NSD3::NUTM1 Fusion Sarcoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Prolonged Survival
Abstract
1. Introduction
2. Case Presentation
2.1. Clinical History
2.2. Morphologic and Immunohistochemical Overview of Tumor Recurrences
2.3. Advanced Immunohistochemical Analysis
2.4. Genetic Testing
2.4.1. Karyotype (Performed on Recurrence #6)
2.4.2. Fluorescence In Situ Hybridization (FISH) (Performed on Recurrences #2, #5, and #6)
2.4.3. Germline Assessment (Performed on Recurrence #5)
2.4.4. Next-Generation Sequencing (NGS)
2.4.5. Methylation Profiling Testing
3. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Tumors | H&E Morphology | Mitosis (Count/mm2) | Necrosis | Immunohistochemistry | Genetic Tests | Treatment |
---|---|---|---|---|---|---|
Initial tumor at 13 months | Not recorded | Not recorded | None | Not recorded | Not performed | Resection |
Recurrence #1 at age 6 | Not recorded | Not recorded | None | Positive for neurofilament, collagen IV, Leu 7, and vimentin; negative for S-100, EMA CD99, desmin, and keratin | Not performed | Resection and EBRT |
Recurrence #2 at age 12 | Mix of plump spindled and epithelioid tumor cells in sheets | 5 | None | Negative for NUT; H3K27me3 weakly patchy positive | Not performed | Resection and EBRT; enrolled in COG D9903 |
Recurrence #3 at age 20 | Mix of plump epithelioid and spindled cells in sheets | 4 | None | Not performed | Not performed | Resection and XRT 6100 cGy |
Recurrence #4 at age 22 | Large cells with vesicular nuclei | 15 | None | Not performed | Not performed | Resection |
Recurrence #5 at age 23 | Small round cells with patchy rhabdoid cells | 12 | None | Negative for S-100, SOX10, HMB45, and Melan-A | Negative for NF1 alterations by Invitae; Whole Genome NGS by CARIS Life Sciences | Resection and expectant management |
Recurrence #6 at age 26 | Mix of small round blue cells and rhabdoid cells in a myxoid background | 13 | <50% geographic necrosis | Positive for vimentin; patchy positive for NUT, S-100, and SOX10; INI1 retained; focal positive for neurofilament; patchy positive for H3K27me3 | Whole Genome NGS by ORIEN AVATAR | Incomplete resection |
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Di, J.; Alhaidary, A.M.; Wang, C.; Liu, J.; Wei, S.; Valentino, J.; Bocklage, T.J. NSD3::NUTM1 Fusion Sarcoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Prolonged Survival. Biomedicines 2024, 12, 1709. https://doi.org/10.3390/biomedicines12081709
Di J, Alhaidary AM, Wang C, Liu J, Wei S, Valentino J, Bocklage TJ. NSD3::NUTM1 Fusion Sarcoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Prolonged Survival. Biomedicines. 2024; 12(8):1709. https://doi.org/10.3390/biomedicines12081709
Chicago/Turabian StyleDi, Jing, Ali M. Alhaidary, Chi Wang, Jinge Liu, Sainan Wei, Joseph Valentino, and Therese J. Bocklage. 2024. "NSD3::NUTM1 Fusion Sarcoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Prolonged Survival" Biomedicines 12, no. 8: 1709. https://doi.org/10.3390/biomedicines12081709
APA StyleDi, J., Alhaidary, A. M., Wang, C., Liu, J., Wei, S., Valentino, J., & Bocklage, T. J. (2024). NSD3::NUTM1 Fusion Sarcoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Prolonged Survival. Biomedicines, 12(8), 1709. https://doi.org/10.3390/biomedicines12081709