Detecting <i>CALR</i> mutations in splanchnic vein thrombosis: Who and how?

Langabeer, Stephen E.

doi:10.2478/jtim-2018-0015

Cited by 3 publications

(2 citation statements)

References 29 publications

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“…3 JAK2 V617F has also been detected in healthy volunteers 4,5 and patients with cardiovascular diseases, 6 venous thromboses, 7 splanchnic vein thromboses, 8 and apoplexias, 9 all vascular complications associated with MPN. Few studies have assessed CALR in other disease entities, [9][10][11][12][13][14][15] with only rare detection of CALR in patients with splanchnic vein thrombosis 14 and cerebral venous thrombosis. 15 JAK2 V617F is also more prevalent among smokers, 16 and smoking has been suggested to be a risk factor for MPN development [17][18][19][20][21] and other related myeloid neoplasias [22][23][24] due to the chronic inflammatory stimulus.…”

Section: Introductionmentioning

confidence: 99%

Prevalence and phenotypes of JAK2 V617F and calreticulin mutations in a Danish general population

Cordua

Kjær

Skov

et al. 2019

Blood

153

139

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The JAK2 V617F and calreticulin mutations (CALR) are frequent within myeloproliferative neoplasms (MPNs). JAK2 V617F has been detected in the general population, but no studies have previously investigated the CALR prevalence. Thus, we aimed to determine the CALR and JAK2 V617F population prevalence and assess the biochemical profile and lifestyle factors in mutation-positive individuals with and without MPN. 19 958 eligible participants, enrolled from 2010-2013, from the Danish General Suburban Population Study were screened for JAK2 V617F and CALR by droplet digital polymerase chain reaction with (3.2%) mutation positives of which 16 (2.5%) had MPN at baseline. Of 645 participants, 613 were JAK2 V617F positive, and 32 were CALR positive, corresponding to a population prevalence of 3.1% (confidence interval [CI], 2.8-3.3) and 0.16% (CI, 0.11-0.23), respectively. Increasing age, smoking, and alcohol were risk factors for the mutations. JAK2 V617F positives with and without MPN presented elevated odds for prevalent venous thromboembolism. The odds ratio for a diagnosis of MPN per percentage allele burden was 1.14 (95% CI, 1.09-1.18; P = 1.6 × 10−10). Mutation positives displayed higher blood cell counts than nonmutated participants, and 42% of mutation positives without MPN presented elevation of ≥1 blood cell counts; 80 (13%) even presented blood cell counts in accordance with current MPN diagnostic criteria. In conclusion, we present a novel population prevalence of CALR and a JAK2 V617F prevalence that is 3 to 30 times higher compared with less sensitive methods. Mutation-positive non-MPNs with elevated blood cell counts raise concerns of MPN underdiagnosis in the population.

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Section: Introductionmentioning

confidence: 99%

Prevalence and phenotypes of JAK2 V617F and calreticulin mutations in a Danish general population

Cordua

Kjær

Skov

et al. 2019

Blood

153

139

View full text Add to dashboard Cite

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“…Although all of the reported cases in two large series expressed CD117, the patients with metastatic tumors had a poor response to imatinib. NF-1-associated GISTs are usually KIT / PDGFRA wild-type, although sporadic KIT / PDGFRA mutations have been reported in some cases[4,10,11].…”

Section: Discussionmentioning

confidence: 99%

KIT and platelet-derived growth factor receptor α wild-type gastrointestinal stromal tumor associated with neurofibromatosis type 1: Two case reports

Kou

Zhang

et al. 2019

WJCC

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BACKGROUNDGastrointestinal stromal tumors (GISTs) associated with neurofibromatosis are uncommon compared to their gastrointestinal counterparts. Patients with neurofibromatosis type 1 (NF-1) have an increased risk of developing gastrointestinal tumors, including rare types such as GIST.CASE SUMMARYA 60-year-old male Chinese patient was diagnosed with NF-1 10 years ago and presented with upper abdominal discomfort and black stools. Endoscopic ultrasonography and an enhanced abdominal computed tomography scan revealed a mass located 4 cm from the muscular layer of the descending duodenum. A 59-year-old Chinese woman who was diagnosed with NF-1 25 years ago presented with sudden unconsciousness and black stools. Multiple masses in the duodenum were noted by echogastroscopy and an enhanced abdominal computed tomography scan. Both patients presented with cutaneous neurofibromas. The histologic examination of tumors from both patients revealed spindle cells and low mitotic activity. Immunohistochemically, the tumor cells showed strong positivity for KIT (CD117), DOG-1, CD34, and Dehydrogenase Complex Subunit B, and negativity for SMA, desmin, S-100, and β-catenin. None of the six tumors from two patients had KIT exon 9, 11, 13, or 17 or platelet-derived growth factor receptor α exon 12 or 18 mutation, which is a typical finding for sporadic GISTs. None of the six tumors from the two patients had a BRAFV600E mutation. The patients were alive and well during the follow-up period (range: 0.6-5 yr).CONCLUSIONThere have been only a few previous reports of GISTs associated with NF-1. Although GISTs associated with NF-1 have morphologic and immunohistochemical similarities with GISTs, the pathogenesis, incidence, genetic background, and prognosis are not completely known. A medical history of NF-1 in a patient who has gastrointestinal bleeding or anemia and an intra-abdominal mass with nonspecific computed tomography features may help in diagnosing GIST by virtue of the well-known association of these two entities. Molecular genetic studies of cases indicated that GISTs in NF-1 patients have a different pathogenesis than sporadic GISTs.

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Correlation between intracoronary thrombus components and coronary blood flow after percutaneous coronary intervention for acute myocardial infarction at different onset time

Zhang

Liu

et al. 2019

WJCC

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BACKGROUND Acute myocardial infarction (AMI) is a leading cause of mortality. Early reperfusion to restore blood flow is crucial to successful treatment. In the current reperfusion regimen, an increasing number of patients have benefited from direct percutaneous coronary intervention (PCI). In order to understand whether there is a correlation between the components of coronary thrombosis and the absence of reflow or slow blood flow after coronary stent implantation in direct PCI, we collected data on direct PCI cases in our hospital between January 2016 and November 2018. AIM To investigate the correlation between intracoronary thrombus components and coronary blood flow after stent implantation in direct PCI in AMI. METHODS We enrolled 154 patients (85 male and 69 female, aged 36–81 years) with direct PCI who underwent thrombus catheter aspiration within < 3, 3–6 or 6–12 h of onset of AMI between January 2016 and November 2018. The thrombus was removed for pathological examination under a microscope. The patients of the three groups according to the onset time of AMI were further divided into those with a white or red thrombus. The thrombolysis in myocardial infarction (TIMI) blood flow after stent implantation was recorded based on digital subtraction angiography during PCI. The number of patients with no-reflow and slow blood flow in each group was counted. Statistical analysis was performed based on data such as onset time, TIMI blood flow. RESULTS There were significant differences in thrombus components between the patients with acute ST-segment elevation myocardial infarction and non-ST-segment elevation myocardial infarction ( P < 0.01). In the group with PCI < 3 h after onset of AMI, there was no significant difference in the incidence of no-reflow and slow-flow between the white and red thrombus groups. In the groups with PCI 3-6 and 6-12 h after onset of AMI, there was a significant difference in the incidence of no-reflow and slow-flow between the white and red thrombus groups ( P < 0.01). There was a significant correlation between the onset time of AMI and the occurrences of no-reflow and slow blood flow during PCI ( P < 0.01). CONCLUSION In direct PCI, the onset time of AMI and color of coronary thrombus are often used to predict whether there will be no reflow or slow blood flow after stent implantation.

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Detecting CALR mutations in splanchnic vein thrombosis: Who and how?

Cited by 3 publications

References 29 publications

Prevalence and phenotypes of JAK2 V617F and calreticulin mutations in a Danish general population

Prevalence and phenotypes of JAK2 V617F and calreticulin mutations in a Danish general population

KIT and platelet-derived growth factor receptor α wild-type gastrointestinal stromal tumor associated with neurofibromatosis type 1: Two case reports

Correlation between intracoronary thrombus components and coronary blood flow after percutaneous coronary intervention for acute myocardial infarction at different onset time

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