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

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 trans...

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Veröffentlicht in:Annals of hematology 2020-07, Vol.99 (7), p.1561-1564
Hauptverfasser: Cheng, Zhao, Luo, Yunya, Zhang, Yang, Wang, Yewei, Chen, Yi, Xu, Yunxiao, Peng, Honling, Zhang, Guangsen
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container_end_page 1564
container_issue 7
container_start_page 1561
container_title Annals of hematology
container_volume 99
creator Cheng, Zhao
Luo, Yunya
Zhang, Yang
Wang, Yewei
Chen, Yi
Xu, Yunxiao
Peng, Honling
Zhang, Guangsen
description 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.
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subjects Blood diseases
Hematology
Life Sciences & Biomedicine
Medicine
Medicine & Public Health
Oncology
Original Article
Science & Technology
Tumors
title 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
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