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

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

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*

No abstract available.
Acute Disease ; *Gene Rearrangement ; Genome, Human ; Humans ; Leukemia/*diagnosis/genetics ; Polymerase Chain Reaction/*methods ; Translocation, Genetic

BACKGROUND: In the early stages of non-Hodgkin lymphoma (NHL), it can be difficult to recognize minimal morphological changes in the bone marrow (BM). In particular, when the quality of the BM biopsy is poor, determining BM involvement is limited to microscopic findings on BM aspiration. In this study, we compared the results of clonal immunoglobulin (IG) gene rearrangements with BM morphology results in B-cell NHL patients who underwent BM analysis as a staging workup and evaluated the usefulness of the clonal IG gene rearrangements for staging. METHODS: Forty two B-cell NHL patients were analyzed. Clonal rearrangements of the IG heavy chain (IGH), kappa light chain (IGK) and lambda light chain (IGL) genes were detected using the IdentiClone(TM) Clonality assay (InVivoScribe Technologies, USA). Clinical characteristics and outcomes were evaluated based on the detection of monoclonal IG gene rearrangements. RESULTS: Monoclonal IG gene rearrangements were found in 9 of 42 patients (21.4%). Microscopic BM involvement was found in only 2 of 42 patients (4.8%). The monoclonality rate of IG genes in BM was correlated with clinical stage and the international prognostic index (P<0.01). Patients with monoclonal IG gene rearrangements in BM had a significantly higher relapse rate (P=0.014) and poorer overall survival at 2 yr (P<0.01). CONCLUSIONS: Clonality analysis of BM in B-cell NHL can contribute to identification of patients with occult BM involvement with a significantly poorer overall survival despite normal BM histology.
B-Lymphocytes* ; Biopsy ; Bone Marrow* ; Gene Rearrangement ; Genes, Immunoglobulin* ; Humans ; Immunoglobulins ; Lymphoma, Non-Hodgkin* ; Recurrence

Cutaneous pseudolymphoma (CPL) has a microscopic appearance that resembles that of cutaneous lymphoma, but shows a clinically benign course. The differential diagnosis of CPL with cutaneous lymphoma is very important because clinical outcomes of them are quite different. We herein describe two cases of B-cell pseudolymphoma, which were difficult to differentiate from cutaneous B-cell lymphlma. All of two cases, Polymerase chain reaction of immunoglobulin heavy chain gene rearrangement showed polyclonal pattern.
B-Lymphocytes* ; Diagnosis, Differential ; Gene Rearrangement ; Immunoglobulin Heavy Chains ; Lymphoma ; Polymerase Chain Reaction ; Pseudolymphoma*

Early diagnosis of acute promyelocytic leukemia (APL) depends primarily on morphological recognition before the presence of t(15;17) or PML-RAR gene rearrangement is confirmed. But the diagnosis is difficult to be made, if typical APL morphologic features are not found. Here, we describe a 32- year old man who had been diagnosed as APL. He relapsed with AML M1 like phenotype, lacking the typical features of APL. At relapse, t(15;17) and PML-RAR alpha gene rearrangement were detected. After 14 days of chemotherapy and all-trans retinoic acid, the phenotype changed from the AML M1 like features to the typical hypergranular APL. Awareness of atypical morphologic subtypes found in APL is important. And identification of t(15;17) or PML/RAR alpha rearrangement will be helpful in diagnosis of atypical APL.
Diagnosis ; Drug Therapy ; Early Diagnosis ; Gene Rearrangement ; Leukemia, Promyelocytic, Acute* ; Phenotype ; Recurrence* ; Tretinoin

Biphenotypic acute leukemia (BAL) is a subtype of acute leukemia that expresses two different immunophenotypic lineages, most commonly myeloid and either B- or T-lymphoid lineages. This entity has been defined by a scoring system proposed by the European Group for the Immunological Characterization of Leukemias (EGIL). The prognosis of BAL is regarded as being worse than either acute lymphoid or myeloid leukemia that does not show lineage ambiguity. However, a treatment strategy for BAL has not yet been established. We experienced a case of BAL with the t(8;21) translocation, a favorable cytogenetic rearrangement in acute myeloid leukemia (AML). The patient was successfully treated with cytarabine and anthracycline for induction and consolidation. The quantitative value of the AML1-ETO gene decreased after achieving complete hematologic remission. Thus, the AML1-ETO gene rearrangement in BAL may be associated with an acceptable response to the treatment strategy for AML.
Cytarabine ; Cytogenetics ; Gene Rearrangement ; Humans ; Leukemia ; Leukemia, Biphenotypic, Acute ; Leukemia, Myeloid ; Leukemia, Myeloid, Acute ; Prognosis

Rearrangement of anaplastic lymphoma kinase (ALK) gene is the best predictor of response to crizotinib, an ALK tyrosine kinase inhibitor. However, the prevalence of the ALK fusion is low, so accurate patient identification is crucial for successful treatment using ALK inhibitors. Furthermore, most patients with lung cancer present with advanced-stage disease at the time of diagnosis, so it is important for pathologists to detect ALK-rearranged patients while effectively maximizing small biopsy or cytology specimens. In this review, we propose a guideline recommendation for ALK testing approved by the Cardiopulmonary Pathology Study Group of the Korean Society of Pathologists.
Biopsy ; Diagnosis ; Gene Rearrangement ; Humans ; Lung Neoplasms ; Lung ; Lymphoma ; Pathology ; Phosphotransferases ; Prevalence ; Protein-Tyrosine Kinases