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NUEVOS REARREGLOS ESTRUCTURALES EN LEUCEMIA LINFOCITICA CRONICA/LINFOMA DE LINFOCITOS PEQUEÑOS

NUEVOS REARREGLOS ESTRUCTURALES EN LEUCEMIA LINFOCITICA CRONICA/LINFOMA DE LINFOCITOS PEQUEÑOS

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El trabajo informa sobre cuatro anomalías estructurales nuevas, una de ellas recurrente, y sugiere que éstas podrían implicar eventos genéticos asociadas a enfermedad inestable.
cerretini9.jpg Autor:
Roxana Inés Cerretini
Columnista Experto de SIIC

Institución:
Departamento de Genética Instituto de Investigaciones Hematológicas Academia Nacional de Medicina


Artículos publicados por Roxana Inés Cerretini
Coautores
Christian Pablo Chena*  Irma Rosa Slavutsky** 
Licenciado en Genética. Departamento de Genética, Instituto de Investigaciones Hematológicas “Mariano R. Castex”, Academia Nacional de Medicina.*
Doctora en Medicina. Departamento de Genética, Instituto de Investigaciones Hematológicas “Mariano R. Castex”, Academia Nacional de Medicina.**
Recepción del artículo
11 de Enero, 2005
Aprobación
14 de Febrero, 2005
Primera edición
12 de Septiembre, 2005
Segunda edición, ampliada y corregida
7 de Junio, 2021

Resumen
La leucemia linfocítica crónica/linfoma de linfocitos pequeños (LLC/LLP) presenta una evolución clínica muy variable, encontrándose rearreglos genómicos asociados con diferentes grupos de riesgo. Este trabajo se centra en el análisis de rearreglos estructurales de los cromosomas 2, 12 y 17; se describen 4 anomalías nuevas, detectadas en un total de 92 pacientes. Simultáneamente, se efectuó una exhaustiva revisión de la literatura. Se efectuó estudio citogenético e hibridación in situ con fluorescencia (FISH). Cuatro casos mostraron anomalías que afectaban el cromosoma 17, siendo el cromosoma 2, con punto de ruptura en 2p21, el cromosoma partner más frecuente. Un paciente presentó coexistencia de LLC/LLP con enfermedad de Hodgkin, subtipo celularidad mixta, detectándose el marcador psu dic (17;2)(p112;p21), con deleción monoalélica del gen TP53. Dos casos mostraron una nueva anomalía recurrente: t(2;17)(p21;q23), asociada a evolución clonal en ambos pacientes y a deleción 11q23 en uno de ellos. Las restantes alteraciones fueron el der(17)t(12;17)(q13;q25) y una translocación compleja t(5;12;19)(q15;p11;q13). Cuatro pacientes tuvieron curso clínico adverso y murieron debido a progresión de su enfermedad. Nuestro trabajo aporta cuatro anomalías estructurales nuevas, una de ellas recurrente, y sugiere que éstas podrían implicar eventos genéticos asociadas a enfermedad inestable.

Palabras clave
LLC/LLP, enfermedad de Hodgkin, citogenética, FISH


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Abstract
Chronic lymphocytic Leukemia/small lymphocytic lymphoma (CLL/SLL) is a lymphoproliferative disorder characterized by a highly variable clinical course and specific genetic alterations have been associated with different risk groups. In the present study, we focused on the analysis of structural anomalies of chromosomes 2, 12 and 17. In addition, a exhaustive revision of the literature was performed. We identified four new genomic rearrangements detected among 92 evaluated patients. Cytogenetic studies and fluorescence in situ hybridization (FISH) analysis were performed. Four cases showed chromosome 17 structural anomalies and chromosome 2 with breakpoint at p21 was the most frequent chromosome partner. A psu dic (17;2)(p11.2;p21), leading to a TP53 deletion, was observed in a patient who developed a mixed cellularity Hodgkin’s disease coexisting with the CLL/SLL. Two cases had a new recurrent translocation t(2;17)(p21;q23), both associated with clonal evolution and one of them also with a 11q23 deletion. In addition, a der(17)t(12;17)(q13;q25) and a complex translocation t(5;12;19) (q15;p11;q13) were also found. Four patients presented an adverse clinical outcome and died due to disease progression. These uncommon abnormalities may have implications for the understanding of genetic events associated with evolving disease.

Key words
CLL/SLL, Hodgkin’s disease, cytogenetic, FISH


Clasificación en siicsalud
Artículos originales > Expertos de Iberoamérica >
página   www.siicsalud.com/des/expertocompleto.php/

Especialidades
Principal: Genética Humana, Hematología
Relacionadas: Diagnóstico por Laboratorio, Medicina Interna, Oncología



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Patrocinio y reconocimiento:
Agradecimientos: Este trabajo fue realizado con subsidios otorgados por el Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), la Agencia Nacional de Promoción Científica y Técnica (ANPCyT), Fundación “Alberto J. Roemmers” y Fundación Acción Oncohematológica.
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