Molecular identification of a TPR-FGFR1 fusion transcript in an adult with myeloproliferative neoplasm, T-lymphoblastic lymphoma, and a t(1;8)(q25;p11.2)

The 8p11 myeloproliferative syndrome is an aggressive neoplasm associated with chromosomal abnormalities involving rearrangement of the fibroblast growth factor receptor 1 (FGFR1) gene. We report herein a rare case of a t(1;8)(q25;p11.2) with a TPR-FGFR1 rearrangement, in which the patient presented with myeloproliferative neoplasm-like symptoms and T-lymphoblastic lymphoma. Sequence analysis revealed a fusion transcript with exon 22 of the TPR gene joined to exon 13 of the FGFR1 gene, which is a novel breakpoint for the TPR gene in the TPR-FGFR1 rearrangement.