دورية أكاديمية

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

التفاصيل البيبلوغرافية
العنوان: Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
المؤلفون: Nada Maaziz, Céline Garrec, Fabrice Airaud, Victor Bobée, Nathalie Contentin, Emilie Cayssials, Antoine Rimbert, Bernard Aral, Stéphane Bézieau, Betty Gardie, François Girodon
المصدر: Genes, Vol 14, Iss 5, p 1066 (2023)
بيانات النشر: MDPI AG, 2023.
سنة النشر: 2023
المجموعة: LCC:Genetics
مصطلحات موضوعية: erythrocytosis, JAK2 mutation, germline mutation, familial erythrocytosis, Genetics, QH426-470
الوصف: The discovery in 2005 of the JAK2 V617F gain-of-function mutation in myeloproliferative neoplasms and more particularly in polycythemia vera has deeply changed the diagnostic and therapeutic approaches to polycythemia. More recently, the use of NGS in routine practice has revealed a large number of variants, although it is not always possible to classify them as pathogenic. This is notably the case for the JAK2 E846D variant for which for which questions remain unanswered. In a large French national cohort of 650 patients with well-characterized erythrocytosis, an isolated germline heterozygous JAK2 E846D substitution was observed in only two cases. For one of the patients, a family study could be performed, without segregation of the variant with the erythrocytosis phenotype. On the other hand, based on the large UK Biobank resource cohort including more than half a million UK participants, the JAK2 E846D variant was found in 760 individuals, associated with a moderate increase in hemoglobin and hematocrit values, but with no significant difference to the mean values of the rest of the studied population. Altogether, our data as well as UK Biobank cohort analyses suggest that the occurrence of an absolute polycythemia cannot be attributed to the sole demonstration of an isolated JAK2 E846D variant. However, it must be accompanied by other stimuli or favoring factors in order to generate absolute erythrocytosis.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2073-4425
العلاقة: https://www.mdpi.com/2073-4425/14/5/1066Test; https://doaj.org/toc/2073-4425Test
DOI: 10.3390/genes14051066
الوصول الحر: https://doaj.org/article/8b0b9d390bca42359d461eb28501e199Test
رقم الانضمام: edsdoj.8b0b9d390bca42359d461eb28501e199
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20734425
DOI:10.3390/genes14051066