Apparent 'JAK2-negative' polycythaemia vera due to compound mutations in exon 14

Ing Soo Tiong; Debora A Casolari; Sarah Moore; Tran Nguyen; Merel J M Van Velzen; Daniela Zantomio; Hamish S Scott; Richard J D'Andrea; Christopher N Hahn; David M Ross

doi:10.1111/bjh.14126

Apparent 'JAK2-negative' polycythaemia vera due to compound mutations in exon 14

Br J Haematol. 2017 Jul;178(2):333-336. doi: 10.1111/bjh.14126. Epub 2016 May 2.

Authors

Ing Soo Tiong^{1

2}, Debora A Casolari^{1

3}, Sarah Moore⁴, Tran Nguyen^{1

3}, Merel J M Van Velzen^{1

3

5}, Daniela Zantomio⁶, Hamish S Scott^{2

3

4}, Richard J D'Andrea^{1

3}, Christopher N Hahn^{2

3

4}, David M Ross^{1

2}

Affiliations

¹ Haematology Directorate, SA Pathology/Royal Adelaide Hospital, Adelaide, Australia.
² School of Medicine, University of Adelaide, Adelaide, Australia.
³ Centre for Cancer Biology, University of South Australia/SA Pathology, Adelaide, Australia.
⁴ Genetics and Molecular Pathology Directorate, SA Pathology, Adelaide, Australia.
⁵ School of Medical Sciences, VUmc, Amsterdam, The Netherlands.
⁶ Department of Clinical Haematology, Austin Hospital, Melbourne, Australia.

PMID: 27136492
DOI: 10.1111/bjh.14126

No abstract available

Keywords: JAK2; compound mutation; myeloproliferative neoplasms; next generation sequencing; polycythaemia vera.

Publication types

Case Reports
Letter

MeSH terms

Adult
Aged
Aged, 80 and over
Alleles
Amino Acid Substitution
Bone Marrow / pathology
DNA Mutational Analysis
Erythrocyte Indices
Exons*
Female
Genotype
Humans
Janus Kinase 2 / genetics*
Male
Middle Aged
Mutation*
Polycythemia Vera / diagnosis*
Polycythemia Vera / genetics*

Substances

JAK2 protein, human
Janus Kinase 2