Gene Fusion ; Gene Rearrangement ; Humans ; Neoplasms/genetics* ; Nuclear Proteins/genetics*

No abstract available.
Gene Rearrangement* ; Lung ; Lymphoma ; Polymerase Chain Reaction ; T-Lymphocytes*

Humans ; China ; Chromosome Aberrations ; Consensus ; Gene Rearrangement ; Lymphoma/genetics*

No abstract available.
Exons* ; Gene Rearrangement* ; Immunoglobulin Heavy Chains* ; Immunoglobulins* ; Leukemia, Lymphoid*

Gene rearrangement analysis using Southern-blot hybridization technique is a standard method for evaluating clonal receptor gene rearrangement. Both clonality and lineage can be identified in lymphoid neoplasms by the demonstration of one or more rearranged antigen receptor genes of the immunoglobulin supergene family-immunoglobulin and T-cell receptor genes. To evaluate the diagnostic applicability of antigen receptor gene rearrangements in the diagnosis of malignant lymphomas and leukemias, the authors performed a gene rearrangement analysis of 54 cases by southern blot hybridization technique. One or two clonally rearranged bands were detected in the malignant lymphomas and in the lymphoblastic leukemias with a false-negative rate of 13.8%. No clonal, rearranged band was detected in benign reactive hyperplasias, carcinomas or non-lymphocytic leukemias. Rearrangement analysis could resolve the lineage, clonality and stage of differentiation of malignant lymphoid neoplasms.
Gene Rearrangement ; *Gene Rearrangement, T-Lymphocyte ; *Genes, Immunoglobulin ; Human ; Leukemia/*genetics/immunology ; Lymphoma/*genetics/immunology ; Support, Non-U.S. Gov't

Diagnosis, Differential ; Gene Rearrangement, B-Lymphocyte ; Gene Rearrangement, T-Lymphocyte ; Humans ; Lymphoma ; diagnosis ; genetics ; Lymphoma, Follicular ; diagnosis ; genetics ; Lymphoproliferative Disorders ; diagnosis ; genetics ; Polymerase Chain Reaction ; methods

OBJECTIVETo establish a sensitive and effective method for detection of immunoglobulin and T-cell receptor (Ig/TCR) gene rearrangement,and to explore its role in diagnosis and differential diagnosis of lymphoproliferative disorders.

METHODSFifty-eight lymphoid tissue samples from 54 patients with lymphoproliferations were evaluated by the novel BIOMED-2 multiplex polymerase chain reaction (PCR) for antigen receptor genes rearrangement.

RESULTSMultiplex PCR demonstrated monoclonal Ig/TCR gene rearrangements in 22 of 25 (88.0%) B-cell malignancies and 8 of 15 (53.3%) T-cell malignancies. Among 17 benign lymphoproliferations confirmed histopathologically, polyclonal rearrangements were detected in 14 cases (82.4%). In total, the clonality analysis and the final clinico-histopathological diagnosis were concordant in 77.2%. Combination detection of Iglambda and TCR delta gene rearrangements did not increase the detection rate of monoclonal rearrangement of Ig/TCR, but might help to the detection of Iglambda+ or TCR delta+ lymphomas.

CONCLUSIONThe novel BIOMED-2 multiplex PCR strategy is a rapid, reliable and sensitive approach to detecting clonality in suspected lymphoproliferations, especially in atypical cases.

Female ; Gene Rearrangement, B-Lymphocyte, Light Chain ; Gene Rearrangement, T-Lymphocyte ; Humans ; Lymphoproliferative Disorders ; diagnosis ; genetics ; Male ; Polymerase Chain Reaction ; methods ; Sensitivity and Specificity

The bone marrow biopsy is an integral part of the staging process in patients with malignant lymphomas. Bone marrow(BM) involvement indicates stage IV disease, but there are always a lot of cases in which clear separation is not possible when based on morphology alone. Additional difficulties are caused by morphologic discordance between the BM and the primary lymphoma. Immunohistochemical stain, mRNA in situ hybridization (ISH) for light chain restriction and polymerase chain reaction (PCR) for IgH CDR3 and TCRgamma were performed to find a minimal lesion and the clonality in formalin fixed paraffin embedded tissues of 39 primary lymphomas and corresponding BM biopsy specimens. As a result, nine morphologically negative bone marrows of 18 lymphomas were positive by PCR (Group I). Among the 6 lymphoma cases with morphologically suspicious BM involvement (Group II), one was confirmed to be positive for marrow involvement by both mRNA ISH and PCR and the other four by PCR alone. The positive bone marrows of Group I and II revealed gene rearrangement at the same site as the primary lesion, suggesting the same clonality. Thirteen of 15 lymphomas with morphologically positive BM (Group III) had the same clonality in the primary lymphomas and the BM lesion. Three cases among the Group III with morphologic discordance also revealed the same clonality by PCR. This study shows that a combination of mRNA ISH and PCR in addition to an immunohistochemical stain improves the diagnostic sensitivity in the detection of BM involvement and identification of clonality. Among the three different methods used, PCR is the most sensitive in detecting a minimal lesion.
Biopsy ; Bone Marrow ; Formaldehyde ; Gene Rearrangement ; Humans ; In Situ Hybridization ; Lymphoma* ; Paraffin ; Polymerase Chain Reaction ; RNA, Messenger

PURPOSE: The recent discovery and characterization of an oncogenic ROS1 gene rearrangement has raised significant interest because small molecule inhibitors are effective in these tumors. The aim of this study was to determine frequency and clinicopathological features associated with ROS1 rearrangement in patients with cholangiocarcinoma (CCA). MATERIALS AND METHODS: A total of 261 patients who underwent surgery for CCA between October 1997 and August 2013 were identified from an international, multi-institutional database. ROS1 rearrangement was evaluated by break-apart fluorescence in situ hybridization using tissue microarrays of these patients. RESULTS: Of 261 CCA evaluated, three cases (1.1%) showed ROS1 rearrangement by fluorescence in situ hybridization (FISH), all of which were derived from intrahepatic origin. ROS1 protein expression was observed in 38 samples (19.1%). Significantly larger tumor size was observed in ROS1 immunohistochemistry (IHC)–negative patients compared with ROS1 IHC–positive patients. ROS1 FISH–positive patients had a single tumor with a median size of 4 cm and well-to-moderate differentiation. Overall, there was no difference in terms of baseline characteristics, overall survival, and recurrence-free survival between ROS1-positive and -negative patients. CONCLUSION: ROS1 rearrangement was detected in 1.1% of CCA patients. Although rare, conduct of clinical trials using ROS1 inhibitors in these genetically unique patients is warranted.
Cholangiocarcinoma* ; Fluorescence ; Gene Rearrangement ; Humans ; Immunohistochemistry ; In Situ Hybridization ; In Situ Hybridization, Fluorescence ; Incidence*

OBJECTIVETo explore the molecular pathological diagnosis of mucosa-associated lymphoid tissue lymphoma(MALTL).

METHODSSixty MALTL paraffin embedding specimens were analyzed retrospectively. The distribution of the primary lesion, morphology, immunophenotype, IgH gene cloning rearrangement were evaluated.

RESULTSThe main risk area for the patients with MALTL was gastric area(37%), in the second place was salivary gland(20%), in the third place was intestine (12%), orbit and ocular adnexa(12%); at low magnification, MALTL specimens manifasted diffuse growth majority, a few of nodular structure, lymphoma cell forms were diversified; The results of immunohistochemical detection showed that the CD20 and the BCL-2 were positive, the CD3, CD5, CD10, CD23, cyclin D1 and CD21 were negative, 17 specimen kappa or lambda express more obviously, their sensibility was 28.33%(17/60); 61.67%(37/60) developed IgH gene rearrangement, 19 specimen IgH gene rearrangement monoclonal and kappa or lambda were negative, the positive rate of both combined detections was 68.33%.

CONCLUSIONThe tissue morphologic characteristics and immuno-histochemistry detection are the basic means for MALTL diagnosis, the detection of IgH gene reasragement and Kappa or lamda restrictive expression has the practical importance for MALTL diagnosis, both combination can show higher positive rate for MALTL diagnosis.

Cyclin D1 ; Gene Rearrangement ; Humans ; Immunophenotyping ; Lymphoma, B-Cell, Marginal Zone