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.
Keywords:
Eosinophilia; Myeloid neoplasm; NAP1L4/NUTM1 fusion.
MeSH terms
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Adult
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Chromosomes, Human, Pair 11 / genetics*
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Chromosomes, Human, Pair 15 / genetics*
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Eosinophilia / complications
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Eosinophilia / drug therapy
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Eosinophilia / genetics*
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Humans
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Hypereosinophilic Syndrome / genetics
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Hypereosinophilic Syndrome / pathology
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Hypereosinophilic Syndrome / therapy
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Imatinib Mesylate / therapeutic use
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Leukemia / genetics
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Leukemia / pathology
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Leukemia / therapy
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Male
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Mutation
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Myeloproliferative Disorders / complications
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Myeloproliferative Disorders / drug therapy*
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Myeloproliferative Disorders / genetics*
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Myeloproliferative Disorders / pathology
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Neoplasm Proteins / genetics*
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Nuclear Proteins / genetics*
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Oncogene Proteins, Fusion / genetics
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Oncogene Proteins, Fusion / isolation & purification
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Receptor, Platelet-Derived Growth Factor alpha / genetics
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Remission Induction
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Translocation, Genetic / physiology
Substances
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NAP1L4 protein, human
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NUTM1 protein, human
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Neoplasm Proteins
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Nuclear Proteins
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Oncogene Proteins, Fusion
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Imatinib Mesylate
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Receptor, Platelet-Derived Growth Factor alpha
Supplementary concepts
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Pdgfra-Associated Chronic Eosinophilic Leukemia