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Acute multilineage ( B /myeloid) leukemia with RUNX 1 duplication/amplification and hypereosinophilia
Author(s) -
Holmes Allen,
Coviello Jean,
Velagaleti Gopalrao
Publication year - 2014
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.12333
Subject(s) - myeloid leukemia , runx1 , myeloid , npm1 , leukemia , cebpa , fluorescence in situ hybridization , hypereosinophilia , cancer research , acute myeloblastic leukemia , biology , karyotype , bone marrow , medicine , pathology , immunology , genetics , mutation , gene , stem cell , haematopoiesis , eosinophilia , chromosome
A 14–year‐old girl presented with myalgias and decreased energy and was found to have a white count of 73 000 with 75% eosinophils. Flow cytometry and immunostains showed the blasts in the bone marrow expressed both myeloid and lymphoid markers. Patient was diagnosed with acute multilineage ( B /Myeloid) leukemia. Genetic testing revealed four copies of the RUNX 1 gene region in 25.5%, with a normal karyotype and no evidence of t (8;21) or t (12;21) by fluorescence in situ hybridization. RUNX 1 translocations and amplifications have been implicated in acute myeloblastic leukemia, acute lymphoblastic leukemia, and MDS , but have not yet been seen with acute multilineage leukemia. Additionally, it is unclear what the risk stratification of this unique presentation will turn out to be.