Whole-exome sequencing identifies a somatic missense mutation of NBN in clear cell sarcoma of the salivary gland

  • Authors:
    • Lei Zhang
    • Zhen Jia
    • Fengbiao Mao
    • Yueyi Shi
    • Rong Fa Bu
    • Baorong Zhang
  • View Affiliations

  • Published online on: April 8, 2016     https://doi.org/10.3892/or.2016.4738
  • Pages: 3349-3356
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Abstract

Clear cell sarcoma (CCS) is a rare, low-grade carcinoma commonly located in the distal extremities of young adults involving tendons and aponeuroses. CCS is characterized by its poor prognosis due to late diagnosis, multiple local recurrence, propensity to late metastases, and a high rate of tumor-related mortality. The genetic cause for CCS is thought to be EWSR1 gene translocation. However, CCS lacking a translocation may have other, as yet uncharacterized, genetic mutations that can cause the same pathological effect. A combination of whole‑exome sequencing and Sanger sequencing of cancer tissue and venous blood from a patient diagnosed with CCS of the salivary gland revealed a somatic missense mutation, c.1061C>T (p.P354L), in exon 9 of the Nibrin gene (NBN). This somatic missense mutation led to the conversion of proline to leucine (p.P354L), resulting in deleterious effects for the NBN protein. Multiple-sequence alignments showed that codon 354, where the mutation (c.1061C>T) occurs, is located within a phylogenetically conserved region. In conclusion, we here report a somatic missense mutation c.1061C>T (p.P354L) in the NBN gene in a patient with CCS lacking an EWSR1-ATF1 fusion. Our findings broaden the genotypic spectrum of CCS and provide new molecular insight that should prove useful in the future clinical genetic diagnosis of CCS.
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June-2016
Volume 35 Issue 6

Print ISSN: 1021-335X
Online ISSN:1791-2431

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Spandidos Publications style
Zhang L, Jia Z, Mao F, Shi Y, Bu RF and Zhang B: Whole-exome sequencing identifies a somatic missense mutation of NBN in clear cell sarcoma of the salivary gland. Oncol Rep 35: 3349-3356, 2016
APA
Zhang, L., Jia, Z., Mao, F., Shi, Y., Bu, R.F., & Zhang, B. (2016). Whole-exome sequencing identifies a somatic missense mutation of NBN in clear cell sarcoma of the salivary gland. Oncology Reports, 35, 3349-3356. https://doi.org/10.3892/or.2016.4738
MLA
Zhang, L., Jia, Z., Mao, F., Shi, Y., Bu, R. F., Zhang, B."Whole-exome sequencing identifies a somatic missense mutation of NBN in clear cell sarcoma of the salivary gland". Oncology Reports 35.6 (2016): 3349-3356.
Chicago
Zhang, L., Jia, Z., Mao, F., Shi, Y., Bu, R. F., Zhang, B."Whole-exome sequencing identifies a somatic missense mutation of NBN in clear cell sarcoma of the salivary gland". Oncology Reports 35, no. 6 (2016): 3349-3356. https://doi.org/10.3892/or.2016.4738