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Acute megakaryoblastic leukemia with a four‐way variant translocation originating the RBM15–MKL1 fusion gene
Author(s) -
Torres Lurdes,
Lisboa Susana,
Vieira Joana,
Cerveira Nuno,
Santos Joana,
Pinheiro Manuela,
Correia Cecília,
Bizarro Susana,
Almeida Marta,
Teixeira Manuel R.
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22765
Subject(s) - acute megakaryoblastic leukemia , chromosomal translocation , medicine , myeloid leukemia , fusion gene , fusion transcript , karyotype , leukemia , gene , acute leukemia , chromosome , cancer research , microbiology and biotechnology , genetics , immunology , biology
Acute megakaryoblastic leukemia (AMKL) with t(1;22)(p13;q13) is a subset of acute myeloid leukemia (AML) representing <1% of all cases and about 70% of pediatric AMKL in the first year of life. We present a case of a 7‐month‐old female in whom the bone marrow karyotype showed the derivative chromosome der(22)t(1;22)(p13;q13). The RBM15–MKL1 fusion transcript was detected by RT‐PCR and confirmed by sequencing analyses. FISH analyses revealed the presence of the four‐way translocation t(1;22;17;18)(p13;q13;q22;q12). Pediatr Blood Cancer 2011;56:846–849. © 2011 Wiley‐Liss, Inc.