2019
DOI: 10.1007/s12185-019-02725-8
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Essential thrombocytosis attributed to JAK2-T875N germline mutation

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Cited by 11 publications
(15 citation statements)
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“…Located in exon 18. Yoshimitsu et al 2019 [ 54 ] R867Q HT, progression to PV suggested Kinase domain affected. Furthermore described as somatic mutation in ALL.…”
Section: Classification Of Pediatric Thrombocytosismentioning
confidence: 99%
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“…Located in exon 18. Yoshimitsu et al 2019 [ 54 ] R867Q HT, progression to PV suggested Kinase domain affected. Furthermore described as somatic mutation in ALL.…”
Section: Classification Of Pediatric Thrombocytosismentioning
confidence: 99%
“…Vascular complications were reported in three > 40-year old members of a family with germline JAK2 -V617I [ 42 ]. Moreover, a first-degree relative of a patient with germline JAK2-T875N and chronic thrombocytosis was reported to have suffered from cerebral infarction at 51 years [ 54 ].…”
Section: Classification Of Pediatric Thrombocytosismentioning
confidence: 99%
See 1 more Smart Citation
“…In contrast to previously described JAK2 R867Q or JAK2 S775R/R938Q mutations, JAK2 T875N‐expressing cells were more sensitive to commercial ruxolitinib treatment. The following data suggests the need to determine optimal dosage of ruxolitinib based on the mutation site for patients with MPNs with JAK2 mutations other than JAK2 V617F 34 …”
Section: Figurementioning
confidence: 99%
“…In many of the families, there is no association with thromboembolic events or it is stated to be rare 32 . However, the JAK2V617I mutation in a family is associated with three affected individuals with vascular events occurring under the age of 40 years 29 and the JAK2 T875N mutation is associated with a family history of cerebral infarction in presumed affected individuals 34 . The MPL mutation S505N in an Italian family was associated with a high rate of thrombosis 17 …”
Section: Clinical Consequencesmentioning
confidence: 99%