Ultradeep targeted sequencing reveals low allele frequencies of somatic JAK2 and MPL variants in patients with abdominal
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LETTER TO THE EDITOR
Open Access
Ultradeep targeted sequencing reveals low allele frequencies of somatic JAK2 and MPL variants in patients with abdominal vein thromboses: results of an ongoing prospective prevalence study in Mecklenburg-West Pomerania Luise Grunwald, Christina Grosse-Thie, Sina Sender, Gudrun Knuebel, Saskia Krohn, Catrin Roolf, Christian Junghanss, Larissa Henze and Hugo Murua Escobar*
Abstract Myeloproliferative neoplasms are characterized by mutations in JAK2, MPL and CALR genes. Commonly in diagnostics and previous studies mainly sequencing and common PCR techniques under conventional detection limits are used. Splanchnic vein thromboses are rare, but often appear associated with myeloproliferative neoplasms and represent serious complications. Herein, blood from patients with abdominal vein thromboses in Mecklenburg-West Pomerania (federal district of northern Germany), included in an ongoing prospective prevalence study, was analyzed by next generation sequencing representing the complete protein coding regions of JAK2, MPL and CALR genes with a coverage of > 2000 reads, therefore an ultradeep targeting approach. JAK2 V617F mutations were detected in 11/44 patients. In four of these cases allele frequencies ranged below the conventional cut off of 2%. MPL W515R was detected in 3/44 cases in low frequencies. Very low allele frequencies of JAK2 and MPL variants in patients with abdominal vein thromboses may indicate early manifestations of myeloproliferative neoplasms. Keywords: Molecular genetics, Blood coagulation, Myeloproliferative neoplasms, Splanchnic vein thrombosis, Next generation sequencing, Ultradeep targeted sequencing, Low variant allele frequencies, JAK2, MPL
* Correspondence: [email protected] Department of Medicine, Clinic III - Hematology, Oncology, Palliative Medicine, Rostock University Medical Center, University of Rostock, Ernst-Heydemann-Str. 6, D-18055 Rostock, Germany © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Grunwald et al
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