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Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations.

Abstract：

:The myeloproliferative neoplasms (MPN) are clonal, hematological malignancies that include polycythemia vera, essential thrombocythemia and primary myelofibrosis. While most cases of MPN are sporadic in nature, a familial pattern of inheritance is well recognised. The phenotype and status of the commonly acquired JAK2 V617F, CALR exon 9 and MPL W515L/K mutations in affected individuals from a consecutive series of ten familial MPN (FMPN) kindred are described. Affected individuals display the classical MPN phenotypes together with one kindred identified suggestive of hereditary thrombocytosis. In affected patients the JAK2 V617F mutation is the most commonly acquired followed by CALR exon nine mutations with no MPL W515L/K mutations detected. The JAK2 V617F and CALR exon 9 mutations appear to occur at approximately the same frequency in FMPN as in the sporadic forms of these diseases. The familial nature of MPN may often be overlooked and accordingly more common than previously considered. Characterisation of these FMPN kindred may allow for the investigation of molecular events that contribute to this inheritance.

journal_name

Fam Cancer

journal_title

Familial cancer

authors

Langabeer SE,Haslam K,Linders J,Percy MJ,Conneally E,Hayat A,Hennessy B,Leahy M,Murphy K,Murray M,Ni Ainle F,Thornton P,Sargent J

doi

10.1007/s10689-014-9743-2

subject

Has Abstract

pub_date

2014-12-01 00:00:00

pages

659-63

issue

4

eissn

1389-9600

issn

1573-7292

journal_volume

13

pub_type

杂志文章

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