Abstract
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.
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Funding
This work was supported by the National Natural Science Foundation of China (No. 81972520, 81472510), Key R&D (Major Science and Technology Project) Project of Sichuan Science and Technology Department (No. 2020YFS0270), and the 135 Project for Disciplines of Excellence–Clinical Research Incubation Project, West China Hospital, Sichuan University (No. 2018HXFH011).
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Y.Q. analyzed the data and prepared the manuscript. W.J. collected the clinicopathological data of the patient. Y.Z. and H.C. performed the histopathological examinations. M.C. carried out the molecular studies. H.Z. was responsible for the diagnosis and revised the manuscript.
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Qiu, Y., Jing, W., Zhou, Y. et al. 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. Virchows Arch 480, 1255–1260 (2022). https://doi.org/10.1007/s00428-021-03179-2
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DOI: https://doi.org/10.1007/s00428-021-03179-2