The relationship between JAK2(V617F) mutation and dermatomyositis—a case report and literature review

2020 ◽  
Author(s):  
Qin Xu ◽  
Xuexiao Jin ◽  
Yu Jiang ◽  
Xin Dang ◽  
Yongmei Han
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
V617f Mutation ◽  
The Relationship

scholarly journals Concomitant Myeloproliferative and Lymphoid Neoplasms in Two Patients Positive for JAK2 V617F Mutation. Case Report and Literature Review

2013 ◽  
Vol 30 (S1) ◽  
pp. 120-123 ◽  
Author(s):  
Adrian P. Trifa ◽  
Andrei Cucuianu ◽  
Radu A. Popp ◽  
Mariana Paţiu ◽  
Cristina Selicean ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
Lymphoid Neoplasms ◽  
V617f Mutation

A Rare Entity in Chronic Myelocytic Leukemia: Coexistence of BCR ABL1 Translocation and JAK2 V617F Mutation. Case Report

2020 ◽  
Vol 2 (4) ◽  
pp. 478-480
Author(s):  
Buğra Sağlam ◽  
Murat Albayrak ◽  
Abdulkerim Yıldız ◽  
Pınar Akyol ◽  
Çiğdem Pala Öztürk ◽  
...  
Keyword(s):  
Case Report ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
Chronic Myelocytic Leukemia ◽  
Rare Entity ◽  
Myelocytic Leukemia ◽  
V617f Mutation

The patient with 5q minus syndrome and JAK2 V617F mutation with the presence of ringed erythroblasts meeting the criteria of RARS-T effectively treated with lenalidomide – A case report

2016 ◽  
Vol 47 (1) ◽  
pp. 29-32
Author(s):  
Marcin Kruszewski ◽  
Adriana Czyż ◽  
Krzysztof Lewandowski ◽  
Monika Prochorec-Sobieszek ◽  
Jarosław Czyż
Keyword(s):  
Case Report ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
V617f Mutation

scholarly journals Essential Thrombocythemia Following Immune thrombocytopenia With JAK2 V617F Mutation: A Case Report

2021 ◽  
Author(s):  
Mehrdad Payandeh ◽  
Mehrnoush Aeinfar ◽  
Kimiya Dadashizadeh ◽  
Saba Yari
Keyword(s):  
Case Report ◽  
Tyrosine Kinase ◽  
Essential Thrombocythemia ◽  
Immune Thrombocytopenia ◽  
Myeloproliferative Neoplasms ◽  
Jak2 V617f ◽  
Bleeding Disorder ◽  
Jak2 V617f Mutation ◽  
Pathogenic Mechanisms ◽  
V617f Mutation

Immune Thrombocytopenia (ITP) is an autoimmune bleeding disorder. Tyrosine Kinase JAK2 (JAK2 V617F) mutation occurs in nearly 60% of Essential Thrombocythemia (ET) patients. Both diseases produce impaired platelet. We describe a case with ET following ITP. So far, only 3 reports described ET following ITP. We report the fourth patient with JAK2 V617F mutation at the onset of ITP presented 20 years ago that needed splenectomy. The association of these two diseases may recommend similar pathogenic mechanisms between Myeloproliferative Neoplasms (MPNs) and ITP that should be further explored.

scholarly journals JAK2 V617F mutation negative erythrocytosis (or how to more simply perform diagnosis and treat a patient with increased hematocrit)

2019 ◽  
Vol 6 ◽  
Author(s):  
Luca Zito ◽  
Roberto Torchio ◽  
Kassem Bannout ◽  
Stefano Ulisciani ◽  
Marco Guglielmo ◽  
...  
Keyword(s):  
Case Report ◽  
General Practitioner ◽  
Physical Examination ◽  
Polycythemia Vera ◽  
Respiratory Function ◽  
Jak2 V617f ◽  
Clinical History ◽  
Respiratory Function Tests ◽  
Jak2 V617f Mutation ◽  
V617f Mutation

This case report focuses on a 71-year old patient affected by unknown dyspnea and erythrocytosis referred by his general practitioner to our center for specialist advice after a hematological examination had excluded polycythemia vera on grounds of negative test for JAK2 V617F / exon 12 mutation. An accurate clinical history and physical examination accompanied by respiratory function tests resulted in diagnosis of JAK2 V617F mutation negative erythrocytosis, and treatment could be started. The discussion examines decisional algorithms when a polyglobulic patient is referred for diagnosis.

scholarly journals Abdominal venous thrombosis presenting in myeloproliferative neoplasm with JAK2 V617F mutation: a case report

2012 ◽  
Vol 6 (1) ◽  
Author(s):  
Naveen Pemmaraju ◽  
James Peter Hamilton ◽  
Andrew M Cameron ◽  
Stephen Sisson ◽  
Alison R Moliterno
Keyword(s):  
Case Report ◽  
Venous Thrombosis ◽  
Myeloproliferative Neoplasm ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
V617f Mutation

scholarly journals Philadelphia‑positive case negative for JAK2 V617F mutation with hyperdiploidic karyotype: A case report

2019 ◽  
Author(s):  
Dragomira Nikolova ◽  
Vera Damyanova ◽  
Vasil Hrischev ◽  
Maria Markova ◽  
Lubomir Mitev ◽  
...  
Keyword(s):  
Case Report ◽  
Jak2 V617f ◽  
Positive Case ◽  
Jak2 V617f Mutation ◽  
V617f Mutation

High Frequency of the JAK2 V617F Mutation in Patients with Trisomy of Chromosome 9.

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 1749-1749
Author(s):  
Hossein Mossafa ◽  
Hamid Belaouni ◽  
Veronique Saada ◽  
Christine Fourcade ◽  
J. Pierre Hurst ◽  
...  
Keyword(s):  
High Frequency ◽  
Chromosome Abnormality ◽  
Jak2 V617f ◽  
Chromosome 9 ◽  
Jak2 V617f Mutation ◽  
Partial Deletion ◽  
Jak2 Mutation ◽  
V617f Mutation ◽  
Relationship Of ◽  
The Relationship

Abstract The previous studies assessing the relationship of cytogenetic abnormalities to JAK2 status have not shown any significant associations, although numbers have generally been too small to make a definitive comment. We therefore assessed the JAK2 V617F mutation status of 337 patients from 39 centers (175 males, 161 females; median age at time of study 71 years old, range 32–98). Patients were classified as follows: 100 with typical MDS, 10 with 5q- syndrome, 17 with AREB-2, 2 with RARS, 13 with RARS-T, 23 with MPD/MDS, 12 with CMML, 142 with typical MPDs, 5 with hypereosinophilic syndrome (HES), 7 with AML with multi-lineage dysplasia from Ph- MPD, 10 with aCML Ph- or MPD/MDS-u and 25 with typical CML Ph+. Bone marrow or blood derived genomic DNA was screened for the JAK2 mutation. The JAK2 V617F mutation was found in 109/337 pts (32%): typical MPD-Ph− (47%) cases, MDS (4.5%), 5q- syndrome (60%), AREB-2 (64%), CMML (42%), MDS/MPD (36%). A clonal cytogenetic abnormality was detected by R-banding in 159/337 cases (47%). The JAK2 mutation was associated with a chromosomal abnormality in 81/159 cases (51%). The most common chromosome abnormality associated with JAK2 mutation was the gain of chromosome 9 (n= 22, Associated with JAK2 mutation: 19/22 cases 86%). The second most common abnormality was partial deletion of 20q (n=30, Associated with JAK2 mutation: 19/30 cases 63%). The partial or complete loss of chromosome 7 (n=16, Associated with JAK2 mutation: 6/11), deletion of 5q- (n=10, Associated with JAK2 mutation: 6/10), gain of chromosome 8 (n=11, Associated with JAK2 mutation: 7/11), partial deletion of 11q (n=8, Associated with JAK2 mutation: 5/8), partial deletion of 12p (n=6 Associated with JAK2 mutation 4/6), partial deletion of 13q (n=5, Associated with JAK2 mutation: 4/5). Patients with trisomy 9 and JAK2 mutation were classified as follows : polycytemia vera (PV) n=4 (100% JAK2 mutated), essential thrombocytemia (ET) n=3 (100% JAK2 mutated), idiopathic myelofibrosis (IMF), n=2 (100% JAK2 mutated), MPD/MDS, n=3 (67% JAK2 mutated), secondary AML post MDS, n=1 (JAK2 mutated), atypical MPD, n=6 (100% JAK2 mutated), MMCL, n=1(JAK2 mutated). The V617 mutation was not found in the case of de novo AML, and 2 typical MDS cases. 9 males, 10 females, the median age: 68 years old, range 40–98 years old, median white cell count (WCC) 11 G/l, range 2.4–50.7 G/l (13/19 pts> 10G/l), median hemoglobin 13.5 g/dl, range 9–20.2 g/dl (5/19 pts> 17g/dl), median platelet count 667G/l range 9–1769 G/l (9/19 pts> 500 G/l). The BCR/ABL transcript (multiplex PCR) was not detected in all of these cases. In this study the gain of chromosome 9 associated with JAK2 V617F mutation was the most frequent chromosome abnormality (100%) observed in typical MPDs and atypical syndrome such as MDS/MPD. In summary, previous studies assessing the relationship of cytogenetic abnormalies to JAK2 status did not show any significant association (ref). The del(20q), del(13q), trisomy 8 and del(5q) are known to be recurring non-specific cytogenetic abnormalities, and some of them are also detectable in patients with JAK2 mutation positive or negative. We describe here a significant association the JAK2 V617F mutation and trisomy of chromosome 9 that was detected in a cohort of patients with gain of chromosome 9. Clearly, in addition to PV, IMF, and ET these associations were found in other disease entities, high frequency in the case of atypical MPDs particularly in the case of aCML. Previously, Campbell et al. reported 10 patients with a trisomy 9, in typical MPDs, all of them were V617F+. A longer follow-up and morphological diagnosis is however necessary to determine the prognostic signification of JAK2 mutation and +9 in the cases of classic myeloproliferative syndromes and atypical syndrome such as MDS/MPD overlap syndrome.

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