دورية أكاديمية
Clinical characteristics of patients with central nervous system relapse in BCR-ABL1-positive acute lymphoblastic leukemia: the importance of characterizing ABL1 mutations in cerebrospinal fluid
| العنوان: | Clinical characteristics of patients with central nervous system relapse in BCR-ABL1-positive acute lymphoblastic leukemia: the importance of characterizing ABL1 mutations in cerebrospinal fluid |
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| المؤلفون: | Sanchez, Ricardo, Ayala, Rosa, Alonso, Rafael Alberto, Martínez, María Pilar, Ribera, Jordi, García, Olga, Sanchez-Pina, José, Mercadal, Santiago, Montesinos, Pau, Martino, Rodrigo, Barba, Pere, González-Campos, José, Barrios, Manuel, Lavilla, Esperanza, Gil, Cristina, Bernal, Teresa, Escoda, Lourdes, Abella, Eugenia, Amigo, Ma Luz, Moreno, Ma José, Bravo, Pilar, Guàrdia, Ramón, Hernández-Rivas, Jesús-María, García-Guiñón, Antoni, Piernas, Sonia, Ribera, José-María, Martínez-López, Joaquín |
| المساهمون: | Sanchez,R, Ayala,R, Alonso,RA, Martínez,MP, Sanchez-Pina, Martínez-López,J Instituto de Investigación Hospital 12 de Octubre (i+12), Servicio de Hematología, Hematología Traslacional, Hospital Universitario 12 de Octubre, Spain. Ribera,J, García,O, Ribera,JM Institut de Recerca contra la Leucèmia Josep Carreras, ICO-Hospital Germans Trias i Pujol, Badalona, Spain. Mercadal,S ICO-Hospital Duran i Reynals (Bellvitge), Barcelona, Spain. Montesinos,P Hospital Universitari i Politècnic La Fe, Valencia, Spain. Martino,R Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Barba,P Hospital Universitari Vall d’Hebron, Barcelona, Spain. González-Campos,J Hospital Universitario Virgen del Rocío, Sevilla, Spain. Barrios,M Hospital Regional Universitario Carlos Haya, Málaga, Spain. Lavilla,E Hospital Universitario Lucus Augusti, Lugo, Spain. Gil,C Hospital General Universitario de Alicante, Alicante, Spain. Bernal,T Hospital Universitario Central de Asturias, Oviedo, Spain. Escoda,L Hospital Universitari Joan XXIII, Tarragona, Spain. Abella,E Hospital del Mar, Barcelona, Spain. Amigo,ML Hospital General Universitario Morales Meseguer, Murcia, Spain. Moreno,MJ Hospital Universitario Virgen de la Victoria, Málaga, Spain. Bravo,P Hospital de Fuenlabrada, Fuenlabrada, Madrid, Spain. Guàrdia,R ICO-Hospital Universitari Dr. Josep Trueta, Girona, Spain. Hernández-Rivas,JM Hospital Universitario de Salamanca, Salamanca, Spain. García-Guiñón,A Hospital Universitari Arnau de Vilanova, Lleida, Spain. Piernas,S Hospital Universitari Parc Taulí, Sabadell, Barcelona, Spain. |
| بيانات النشر: | Springer Verlag |
| سنة النشر: | 2017 |
| المجموعة: | Sistema Sanitario Público de Andalucía (SSPA): Repositorio |
| مصطلحات موضوعية: | Neoplasia, Acute lymphoblastic leukemia relapse, Central nervous system, Mutation analysis, Humanos, Mesilato de imatinib, Mutación, Leucemia-Linfoma linfoblástico de células precursoras, Proteínas proto-oncogénicas c-bcr, Recurrencia, Médula ósea, Evolución clonal, ADN complementario, Secuenciación de nucleótidos de alto rendimiento, BCR-ABL1, Medical Subject Headings::Anatomy::Hemic and Immune Systems::Immune System::Bone Marrow, Medical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Clonal Evolution, Medical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA::DNA, Single-Stranded::DNA, Complementary, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencing, Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans, Medical Subject Headings::Chemicals and Drugs::Organic Chemicals::Amides::Benzamides::Imatinib Mesylate, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation, Medical Subject Headings::Diseases::Neoplasms::Neoplasms by Histologic Type::Leukemia::Leukemia, Lymphoid::Precursor Cell Lymphoblastic Leukemia-Lymphoma, Medical Subject Headings::Chemicals and Drugs::Amino Acids |
| الوصف: | We investigated the frequency, predictors, and evolution of acute lymphoblastic leukemia (ALL) in patients with CNS relapse and introduced a novel method for studying BCR-ABL1 protein variants in cDNA from bone marrow (BM) and cerebrospinal fluid (CSF) blast cells. A total of 128 patients were analyzed in two PETHEMA clinical trials. All achieved complete remission after imatinib treatment. Of these, 30 (23%) experienced a relapse after achieving complete remission, and 13 (10%) had an isolated CNS relapse or combined CNS and BM relapses. We compared the characteristics of patients with and without CNS relapse and further analyzed CSF and BM samples from two of the 13 patients with CNS relapse. In both patients, classical sequencing analysis of the kinase domain of BCR-ABL1 from the cDNA of CSF blasts revealed the pathogenic variant p.L387M. We also performed ultra-deep next-generation sequencing (NGS) in three samples from one of the relapsed patients. We did not find the mutation in the BM sample, but we did find it in CSF blasts with 45% of reads at the time of relapse. These data demonstrate the feasibility of detecting BCR-ABL1 mutations in CSF blasts by NGS and highlight the importance of monitoring clonal evolution over time. ; This work was supported by the Fundación CRIS and Red Temática de Investigación Cooperativa en Cáncer (RTICC), Instituto de Salud Carlos III (Ref.: RD12/0036/0061). ; Yes |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 0939-5555 1432-0584 |
| العلاقة: | https://link.springer.com/article/10.1007%2Fs00277-017-3002-1Test; Sanchez R, Ayala R, Alonso RA, Marínez MP, Ribera J, García O, et al. Clinical characteristics of patients with central nervous system relapse in BCR-ABL1-positive acute lymphoblastic leukemia: the importance of characterizing ABL1 mutations in cerebrospinal fluid. Ann Hematol. 2017 Apr 27.; http://hdl.handle.net/10668/2672Test |
| DOI: | 10.1007/s00277-017-3002-1 |
| الإتاحة: | https://doi.org/10.1007/s00277-017-3002-1Test http://hdl.handle.net/10668/2672Test |
| حقوق: | open access |
| رقم الانضمام: | edsbas.DBB4F315 |
| قاعدة البيانات: | BASE |
| تدمد: | 09395555 14320584 |
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| DOI: | 10.1007/s00277-017-3002-1 |