Selective testing for calreticulin gene mutations in patients with splanchnic vein thrombosis: A prospective cohort study | SNFGE.org - Société savante médicale française d'hépato-gastroentérologie et d’oncologie digestive
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Journal of Hepatology
  2017/09  
 
  2017 Sep;67(3):501-507.  
  doi: 10.1016/j.jhep.2017.04.021.  
 
  Selective testing for calreticulin gene mutations in patients with splanchnic vein thrombosis: A prospective cohort study  
 
  Poisson J, Plessier A, Kiladjian JJ, Turon F, Cassinat B, Andreoli A, De Raucourt E, Goria O, Zekrini K, Bureau C, Lorre F, Cervantes F, Colomer D, Durand F, Garcia-Pagan JC, Casadevall N, Valla DC, Rautou PE, Marzac C; French national network for vascular liver diseases.  
  https://www.ncbi.nlm.nih.gov/pubmed/28483676  
 
 

Abstract

BACKGROUND AND AIMS:

Myeloproliferative neoplasms (MPN) are the leading cause of splanchnic vein thrombosis (SVT). Janus kinase 2 gene (JAK2)V617F mutations are found in 80 to 90% of patients with SVT and MPN. Mutations of the calreticulin (CALR) gene have also been reported. However, as their prevalence ranges from 0 to 2%, the utility of routine testing is questionable. This study aimed to identify a group of patients with SVT at high risk of harboring CALR mutations and thus requiring this genetic testing.

METHODS:

CALR, JAK2V617F and thrombopoietin receptor gene (MPL) mutations were analysed in a test cohort that included 312 patients with SVT. Criteria to identify patients at high risk of CALR mutations in this test cohort was used and evaluated in a validation cohort that included 209 patients with SVT.

RESULTS:

In the test cohort, 59 patients had JAK2V617F, five had CALR and none had MPL mutations. Patients with CALR mutations had higher spleen height and platelet count than patients without these mutations. All patients with CALR mutations had a spleen height ⩾16cm and platelet count >200×109/L. These criteria had a positive predictive value of 56% (5/9) and a negative predictive value of 100% (0/233) for the identification of CALR mutations. In the validation cohort, these criteria had a positive predictive value of 33% (2/6) and a negative predictive value of 99% (1/96).

CONCLUSION:

CALR mutations should be tested in patients with SVT, a spleen height ⩾16cm, platelet count >200×109/L, and no JAK2V617F. This strategy avoids 96% of unnecessary CALR mutations testing. Lay summary: Mutations of the CALR gene are detected in 0 to 2% of patients with SVT, thus the utility of systematic CALR mutation testing to diagnose MPN is questionable. This study demonstrates that CALR mutations testing can be restricted to patients with SVT, a spleen height ⩾16cm, a platelet count >200×109/L, and no JAK2V617F. This strategy avoids 96% of unnecessary CALR mutations testing.

 

 
Question posée
 
L’indication de la recherche des mutations du gène de la calréticuline (CALR) chez les patients atteints de thrombose veine splanchnique (SVT) peut être sélective.
 
Question posée
 
Les mutations de la CALR doivent être testées chez les patients atteints de SVT, si la rate est ⩾16 cm, si un les plaquettes sont > 200 × 109 / L et si aucun mutation JAK2V617F sont présents. Cette stratégie évite 96% des tests de mutation CALR inutiles.
 
Commentaires

Pas de commentaire sur cette stratégie diagnostique pertinente.

 
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