffuse ; genetics ; immunology ; pathology ; Male ; Middle Aged ; Poly(A)-Binding Proteins ; metabolism ; Retrospective Studies ; T-Cell Intracellular Antigen-1 ; T-Lymphocytes ; immunology ; metabolism ; pathology

Intussusception is a rare disease in adults. A demonstrable etiology is found in approximately 85% of all cases, and approximately 40% of them are caused by malignant tumors. A 65-year-old patient visited the outpatient department with mild abdominal pain without other symptoms. The initial laboratory test and simple X-ray showed normal findings. CT revealed intussusception in the ileocecal area. The initial colonoscopic biopsy revealed atypical cells. Follow up colonoscopy showed spontaneous reduction of the intussusception. Diffuse large B-cell lymphoma was suspected in the second colonoscopic biopsy. An elective operation was performed. This case reports a case of a spontaneous reduction of adult intussusception with a brief review of literature.
Abdominal Pain ; Adult ; Aged ; Biopsy ; Colonoscopy ; Follow-Up Studies ; Humans ; Immunoproliferative Small Intestinal Disease ; Intussusception ; Lymphoma ; Lymphoma, B-Cell ; Outpatients ; Rare Diseases

Intussusception is a rare disease in adults. A demonstrable etiology is found in approximately 85% of all cases, and approximately 40% of them are caused by malignant tumors. A 65-year-old patient visited the outpatient department with mild abdominal pain without other symptoms. The initial laboratory test and simple X-ray showed normal findings. CT revealed intussusception in the ileocecal area. The initial colonoscopic biopsy revealed atypical cells. Follow up colonoscopy showed spontaneous reduction of the intussusception. Diffuse large B-cell lymphoma was suspected in the second colonoscopic biopsy. An elective operation was performed. This case reports a case of a spontaneous reduction of adult intussusception with a brief review of literature.
Abdominal Pain ; Adult ; Aged ; Biopsy ; Colonoscopy ; Follow-Up Studies ; Humans ; Immunoproliferative Small Intestinal Disease ; Intussusception ; Lymphoma ; Lymphoma, B-Cell ; Outpatients ; Rare Diseases

Mucosa-associated lymphoid tissue (MALT) lymphoma is the disease of distinctive clinicopathologic entities most of which are different from current lymph-node based lymphoma classification. According to the circulatory properties of the lymphocytes and specific immunoglobulin isotype distribution, MALT is defined as the central lymphoid tissue and is opposed to peripheral somatic lymphoid tissue. It occurs most often in the gastrointestinal mucosa and the bronchial mucosa and may occur in other organs such as salivary gland, thyroid gland, conjunctiva, skin. The most common site of MALT lymphoma is gastrointestinal tract but non-gastrointestinal MALT lymphoma may present. The characteristics of pathology are reactive follicles surrounded by the diffuse infiltration of centrocyte-like (CCL) cells and lymphoepithelial lesion due to the gland invasion of CCL cells. It is a localized disease and has a long survival, Isaacson et al suggested the classification of primary gastrointestinal MALT lymphoma as low grade, high grade, immunoproliferative small intestinal disease (IPSID). The distribution is more often in the stomach than in the intestine. Intestinal MALT lymphomas have less favorable clinicnl courses than the gastric MALT lymphomas. Recurrences may appear in the same organ or in other extranodal sites. We report clinical, pathologic findings, and clinical course in a case of primary small intestinal MALT lymphoma in terminal ileum with literature review.
Classification ; Conjunctiva ; Gastrointestinal Tract ; Ileum ; Immunoglobulins ; Immunoproliferative Small Intestinal Disease ; Intestine, Small* ; Intestines ; Lymphocytes ; Lymphoid Tissue ; Lymphoma ; Lymphoma, B-Cell, Marginal Zone* ; Mucous Membrane ; Pathology ; Recurrence ; Salivary Glands ; Skin ; Stomach ; Thyroid Gland