Unusual split green-orange signals in USP6 fluorescence in situ hybridization in a malignant peripheral nerve sheath tumor with a novel NF1-SCIMP fusion: a potential diagnostic pitfall.
Malignant peripheral nerve sheath tumor
NF1-SCIMP fusion
USP6 rearrangement
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
received:
03
02
2021
accepted:
05
08
2021
revised:
28
06
2021
pubmed:
20
8
2021
medline:
14
6
2022
entrez:
19
8
2021
Statut:
ppublish
Résumé
Deletion of the neurofibromatosis 1 (NF1) gene is common, but NF1 rearrangement or fusion has rarely been reported in peripheral nerve sheath tumors. Here, we present a case of malignant peripheral nerve sheath tumor (MPNST) in a 36-year-old Chinese female. Histologically, the lesion was composed of spindle cells with moderate atypia, immature bone, and atypical cartilage elements. Fluorescence in situ hybridization (FISH) for USP6 revealed green-orange split signals, strongly suggesting the presence of USP6 rearrangement. Subsequent next-generation sequencing-based technology analyses revealed t(17,17) (p13.2, q11.2) intrachromosomal translocation resulting in a novel NF1-SCIMP fusion gene along with NF1 deletion. However, USP6 fusion was not identified. To the best of our knowledge, this is the first case with a confirmed NF1 gene fusion partner in a peripheral nerve sheath tumor. Notably, rearrangement of the SCIMP may cause a pitfall in the interpretation of USP6 FISH results.
Identifiants
pubmed: 34409490
doi: 10.1007/s00428-021-03179-2
pii: 10.1007/s00428-021-03179-2
doi:
Substances chimiques
USP6 protein, human
EC 3.4.19.12
Ubiquitin Thiolesterase
EC 3.4.19.12
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1255-1260Subventions
Organisme : National Natural Science Foundation of China
ID : No. 81972520, 81472510
Organisme : Key R&D (Major Science and Technology Project) Project of Sichuan Science and Technology Department
ID : No. 2020YFS0270
Organisme : 135 Project for Disciplines of Excellence-Clinical Research Incubation Project, West China Hospital, Sichuan University
ID : No. 2018HXFH011
Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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