Novel LUC7L-NUTM1 https://submit.ncbi.nlm.nih.gov/subs/sra/SUB13924167/bp_info#helper_relevance-public_descriptiongene fusion from translocation t(15;16)(q14;p13) in MPN-Eo with rearrangement of PDGFRA: A case report

Myeloproliferative neoplasms with eosinophilia (MPN-Eo) are a group of haematologic tumors, in which the clonal proliferation of precursor eosinophils leads to persistent eosinophilic hyperplasia, and varying degrees of involvement of the liver, spleen and lymph nodes. The main genetic hallmark of MPN-Eo is the rearrangement of PDGFRA, PDGFRB, FGFR1 and PCM1-JAK2. The present article describes a case of MPN-Eo with the rearrangement of PDGFRA, which co-exists with a putative RNA-binding protein (LUC7L) LUC7L-NUTM1 fusion. NUTM1 is a protein-coding gene that is common in Nuclear protein of the testis midline carcinoma (NMC) and haematological tumors. The LUC7L gene is a heterochromatin gene expressed in mammals; however, the specific function remains unclear, leading to challenges in clinical practice. In the present study, bioinformatics analyses revealed that the fusion gene was highly conserved with LUC7L, LUC7L2 and LUC7L3. Collectively, these results highlighted that LUC7L-NUTM1 may be involved in the development of myeloid tumors, particularly MPN. Results of the present study suggested that there may be an association between LUC7L-NUTM1 and FIP1L1-PDGFRA; however, further investigations are required to determine the underlying mechanisms.