Lymphoplasmacytic lymphoma/Waldenström macroglobulinemia with P53 deletion and TCR-delta rearrangement in a case / 中华医学遗传学杂志

OBJECTIVE To study the morphology, immunology, cyto- and molecular genetics of a patient with lymphoplasmacytic lymphoma/Waldenström macroglobulinemia (LPL/WM), deletion of P53 gene and rearrangement of clonal T cell receptors-delta (TCR-delta) gene. METHODS The cell morphology and immunocytochemistry were analyzed by bone marrow testing and biopsy. Cellular immunology was analyzed by flow cytometry. Genetic analysis was carried out by chromosome karyotyping, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR). Immunoglobulin M (IgM) in serum and urine was assayed by immunofixation electrophoresis. And the effect of chlorambucil therapy was evaluated. RESULTS Bone marrow biopsy suggested that the patient was of B lymphocyte type and had abnormal increase of lymphocytoid plasma cells, which were CD38 and CD138 positive. The patient had a normal male karyotype. FISH and PCR analysis of peripheral blood samples suggested deletion of P53 gene and rearrangement of TCR-delta gene. Immunofixation electrophoresis has detected IgM-kappa in both serum and urine. The patient showed partial response to chlorambucil. CONCLUSION In addition to typical clinical features, bone marrow examination, flow cytometry, histochemistry and immunophenotyping, testing for P53 gene deletion and lymphocyte gene rearrangement can facilitate the diagnosis and treatment of LPL/WM.

Characterization of human αβTCR repertoire and discovery of D-D fusion in TCRβ chains

The characterization of the human T-cell receptor (TCR) repertoire has made remarkable progress, with most of the work focusing on the TCRβ chains. Here, we analyzed the diversity and complexity of both the TCRα and TCRβ repertoires of three healthy donors. We found that the diversity of the TCRα repertoire is higher than that of the TCRβ repertoire, whereas the usages of the V and J genes tended to be preferential with similar TRAV and TRAJ patterns in all three donors. The V-J pairings, like the V and J gene usages, were slightly preferential. We also found that the TRDV1 gene rearranges with the majority of TRAJ genes, suggesting that TRDV1 is a shared TRAV/DV gene (TRAV42/DV1). Moreover, we uncovered the presence of tandem TRBD (TRB D gene) usage in ~2% of the productive human TCRβ CDR3 sequences.

Diversity of T-cell receptor gene rearrangements in South Indian patients with common Acute Lymphoblastic Leukemia

Precursor B-Acute Lymphoblastic Leukemia [precursor B-ALL] occurs due to the uncontrolled proliferation of B-lymphoid precursors arrested at a particular stage of B-cell development. Precursor-B-ALL is classified mainly into pro-B-ALL, common-ALL and pre-B-ALL. The Common Acute Lymphoblastic Antigen CD10 is the marker for common-ALL. This study was aimed to examine the diversity of T-cell receptor Gamma [TCRG] and T-cell receptor Delta [TCRD] gene rearrangements in South Indian Common-ALL patients. Clonality of TCRG and TCRD was studied in 52 cases [pediatric=41 and adolescents and young adults=11] of common-ALL. TCRG and TCRD gene rearrangements were amplified by PCR and the clonality was assessed by Heteroduplex analysis of amplified products. In pediatric common-ALL, clonal TCRG and TCRD gene rearrangements were detected in 19 [46.3%] and 18 [43.9%] cases respectively. In adolescents and young adults [AYA], TCRG was rearranged in 8 [72.7%] cases and TCRD was rearranged in 4 [36.3%] cases. In the present study of common-ALL, the frequency of a TCRG rearrangement V gamma II-J gamma 1.3/2.3 was significantly high in AYA compared to pediatric [36.3% vs 4.8%; p<0.025]. Thus, V gamma II-J gamma 1.3/2.3 was highly diverse in AYA compared to pediatric. That shows the difference in biology of the disease between pediatric and AYA in South Indian population. The reason for the high frequency of V gamma II-J gamma 1.3/2.3 in AYA of common-ALL in South Indian population in connection with unknown infectious agents or environmental carcinogens needs to be evaluated further

Síntesis de la importancia de nuevas técnicas en el diagnóstico de los linfomas cutáneos / Summary of the importance of new techniques for the diagnosis of cutaneous lymphomas

El diagnóstico de los linfomas cutáneos tiene importantes implicancias para los pacientes. Tradicionalmente el diagnóstico de cualquier lesión cutánea está basado en criterios clínicos e histopatológicos. Ninguno de estos criterios es absoluto y en los últimos años se ha destacado la trascendencia de la inmunohistoquímica y la biología molecular en relación con el diagnóstico y pronóstico. La inmunohistoquímica permite definir subpoblaciones de linfocitos, estableciendo el fenotipo, categorizando algunos cuadros y destacando en algunos casos el pronóstico a partir del CD30 (+) o (-). La biología molecular define el genotipo, aportando el concepto de monoclonalidad que sugiere malignidad. Por otra parte, proponemos una clasificación de los linfomas cutáneos primarios que ha sido recientemente introducida