Abstract
Hematological malignancies with FGFR1 abnormality (8p11 myeloproliferative syndrome; EMS) are rare atypical stem cell disorders characterized by eosinophilia, T-cell proliferation and progression to acute myeloid leukemia.1, 2 In EMS, fibroblast growth factor receptor 1 (FGFR1) gene at 8p11 is disrupted by chromosomal translocation, resulting in the formation of chimeric products with various partner genes. To date, 13 FGFR1 partners have been identified: ZMYM2 (ZNF198) at 13q12; CNTR at 9q33; FGFR1OP at 6q27; BCR at 22q11; HERVK at 19p13.3; FGFR1OP2 at 12p11; TRIM24 (TIF1) at 7q34; CPSF6 at 12q15; MYO18A at 17q23; LRRFIP1 at 2q37; CUX1 at 7q34; TPR at 1q25; and RANBP2/NUP358 at 2q12.2, 3, 4, 5 In all reported cases in which chimeric transcripts were cloned, N-terminal portion of the predicted fusion protein is composed of a partner gene with a dimerization domain, which may induce the constitutive activation of FGFR1 tyrosine kinase in the C-terminal portion, leading to the cellular transformation.2
Highlights
Hematological malignancies with fibroblast growth factor receptor 1 (FGFR1) abnormality (8p11 myeloproliferative syndrome; EMS) are rare atypical stem cell disorders characterized by eosinophilia, T-cell proliferation and progression to acute myeloid leukemia.[1,2]
13 FGFR1 partners have been identified: ZMYM2 (ZNF198) at 13q12; CNTR at 9q33; FGFR1OP at 6q27; BCR at 22q11; HERVK at 19p13.3; FGFR1OP2 at 12p11; TRIM24 (TIF1) at 7q34; CPSF6 at 12q15; MYO18A at 17q23; LRRFIP1 at 2q37; CUX1 at 7q34; TPR at 1q25; and RANBP2/NUP358 at 2q12.2–5 In all reported cases in which chimeric transcripts were cloned, N-terminal portion of the predicted fusion protein is composed of a partner gene with a dimerization domain, which may induce the constitutive activation of FGFR1 tyrosine kinase in the C-terminal portion, leading to the cellular transformation.[2]
We report the identification of sequestosome 1 (SQSTM1) gene at 5q35 as a novel fusion partner of the FGFR1 in a patient with acute myelomonocytic leukemia presenting 8p11 chromosomal abnormality
Summary
Hematological malignancies with FGFR1 abnormality (8p11 myeloproliferative syndrome; EMS) are rare atypical stem cell disorders characterized by eosinophilia, T-cell proliferation and progression to acute myeloid leukemia.[1,2] In EMS, fibroblast growth factor receptor 1 (FGFR1) gene at 8p11 is disrupted by chromosomal translocation, resulting in the formation of chimeric products with various partner genes. We report the identification of sequestosome 1 (SQSTM1) gene at 5q35 as a novel fusion partner of the FGFR1 in a patient with acute myelomonocytic leukemia presenting 8p11 chromosomal abnormality.
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