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Quantification of the Mutant CALR Allelic Burden by Digital PCR: Application to Minimal Residual Disease Evaluation after Bone Marrow Transplantation.
Mansier, Olivier; Migeon, Marina; Saint-Lézer, Arnaud; James, Chloé; Verger, Emmanuelle; Robin, Marie; Socié, Gérard; Bidet, Audrey; Mahon, François-Xavier; Cassinat, Bruno; Lippert, Eric.
Afiliação
  • Mansier O; Hematology Laboratory, CHU de Bordeaux, Bordeaux, France; Leukemic Hematopoiesis and Therapeutic Targets Laboratory, Biothérapie des maladies génétiques et cancers, Université de Bordeaux, Bordeaux, France.
  • Migeon M; Hematology Laboratory, CHU de Bordeaux, Bordeaux, France.
  • Saint-Lézer A; Service of Blood Diseases, CHU de Bordeaux, Bordeaux, France.
  • James C; Hematology Laboratory, CHU de Bordeaux, Bordeaux, France; Cardiovascular Adaptation to Ischemia, Université de Bordeaux, Bordeaux, France.
  • Verger E; Cell Biology Service, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Robin M; Hematology Transplants Service, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Socié G; Hematology Transplants Service, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Bidet A; Hematology Laboratory, CHU de Bordeaux, Bordeaux, France.
  • Mahon FX; Hematology Laboratory, CHU de Bordeaux, Bordeaux, France; Leukemic Hematopoiesis and Therapeutic Targets Laboratory, Biothérapie des maladies génétiques et cancers, Université de Bordeaux, Bordeaux, France.
  • Cassinat B; Cell Biology Service, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Lippert E; Hematology Laboratory, CHU de Bordeaux, Bordeaux, France; Leukemic Hematopoiesis and Therapeutic Targets Laboratory, Biothérapie des maladies génétiques et cancers, Université de Bordeaux, Bordeaux, France. Electronic address: eric.lippert@univ-brest.fr.
J Mol Diagn ; 18(1): 68-74, 2016 Jan.
Article em En | MEDLINE | ID: mdl-26596525
ABSTRACT
With the recent discovery of CALR mutations, >80% of patients with myeloproliferative neoplasms carry a phenotype-driving mutation. For JAK2 V617F, the most frequent mutation in myeloproliferative neoplasms, accurate determination of mutational loads is of interest at diagnosis, for phenotypic and prognostic purposes, and during follow-up for minimal residual disease assessment. We developed a digital PCR technique that allowed the accurate determination of CALR allelic burdens for the main mutations (types 1 and 2). Compared with the commonly used fluorescent PCR product analysis, digital PCR is more precise, reproducible, and accurate. Furthermore, this method reached a very high sensitivity. We detected at least 0.025% CALR mutants. It can thus be used for patient characterization at diagnosis and for minimal residual disease monitoring. When applied to patients with primary myelofibrosis who underwent hematopoietic stem cell transplant, the digital PCR detected low levels of minimal residual disease. After negativation of the mutational load in all patients, the disease reappeared at a low level in one patient, preceding hematologic relapse. In conclusion, digital PCR adapted to type 1 and 2 CALR mutations is an inexpensive, highly precise, and sensitive technique suitable for evaluation of myeloproliferative neoplasm patients during follow-up.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Reação em Cadeia da Polimerase / Transplante de Medula Óssea / Neoplasia Residual / Transplante de Células-Tronco Hematopoéticas / Calreticulina / Mielofibrose Primária Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Reação em Cadeia da Polimerase / Transplante de Medula Óssea / Neoplasia Residual / Transplante de Células-Tronco Hematopoéticas / Calreticulina / Mielofibrose Primária Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França