ArticleCancer2017
Clinical genomic profiling identifies TYK2 mutation and overexpression in patients with neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.
Article in Cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 29 citations in OpenAlex.
- Trial
- Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors.Journal of cancer research and clinical oncology · 2025Article
- Establishment and characterization of a recurrent malignant peripheral nerve sheath tumor cell line: RsNF.Human cell · 2024Article
- MEK Inhibition Synergizes with TYK2 Inhibitors in NF1-Associated Malignant Peripheral Nerve Sheath Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Article
- Direct and indirect effects of IFN-α2b in malignancy treatment: not only an archer but also an arrow.Biomarker research · 2022Review
- Malignant melanotic nerve sheath tumor with PRKAR1A, KMT2C, and GNAQ mutations.Free neuropathology · 2022Article
- JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition.The Journal of allergy and clinical immunology · 2021Review
- Review
- Toward Understanding the Mechanisms of Malignant Peripheral Nerve Sheath Tumor Development.International journal of molecular sciences · 2021Review
- Establishment and genomic characterization of a sporadic malignant peripheral nerve sheath tumor cell line.Scientific reports · 2021Article
- Translating current basic research into future therapies for neurofibromatosis type 1.British journal of cancer · 2020Review
- Diagnosis and management of malignant peripheral nerve sheath tumors: Current practice and future perspectives.Neuro-oncology advances · 2020Review
- Genetics of human malignant peripheral nerve sheath tumors.Neuro-oncology advances · 2020Review
- From Genes to -Omics: The Evolving Molecular Landscape of Malignant Peripheral Nerve Sheath Tumor.Genes · 2020Review
- A clinically and genomically annotated nerve sheath tumor biospecimen repository.Scientific data · 2020Article
- TYK2: An Upstream Kinase of STATs in Cancer.Cancers · 2019Review
- TYK2 promotes malignant peripheral nerve sheath tumor progression through inhibition of cell death.Cancer medicine · 2019Article
- Telomere alterations in neurofibromatosis type 1-associated solid tumors.Acta neuropathologica communications · 2019Article
- Article
- Aberrant ATRX protein expression is associated with poor overall survival in NF1-MPNST.Oncotarget · 2018Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundMalignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise at an estimated frequency of 8% to 13% in individuals with neurofibromatosis type 1 (NF1). Compared with their sporadic counterparts, NF1-associated MPNSTs (NF1-MPNSTs) develop in young adults, frequently recur (approximately 50% of cases), and carry a dismal prognosis. As such, most individuals affected with NF1-MPNSTs die within 5 years of diagnosis, despite surgical resection combined with radiotherapy and chemotherapy.
methodsClinical genomic profiling was performed using 1000 ng of DNA from 7 cases of NF1-MPNST, and bioinformatic analyses were conducted to identify genes with actionable mutations.
resultsA total of 3 women and 4 men with NF1-MPNST were identified (median age, 38 years). Nonsynonymous mutations were discovered in 4 genes (neurofibromatosis type 1 [NF1], ROS proto-oncogene 1 [ROS1], tumor protein p53 [TP53], and tyrosine kinase 2 [TYK2]), which in addition were mutated in other MPNST cases in this sample set. Consistent with their occurrence in individuals with NF1, all tumors had at least 1 mutation in the NF1 gene. Whereas TP53 gene mutations are frequently observed in other cancers, ROS1 mutations are common in melanoma (15%-35%), another neural crest-derived malignancy. In contrast, TYK2 mutations are uncommon in other malignancies (<7%). In the current series, recurrent TYK2 mutations were identified in 2 cases of NF1-MPNST (30% of cases), whereas TYK2 protein overexpression was observed in 60% of MPNST cases using an independently generated tissue microarray, regardless of NF1 status.
conclusionsClinical genomic analysis of the current series of NF1-MPNST cases found that TYK2 is a new gene mutated in MPNST. Future work will focus on examining the utility of TYK2 expression as a biomarker and therapeutic target for these cancers. Cancer 2017;123:1194-1201. © 2016 American Cancer Society.
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