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Introducción. El consorcio europeo BIOMED-2 se creó para determinar si una población linfoide de difícil clasificación patológica es clonal. En Colombia, la implementación de estas pruebas comenzó en el 2015 en el Instituto Nacional de Cancerología E.S.E. (Bogotá). Objetivos. Determinar el comportamiento de las pruebas de reordenamiento clonal o clonalidad linfoide. y determinar las dificultades de su uso en nuestro medio verificando su adaptación local y los resultados en una serie retrospectiva de casos y consecutiva de proliferaciones linfoides sometidas a los protocolos BIOMED-2. Materiales y métodos. A partir de las historias clínicas, se recolectaron los datos clínicos e histológicos y los resultados de los análisis de los reordenamientos en todos los casos de proliferaciones linfoides sometidas a los protocolos BIOMED-2, entre febrero de 2015 y mayo de 2019. Resultados. Se hallaron 132 casos, de los cuales 47 se clasificaron mediante los protocolos de Biomed-2 como hiperplasias linfoides reactivas, 62 como linfomas T, 19 como linfomas B y 3 como neoplasias linfoides de linaje no establecido. Solo en un caso falló la extracción de ADN. Según estos resultados, la mayor dificultad diagnóstica para el patólogo fue el análisis de los infiltrados linfoides T, la mayoría (44) de los cuales correspondía a lesiones cutáneas. Conclusiones. Las pruebas de clonalidad pueden usarse en tejidos de diversa calidad en nuestro medio como ayuda en el diagnóstico de proliferaciones linfoides de difícil clasificación. Es importante hacerlas e interpretarlas de manera multidisciplinaria y considerar cada caso por separado.
Introduction: The European BIOMED-2 consortium was created to evaluate clonality in lymphoproliferations that are difficult to diagnose. In Colombia, the implementation of these tests began in 2015 at the Instituto Nacional de Cancerología E.S.E., Bogotá. Objectives: To determine the behavior of the rearrangement tests for lymphoid clonality and the difficulties of its implementation in our field through a series of retrospective and consecutive cases of lymphoid proliferation subjected to the BIOMED-2 protocols. Materials and methods: Clinical and histological data and the results of the rearrangement analysis of all cases of lymphoid proliferation subjected to the BIOMED-2 protocols between February 2015 and May 2019 were collected from clinical histories. Results: We recovered 132 samples from which 47 corresponded to reactive lymphoid hyperplasias, 62 to T lymphomas, 19 to B lymphomas, and three to lymphoid neoplasms of unestablished lineage. Only in one case did DNA extraction fail. According to these results, the greatest diagnostic difficulty for the pathologist was the analysis of T lymphoid infiltrates, most of which (44) were skin lesions. Conclusions: Clonality tests can be used in tissues of different quality to help in the diagnosis of lymphoid proliferations that are difficult to classify. It is important to implement and interpret them in an interdisciplinary way considering each case separately.
Asunto(s)
Linfoma , Inmunoglobulinas , Reordenamiento Génico de Linfocito T , Genes Codificadores de los Receptores de Linfocitos T , Electroforesis en Gel de PoliacrilamidaRESUMEN
Objective@#To investigate the clinicopathological features of indolent T-cell lymphoproliferative disorder of the gastrointestinal tract.@*Methods@#Five cases of indolent T-cell lymphoproliferative disorder of the gastrointestinal tract from the Affiliated Hospital of Qingdao University from 2016 to 2019 were retrospectively reviewed. The clinical and pathological parameters were analyzed by combining clinical data and reviewing the available literature of 35 cases (34 cases abroad and 1 case in China).@*Results@#There were 4 males and 1 female with a median age of 47 years (18-66 years). All patients had abdominal pain and constitutional symptoms including diarrhea, emaciation, intermittent mucous stool or oral and epiglottic ulcers. Endoscopic manifestations included multiple punctate congestion, erosion and ulcer at the terminal ileum and colorectum. Two cases had congestion and erosion of antrum and angle of stomach, and the lesions did not fuse and form tumors. Histologically, the lamina propria was expanded by a dense, medium to small lymphocyte infiltration, which was monomorphic, with slightly irregular nuclei without prominent nucleolus or lymphoepithelial lesions. There were admixed small amount of plasma cells and eosinophils. In 4 cases, immunohistochemistry showed the lesional cells were positive for CD3, CD8, TIA1, and negative for CD4, CD56, granzyme B and Ki-67 index was ≤10%. In situ hybridization showed that EBER was negative and clonal TCR gene rearrangement was detected. One consultation case was CD3+, CD5- and Ki-67 index of 10%, although other indicators were not done. All five patients were treated with symptomatic support. In follow-up observation for 2 to 25 months, all patients were alive with the disease.@*Conclusions@#Indolent T-cell lymphoproliferative disorder of the gastrointestinal tract is a newly classified monoclonal T-cell proliferative disease, with low incidence, clinical inertia and long-term survival. It has unique clinicopathological features but pathologically it is easily misdiagnosed as inflammatory bowel disease or T-cell lymphoma. Correct diagnosis is of great important clinical significance.
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Objective To study the role of gene Scanning in the clonality analysis of Ig/TCR gene remrangement in children with newly diagnosed acute lymphoblastic leukemia (ALL),and the relationship between the clinical characteristics of ALL and the type of Ig/TCR gene rearrangement.Methods The research was the clinical experimental study.Selected 86 cases of children with ALL who were diagnosed and treated in Department of Hematology-oncology of Guangzhou Women and Children's Medical Center,and All cases were confirmed by bone marrow cell morphology and flow cytometric immunophenotyping.Used multiplex PCR to detecte Ig/TCR gene rearrangements in children with newly diagnosed ALL.Applied gene scanning to analyze the clonality of Ig/TCR gene rearrangement.Results There were 83 cases detected 1 or more than 1 types of Ig/TCR gene rearrangements in 86 cases (96.5％),with 2.52 types each case.There were 56 cases detected at least one monoclonal Ig/TCR gene rearrangement in 61 cases analyzed by gene scanning (91.8％).The detectable rate for lgH,Igκ,TCRγ and TCRδ were 27.91％,27.91％,19.77％ and 24.42％ respectively in 172 of Ig/TCR gene rearrangement.Monoclonal,oligoclonal and polyclonal composition was 58.1％,30.8％ and 11.1％ respectively,the monoclonal as the main component.There was no significant difference between the types and clonality of Ig/TCR gene rearrangement and the clinical characteristics of children with newly diagnosed ALL (P ＞ 0.05).Conclusions Gene scanning can analyze clonality of the Ig/TCR gene rearrangement conveniently and rapidly,thus,it can be possible to select the stable targets for quantitative detection of minimal residual disease minimal residual disease.There is no significant difference between the types and clonality of Ig/TCR gene rearrangement and clinical characteristics of children with newly diagnosed.