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Acquisition of genomic events leading to lymphoblastic transformation in a rare case of myeloproliferative neoplasm with BCR–JAK2 fusion transcript
Author(s) -
Duployez Nicolas,
Nibourel Olivier,
Ducourneau Benoît,
Grardel Nathalie,
Boyer Thomas,
Bories Claire,
Darre Stéphane,
Coiteux Valérie,
Berthon Céline,
Preudhomme Claude,
RocheLestienne Catherine
Publication year - 2016
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.12752
Subject(s) - myeloproliferative neoplasm , breakpoint cluster region , chromosomal translocation , karyotype , snp array , somatic evolution in cancer , trisomy 8 , biology , fusion gene , cancer research , genetics , chromosome , immunology , genotype , bone marrow , gene , myelofibrosis , single nucleotide polymorphism
We report a case of myeloproliferative neoplasm ( MPN ) with an atypical t(9;22;15)(p24;q11;q21) translocation, leading to a BCR – JAK 2 fusion, associated with a trisomy of chromosome 8 in clonal evolution at karyotype. Patient's evolution was marked by an aggressive clinical course with rapid progression to blast phase within the first year after diagnosis. Examination of matched chronic phase and blast crisis samples by SNP ‐array karyotyping identified secondary acquired cryptic genetic events at the time of lymphoblastic transformation, including biallelic IKZF 1 alteration and EBF 1 and CDKN 2A/B codeletions. This case is the first report describing acquisition of secondary genetic events leading to acute lymphoblastic progression in a rare MPN with BCR – JAK 2 fusion.