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.

journal_name

Ann Hematol

journal_title

Annals of hematology

authors

Cheng Z,Luo Y,Zhang Y,Wang Y,Chen Y,Xu Y,Peng H,Zhang G

doi

10.1007/s00277-020-04000-x

subject

Has Abstract

pub_date

2020-07-01 00:00:00

pages

1561-1564

issue

7

eissn

0939-5555

issn

1432-0584

pii

10.1007/s00277-020-04000-x

journal_volume

99

pub_type

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