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A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1 / FGFR1 fusion gene
Author(s) -
Yamamoto Katsuya,
Kawano Hiroki,
Nishikawa Shinichiro,
Yakushijin Kimikazu,
Okamura Atsuo,
Matsui Toshimitsu
Publication year - 2006
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/j.1600-0609.2006.00723.x
Subject(s) - cd33 , karyotype , exon , fusion gene , myeloid , biology , immunology , cd34 , pathology , microbiology and biotechnology , medicine , genetics , stem cell , gene , chromosome
  We describe here the first case of 8p11 myeloproliferative syndrome (EMS) with t(8;9)(p11;q33), who unusually demonstrated B‐lymphoblastic/monoblastic biphenotypic transformation. A 57‐year‐old woman was admitted because of leukocytosis and diagnosed as EMS. Bone marrow was infiltrated with myeloperoxidase (MPO)‐, CD10+, CD19+, CD20+, CD34+, HLA‐DR+ small lymphoblasts and MPO+, CD2+, CD4+, CD13+, CD14+, CD33+, HLA‐DR+ large monoblasts. The karyotype was 46,XX,t(8;9)(p11;q33)[20] and the CEP1 / FGFR1 fusion transcript between CEP1 exon 38 and FGFR1 exon 9 was detected. This case clearly indicates that the blastic transformation in EMS with t(8;9) could arise in the stem cells, which differentiate into not only myelomonocytic but also B‐lymphocytic lineages.

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