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Allele-specific wild-type blocker quantitative PCR for highly sensitive detection of rare JAK2 p.V617F point mutation in primary myelofibrosis as an appropriate tool for the monitoring of molecular remission following therapy
  1. Udo Siebolts1,2,
  2. Thoralf Lange3,
  3. Dietger Niederwieser3,
  4. Claudia Wickenhauser1
  1. 1Institute of Pathology, University of Leipzig, Leipzig, Germany
  2. 2Centre for Molecular Medicine, University of Cologne (CMMC), Cologne, Germany
  3. 3Department of Haematology/Oncology, University of Leipzig, Leipzig, Germany
  1. Correspondence to Udo Siebolts, Institute of Pathology, University of Leipzig, Liebigstrasse 26, Leipzig 04103, Germany; udo.siebolts{at}uniklinik-leipzig.de

Abstract

Screening of JAK2 V617F point mutation becomes more and more important in monitoring of JAK2 positive MPN following stem cell transplantation. In an attempt to achieve the required high sensitivity (1:105), specifity and robustness we created an approach applicable on bone marrow biopsies where we adapted the principle of wild-type blocker PCR with allele-specific Q-PCR. The significance of the assay was demonstrated on a retrospective series of sequential bone marrow biopsies as diagnosis of molecular relapse now preceded the diagnosis of clinical relapse by far. This method offers the urgently needed tool for a systematic molecular analysis of sequential biopsies in the course of stem cell transplantation to develop guidelines for the management of these patients.

  • JAK2 p.V617F point mutation
  • minimal residual disease
  • molecular pathology
  • myeloproliferative disease
  • myeloproliferative neoplasms
  • stem cell transplantation
  • stem cell transplants

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Footnotes

  • Competing interests None.

  • Ethics approval Ethics approval was obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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