A novel NAP1L4/NUTM1 fusion arising from translocation t(11;15)(p15;q12) in a myeloid neoplasm with eosinophilia and rearrangement of PDGFRA highlights an unusual clinical feature and therapeutic reaction.

ABSTRACT

NUT midline carcinoma (NMC) is an aggressive neoplasm and mainly involved in the head and neck area. The defining genetic hallmark on these tumors is that testis-specific nuclear gene (NUTM1) fuses to bromodomain protein family member 4 gene (BRD4), resulting in the formation of BRD4-NUTM1 transcript. Here, we report a case with myeloid neoplasm complicating with eosinophilia (MLN-Eo) and rearrangement of PDGFRA, which co-exists with a new nucleosome assemble protein 1-like 4 gene (NAP1L4) NAP1L4-NUTM1 fusion. The patient have unusually clinical features and therapeutic reaction to imatinib mesylate. The cloned NAP1L4-NUTM1 gene structure is also determined.