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Annals of Hematology

, Volume 96, Issue 8, pp 1417–1418 | Cite as

Co-occurrence of type I CALR and two MPL mutations in patient with primary myelofibrosis

  • Hammad Tashkandi
  • Erika M. Moore
  • Benjamin Tomlinson
  • Teresa Goebel
  • Navid SadriEmail author
Letter to the Editor

Dear Editor,

Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by recurrent somatic mutations in JAK2, CALR, and MPL genes. Although these mutations were initially reported to be mutually exclusive in MPN, several studies have reported the coexistence of JAK2 and CALR [1, 2, 3, 4, 5] as well as JAK2 and MPL mutations [6, 7]. Here, we report for the first time, to the best of our knowledge, a case of PMF with coexistence of CALR and two MPL mutations.

A 52-year-old woman being evaluated for a knee replacement was found to have thrombocytosis and underwent a bone marrow biopsy at an outside institution in 2013 which demonstrated features of prefibrotic PMF (Fig. 1a–c). She was given a diagnosis of essential thrombocytosis (ET) based on her clinical presentation. By report, molecular studies for JAK2 and MPL mutations were negative by Sanger sequencing. CALR mutation analysis was not performed at that time as the association between CALRmutations and MPNs...

Keywords

Sanger Sequencing Bone Marrow Biopsy Reticulin Myeloproliferative Neoplasm Variant Allele Frequency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  1. 1.Department of Pathology and Laboratory MedicineCase Western Reserve University School of MedicineClevelandUSA
  2. 2.Department of Hematology and OncologyCase Western Reserve University School of MedicineClevelandUSA
  3. 3.University Hospitals Cleveland Medical CenterClevelandUSA

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