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Concurrent MPL 515 and JAK2 V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time
Author(s) -
Lasho Terra L.,
Pardanani Animesh,
McClure Rebecca F.,
Mesa Ruben A.,
Levine Ross L.,
Gary Gilliland D.,
Tefferi Ayalew
Publication year - 2006
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2006.06348.x
Subject(s) - myelofibrosis , allele , clone (java method) , biology , mutant , myeloid , genetics , bone marrow , mutation , phenotype , somatic evolution in cancer , immunology , gene
Summary MPL W515L/K and JAK2 V617F can co‐exist in myelofibrosis with myeloid metaplasia (MMM).The chronology of clonal emergence was studied in three such cases using serially stored bone marrow. At diagnosis, a major MPL 515 mutant clone was accompanied by a minor JAK2 V617F clone in all three instances. At 25 time points over a period of 4–8 years, allele burden fluctuated but remained high for MPL W515L/K and low for JAK2 V617F. We conclude that MPL W515L/K and JAK2 V617F are both early events in MMM and allele burden, rather than the mere presence of these mutations, might be relevant to phenotypic variation in myeloproliferative disorders.