دورية أكاديمية
Abdominal venous thromboses: detection of the JAK2 p.V617F mutation by next-generation ultradeep sequencing-A prevalence study of patients in Mecklenburg-West Pomerania (2017-2021).
العنوان: | Abdominal venous thromboses: detection of the JAK2 p.V617F mutation by next-generation ultradeep sequencing-A prevalence study of patients in Mecklenburg-West Pomerania (2017-2021). |
---|---|
المؤلفون: | Henze L; Department of Medicine, Clinic III-Hematology, Oncology, and Palliative Medicine, Rostock University Medical Center, Rostock, Germany., Grunwald L; Department of Medicine, Clinic III-Hematology, Oncology, and Palliative Medicine, Rostock University Medical Center, Rostock, Germany., Felser S; Department of Medicine, Clinic III-Hematology, Oncology, and Palliative Medicine, Rostock University Medical Center, Rostock, Germany., Witte M; Department of General, Visceral, Thoracic, Vascular, and Transplant Surgery, Rostock University Medical Center, Rostock, Germany., Grosse-Thie C; Department of Medicine, Clinic III-Hematology, Oncology, and Palliative Medicine, Rostock University Medical Center, Rostock, Germany., Roolf C; Department of Medicine, Clinic III-Hematology, Oncology, and Palliative Medicine, Rostock University Medical Center, Rostock, Germany., Murua Escobar H; Department of Medicine, Clinic III-Hematology, Oncology, and Palliative Medicine, Rostock University Medical Center, Rostock, Germany., Junghanss C; Department of Medicine, Clinic III-Hematology, Oncology, and Palliative Medicine, Rostock University Medical Center, Rostock, Germany. |
المصدر: | Frontiers in medicine [Front Med (Lausanne)] 2024 Jan 11; Vol. 10, pp. 1344769. Date of Electronic Publication: 2024 Jan 11 (Print Publication: 2023). |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE |
أسماء مطبوعة: | Original Publication: Lausanne, Switzerland : Frontiers Media S.A., [2014]- |
مستخلص: | Background: Abdominal venous thromboses are rare thrombotic events with heterogeneous etiologies. They are related to myeloproliferative neoplasms (MPNs) in some patients and can occur as first signs of the disease. MPNs are characterized by mutations in the genes of Janus kinase 2 (JAK2), myeloproliferative leukemia virus oncogene (MPL), and calreticulin (CALR). Methods: Within the prospective trial "Prevalence of JAK2 mutations in patients with abdominal venous thromboses" (JAK2 MV study; German Clinical Trials Register: DRKS00026943), the peripheral blood of patients with abdominal venous thromboses in Mecklenburg-West Pomerania, a federal state located in north-east Germany, was analyzed by next-generation ultradeep sequencing for MPN-associated mutations. Clinical characteristics and blood cell counts were also of interest. The primary endpoint was the detection of the mutation JAK2 p.V617F. Secondary endpoints were the detection of other acquired variants of JAK2, as well as MPL and CALR. Results: A total of 68 patients with abdominal venous thromboses were included from February 2017 to January 2021, with splanchnic veins affected in 65 patients. The mutation JAK2 p.V617F was present in 13 patients (19%), with four patients showing low variant allele frequencies (VAF 0.1% to 1.9%). The time interval from the thrombotic event to analysis was longer for patients with the mutation. The mutation MPL p.W515R was detected in three cases, all of them with low VAF. One patient among them had a concurrent mutation of JAK2 p.V617F. The mutations CALR type I or type II were not found. Discussion: By analyzing peripheral blood for the mutation JAK2 p.V617F, an important cause of these rare thrombotic events can be identified. The development of a diagnostic workup with next-generation ultradeep sequencing for the analysis of the JAK2 p.V617F mutation and further mutations has the potential to better understand the etiology of abdominal venous thromboses in individual patients in regional clinical care, as abdominal venous thromboses are diagnosed by various medical disciplines. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision. (Copyright © 2024 Henze, Grunwald, Felser, Witte, Grosse-Thie, Roolf, Murua Escobar and Junghanss.) |
References: | Blood. 2023 Apr 20;141(16):1909-1921. (PMID: 36347013) Mol Biol Rep. 2023 Jul;50(7):5687-5695. (PMID: 37209326) JAMA Intern Med. 2015 Sep;175(9):1474-80. (PMID: 26168152) Int J Mol Sci. 2023 Jan 23;24(3):. (PMID: 36768584) Blood. 2016 May 19;127(20):2391-405. (PMID: 27069254) Br J Surg. 2008 Oct;95(10):1245-51. (PMID: 18720461) Blood. 2020 Jan 30;135(5):326-334. (PMID: 31917405) Biomolecules. 2022 Feb 11;12(2):. (PMID: 35204792) Blood Adv. 2020 Aug 11;4(15):3708-3715. (PMID: 32777065) Thromb Res. 2013 Aug;132(2):e99-e104. (PMID: 23916380) Liver Int. 2009 Feb;29(2):253-9. (PMID: 18694401) Thromb Haemost. 2015 Jun;113(6):1381-2. (PMID: 25761617) Front Oncol. 2023 Jan 04;12:1056786. (PMID: 36686756) J Thromb Thrombolysis. 2016 Aug;42(2):267-71. (PMID: 26831481) Blood Adv. 2021 Aug 10;5(15):2969-2981. (PMID: 34342643) Blood Adv. 2022 Jun 28;6(12):3569-3578. (PMID: 35439303) Leukemia. 2017 Sep;31(9):1845-1854. (PMID: 28529308) Sci Transl Med. 2018 Apr 11;10(436):. (PMID: 29643232) Br J Haematol. 2018 Oct;183(2):310-313. (PMID: 29048104) Blood Cancer J. 2016 Nov 4;6(11):e493. (PMID: 27813534) Ann Hematol. 2023 Jun;102(6):1409-1420. (PMID: 37079068) Ther Adv Hematol. 2017 Mar;8(3):107-118. (PMID: 28246554) Ann Hematol. 2020 Apr;99(4):791-798. (PMID: 32086587) Ann Hematol. 2019 Jan;98(1):111-118. (PMID: 30259120) Blood. 2014 Jun 12;123(24):3714-9. (PMID: 24786775) Am Soc Clin Oncol Educ Book. 2019 Jan;39:400-410. (PMID: 31099654) J Thromb Haemost. 2007 Jan;5(1):55-61. (PMID: 17059429) Hematology Am Soc Hematol Educ Program. 2021 Dec 10;2021(1):384-389. (PMID: 34889429) Hematology Am Soc Hematol Educ Program. 2021 Dec 10;2021(1):92-99. (PMID: 34889361) Biomark Res. 2020 Dec 14;8(1):73. (PMID: 33317584) Blood. 2017 Feb 9;129(6):667-679. (PMID: 28028029) Proc Natl Acad Sci U S A. 2014 Feb 11;111(6):2295-300. (PMID: 24469804) Cells. 2021 Dec 16;10(12):. (PMID: 34944059) Internist (Berl). 2017 Jan;58(1):82-89. (PMID: 27573529) Blood. 2021 Mar 4;137(9):1233-1240. (PMID: 32911539) J Clin Invest. 2018 Oct 1;128(10):4359-4371. (PMID: 30024857) Blood. 2022 Sep 15;140(11):1200-1228. (PMID: 35767897) |
فهرسة مساهمة: | Keywords: JAK2 mutation; abdominal venous thromboses; anticoagulation; splanchnic vein thrombosis; ultradeep sequencing |
تواريخ الأحداث: | Date Created: 20240126 Latest Revision: 20240128 |
رمز التحديث: | 20240128 |
مُعرف محوري في PubMed: | PMC10808308 |
DOI: | 10.3389/fmed.2023.1344769 |
PMID: | 38274463 |
قاعدة البيانات: | MEDLINE |
كن أول من يترك تعليقا!