Primary EWS/PNET of the lung with TP53 germline and SKT11 somatic mutation: A case report and review of the literature

Thorac Cancer. 2022 Jan;13(1):137-140. doi: 10.1111/1759-7714.14251. Epub 2021 Dec 5.

Abstract

Primary pulmonary EWS/PNET is extremely rare. This report describes a 20 year-old man with primary pulmonary EWS/PNET with TP53 germline and SKT11 somatic mutation. After four neoadjuvant chemotherapy cycles (VAC with alternating IE) combined with anlotinib, a left pneumonectomy was performed. Maintenance anlotinib monotherapy was then continued with no sign of recurrence to date. It is suggested that before the treatment and prognosis of children or young adults with primary EWS/PNET of the lung that consideration should be given to genetic testing.

Keywords: Ewing's sarcoma; TP53; pulmonary.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Combined Modality Therapy
  • Exome Sequencing
  • Germ-Line Mutation
  • Humans
  • Lymphatic Metastasis / genetics
  • Lymphatic Metastasis / therapy
  • Male
  • Neuroectodermal Tumors, Primitive / genetics*
  • Neuroectodermal Tumors, Primitive / therapy*
  • Pneumonectomy / methods*
  • Proteins / genetics*
  • RNA-Binding Protein EWS / genetics
  • Sarcoma, Ewing / genetics*
  • Sarcoma, Ewing / therapy*
  • Tumor Suppressor Protein p53 / genetics*
  • Young Adult

Substances

  • KIAA1217 protein, human
  • Proteins
  • RNA-Binding Protein EWS
  • TP53 protein, human
  • Tumor Suppressor Protein p53