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Atypical haematological presentation in a case of polycythaemia vera with a new variant mutation detected in exon 12: c.1605G>T (p.Met535Ile)
- Source :
- Journal of Clinical Pathology. 71:180-184
- Publication Year :
- 2017
- Publisher :
- BMJ, 2017.
-
Abstract
- One of the major genetic insights into the pathogenesis of polycythaemia vera included the identification of the somatic point gain-of-function mutations in Janus kinase 2 gene—first JAK2V617F on exon 14, present in 95%–97% of the cases, and later on exon 12. In the literature, we can find some reported studies where different exon 12 mutations are identified. Unlike patients with JAK2V617F mutation in exon 14, the mutation at exon 12 is not usually associated with an increase in the three haematopoietic series (erythrocytosis, leucocytosis and thrombocytosis). It appears to be associated with a distinct syndrome, mostly characterised by isolated and more marked erythrocytosis, independently of the mutational variant. We report here the case of a patient who is JAK2exon 12 positive, presenting a novel mutation—c.1605G>T (p.Met535Ile)—associated with c.1612C>T (p.His538Tyr) mutation previously described, evidencing an atypical clinical phenotype.
- Subjects :
- Genetic Markers
Polycythaemia
medicine.medical_specialty
Population
Biology
Pathology and Forensic Medicine
03 medical and health sciences
Exon
0302 clinical medicine
Molecular genetics
medicine
Humans
Point Mutation
education
Polycythemia Vera
education.field_of_study
Janus kinase 2
Thrombocytosis
Essential thrombocythemia
General Medicine
Janus Kinase 2
Middle Aged
medicine.disease
Molecular biology
Phenotype
030220 oncology & carcinogenesis
Mutation (genetic algorithm)
biology.protein
Female
030215 immunology
Subjects
Details
- ISSN :
- 14724146 and 00219746
- Volume :
- 71
- Database :
- OpenAIRE
- Journal :
- Journal of Clinical Pathology
- Accession number :
- edsair.doi.dedup.....658d6c15f53a60f26b4cf3fb4f4280c1