MYELODYSPLASTIC SYNDROMES IN ADULTS UNDER 50 YEARS: CLINICAL IMPLICATIONS AND COMPREHENSIVE STUDY OF CONGENITAL-ACQUIRED HYBRID MODEL OF MALIGNANCY. (Q3141972): Difference between revisions
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(Created claim: summary (P836): In myelodysplastic syndromes (MDS), the line separating constitutional and acquired pathogenesis is not well defined, as inherited genetic alterations can lead to both classical congenital medullary insufficiency syndromes and a high predisposition to developing MDS in adulthood. Main objectives: 1) demonstrate the clinical usefulness (with applications in prevention, genetic counseling, targeted therapy and haematopoietic transplantation) of th...) |
(Changed label, description and/or aliases in en: translated_label) |
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MYELODYSPLASTIC SYNDROMES IN ADULTS UNDER 50 YEARS: CLINICAL IMPLICATIONS AND COMPREHENSIVE STUDY OF CONGENITAL-ACQUIRED HYBRID MODEL OF MALIGNANCY. | |||
Revision as of 13:25, 12 October 2021
Project Q3141972 in Spain
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | MYELODYSPLASTIC SYNDROMES IN ADULTS UNDER 50 YEARS: CLINICAL IMPLICATIONS AND COMPREHENSIVE STUDY OF CONGENITAL-ACQUIRED HYBRID MODEL OF MALIGNANCY. |
Project Q3141972 in Spain |
Statements
76,000.0 Euro
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95,000.0 Euro
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80.0 percent
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1 January 2017
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31 March 2020
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FUNDACION PARA LA FORMACION E INVESTIGACION SANITARIAS DE LA REGION DE MURCIA (FFIS)
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37°59'32.57"N, 1°7'49.94"W
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30030
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En los síndromes mielodisplásicos (SMD), la línea que separa la patogenia constitucional de la adquirida no está bien definida, ya que alteraciones genéticas heredadas pueden dar lugar tanto a los clásicos síndromes de insuficiencia medular congénitos como a una predisposición elevada a desarrollar SMD en la edad adulta. Objetivos principales: 1) demostrar la utilidad clínica (con aplicaciones en prevención, consejo genético, terapia dirigida y trasplante hematopoyético) de la detección de las mutaciones y pérdidas de heterocigosidad constitucionales en los pacientes con SMD; y 2) establecer las relaciones biológicas de la presencia de estas alteraciones heredadas con la adquisición de determinadas alteraciones somáticas genéticas, epigenéticas y de la biología de los telómeros. Métodos: Se incluirán 100 pacientes diagnosticados de SMD entre los 16 y los 50 años reclutados por los centros incluidos en el Grupo Español de SMD, un grupo control de 50 individuos sanos apareado por edad, y un grupo de 50 individuos con SMD en edad avanzada. Se realizará separación de tejido germinal y tumoral de muestras de sangre al diagnóstico, mediante separación por gradiente e inmunoselección, para: 1) Secuenciación de nueva generación dirigida a una panel de: i) genes con mutaciones constitucionales implicadas en la predisposición a SMD, y ii) genes con mutaciones adquiridas recurrentes en SMD. 2) Estudio de variaciones en el número de copias y pérdidas de heterocigosidad mediante SNP-arrays. 3) Estudio de longitud telomérica por poblaciones hematológicas mediante Flow-FISH. 4) Estudio de perfil global de metiloma mediante técnica de alto rendimiento. (Spanish)
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In myelodysplastic syndromes (MDS), the line separating constitutional and acquired pathogenesis is not well defined, as inherited genetic alterations can lead to both classical congenital medullary insufficiency syndromes and a high predisposition to developing MDS in adulthood. Main objectives: 1) demonstrate the clinical usefulness (with applications in prevention, genetic counseling, targeted therapy and haematopoietic transplantation) of the detection of constitutional mutations and loss of heterozygosity in patients with MDS; and 2) establish the biological relationships of the presence of these inherited alterations with the acquisition of certain somatic alterations genetic, epigenetic and the biology of telomeres. Methods: It will include 100 patients diagnosed with MDS between the ages of 16 and 50 years recruited by the centers included in the Spanish MDS Group, a control group of 50 healthy individuals mated by age, and a group of 50 individuals with elderly MDS. Separation of germ and tumour tissue from blood samples shall be carried out at diagnosis, by gradient separation and immunoselection, in order to: 1) Next generation sequencing aimed at a panel of: I) genes with constitutional mutations involved in predisposition to MDS, and ii) genes with recurrent acquired mutations in MDS. 2) Study of variations in the number of copies and losses of heterozygosity using SNP-arrays. 3) Telomeric length study by hematological populations using Flow-FISH. 4) Global profile study of methyloma using high-performance technique. (English)
12 October 2021
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Murcia
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Identifiers
PI16_01302
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