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Objective: To analyze the clinicopathological characteristics of 11 cases of chronic lymphocytic leukemia (CLL) with t (14;19) (q32;q13) . Methods: The case data of 11 patients with CLL with t (14;19) (q32;q13) in the chromosome karyotype analysis results of the Blood Diseases Hospital, Chinese Academy of Medical Sciences from January 1, 2018, to July 30, 2022, were retrospectively analyzed. Results: In all 11 patients, t (14;19) (q32;q13) involved IGH::BCL3 gene rearrangement, and most of them were accompanied by +12 or complex karyotype. An immunophenotypic score of 4-5 was found in 7 patients and 3 in 4 cases. We demonstrated that CLLs with t (14;19) (q32;q13) had a mutational pattern with recurrent mutations in NOTCH1 (3/7), FBXW7 (3/7), and KMT2D (2/7). The very-high-risk, high-risk, intermediate-risk, and low-risk groups consisted of 1, 1, 6, and 3 cases, respectively. Two patients died, 8 survived, and 2 were lost in follow-up. Four patients had disease progression or relapse during treatment. The median time to the first therapy was 1 month. Conclusion: t (14;19) (q32;q13), involving IGH::BCL3 gene rearrangement, is a rare recurrent cytogenetic abnormality in CLL, which is associated with a poor prognosis.
Subject(s)
Humans , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Retrospective Studies , Translocation, Genetic , Chromosome Aberrations , KaryotypingABSTRACT
Objective:To improve the understanding of chronic lymphoblastic leukemia (CLL) with t(14;18)(q32;q21).Methods:The clinical data of 3 cases diagnosed as CLL with t(14;18)(q32;q21) in the Tianjin KingMed Medical Laboratory from January 2020 to January 2021 were retrospectively analyzed. The clinicopathological data, morphological examination, immunophenotype, cytogenetics and somatic mutation of immunoglobulin heavy chain variable region genes of patients were comprehensively analyzed, and the literature was reviewed.Results:All the 3 patients showed lymphatic proliferative diseases, and their morphological characteristics and immunophenotype were typical characteristics of CLL.Conclusions:The diagnosis of CLL is mainly based on the typical morphology and immunophenotype of tumor cells. The presence of t(14;18) should not be used to exclude the diagnosis of CLL.
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Several groups have demonstrated that healthy individuals can present the t(14;18) translocation. In this report, the presence of the translocation was examined in healthy blood donors in Brazil, a country considered an ethnic melting pot. The translocation was detected by nested PCR in 227 peripheral blood samples from individuals with different ethnic backgrounds. The t(14;18) translocation was found in 45 of 85 White individuals (52.94%); in 57 of 72 Black individuals (79.17%); and in 68 of 70 individuals (97.14%) of Japanese-descent. In conclusion, the frequency of the t(14;18) translocation in the Brazilian population varies according to the ethnic background.
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Young Adult , Chromosomes, Human, Pair 14 , Chromosomes, Human, Pair 18 , Lymphoma, Follicular/ethnology , Lymphoma, Follicular/genetics , Translocation, Genetic , Blood Donors , Brazil/ethnology , Ethnicity , Polymerase Chain ReactionABSTRACT
We report a case of chronic eosinophilic leukemia in a 9 year old girl who presented with anemia, thrombocytopenia, leucocytosis (mostly dysplastic eosinophils), lymphadenopathy and hepatosplenomegaly. There was no increase in blasts but myelofibrosis was seen in the bone marrow. A previously unreported translocation 46,XX,t(1;4)(q24;q35), was found on cytogenetic analysis and involvement of the myocardium was also present. Shortly after commencing steroids, the family abandoned therapy.
Subject(s)
Cardiomyopathies/blood , Cardiomyopathies/diagnosis , Cardiomyopathies/drug therapy , Cardiomyopathies/genetics , Child , Chronic Disease , Echocardiography , Eosinophils , Female , Glucocorticoids/therapeutic use , Humans , Hypereosinophilic Syndrome/blood , Hypereosinophilic Syndrome/diagnosis , Hypereosinophilic Syndrome/drug therapy , Hypereosinophilic Syndrome/genetics , Translocation, GeneticABSTRACT
Objective To investigate the protein and gene expression of bcl-2, bcl-6 in diffuse large B-cell lymphoma (DLBCL). Methods 73 cases of DLBCL were selected for study using the Envision immunohistochemistry method with a panel of antibodies CD3, CD10, CD20, bcl-6, bcl-2, MUM-1. The bcl-2gene expression in 57 of 73 cases with chromosome translocation t (14; 18), breakage and amplification of 3q27 chromosome in 54 of 73 cases were detected by fluorescence in situ hybridization (FISH) method. Results The percentages of tumor cells expressing CD10, bcl-6, MUM-1, bcl-2 were separately 15.1%, 38.4 %, 71.2 %, 79.2 %. t (14;18) chromosomes were detected in 16 of 57 cases (28.1%). The expression of bcl-2 protein have significantly correlated with immunophenotype subtype (P=0.035), and t (14;18) was significantly correlated with the prognosis (P=0.045). There were no association between the expression of bcl-2 protein and t (14;18)(P=0.710). 11 of 54 cases were presented with 3q27 chromosomal breakage (20.4 %), and 14 cases were chromosomal amplification (25.9 %). The prognosis of cases with positive bcl-6 protein was better than that with negative protein obviously. There was no relationship between bcl-6 and 3q27 chromosomal breakage or amplification (P=1.000). Conclusion The expression of bcl-2, bcl-6 protein and gene were different events and had the different significance on DLBCL. The expression of bcl-2 protein was a prognostic marker correlated with immunophenotype subtype, and GCB type with the positive expression of bcl-2 protein had the poor prognosis. Conversely, t(14;18) was an independent event for the prognosis, and the positive expression have the poor prognosis. Patients who require the target therapy should be detected for the t(14;18). The expression of bcl-6 protein was beneficial to the judgment of DLBCL prognosis, it could be an independent factor of the prognosis. 3q27 chromosomal breakage may be a hint to the poor prognosis.
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BACKGROUND: Despite the advent of molecular biology and immunogenetics, the biologic behaviors and disease entities of primary cutaneous B-cell lymphomas(pCBCL) have been undetermined. Moreover, rarity of pCBCL cases and the conflicting datas of current issues have contributed to the dilemmas in understanding of the biology of pCBCL. Until now, a study of the overall features of pCBCL in Korea has been rarely presented. OBJECTIVE: We performed this study in order to identify the histopathologic and immunogenetic characteristics of pCBCL in Korea. METHODS: The histopathologic, immunophenotypic and molecular analysis of preserved specimens of 15 cases with pCBCL were conducted. RESULTS: 1. Of the 15 patients with pCBCL, most common types are follicle center cell lymphomas(73.3%). In REAL classification, diffuse large B-cell lymphoma is most common(66.6%). 2. In bcl-2 immunohistochemical staining, 3 cases(20%) were positive. 3. Only one of 15 cases of pCBCL denoted bcl-2 gene rearrangement by t(14;18) in minor cluster region. 4. Immunohistochemical staining demonstrated overexpression of p53 protein in 3(20%) of 15 cases. 5. 2 cases(13.3%) with point mutations(one for exon 5; the other for exon 8) in p53 DNA sequencing analysis. CONCLUSION: t(14;18) translocation may be rare in pCBCL in Korea. This finding indicates that bcl-2 expression by tumor cells in pCBCL without t(14;18) may occur by different genetic dysregulation. It seems to be that overexpression of p53 protein might not correspond with p53 mutations in pCBCL.