Benefit of Sunitinib in the treatment of pulmonary primitive neuroectodermal tumors: A case report and literature review

Abstract

Primitive neuroectodermal tumor (PNET) is a highly aggressive small round cell tumor but is extremely rare in the lung. Next-generation sequencing (NGS) has led to breakthroughs for genetic analyses and personalized medicine approaches for cancer treatment. We report the case of a 30-year-old woman with an advanced pulmonary PNET treated with multiple chemotherapeutic regimens, and achieved a partial response (PR) as a best response. However, there was a disease progression after these treatment regimens. The NGS revealed the presence of a copy number loss (CNL) of Von Hippel-Lindau (VHL), CDKN2A/B and TP53 genes. The specific VHL CNL has not previously been associated with PNET, but has been reported in other tumors and has been associated with response to Sunitinib. Sunitinib was then instituted for this patient and resulted in PR after the failure of multiple chemotherapeutic regimens. To our knowledge, this is the first report of pulmonary PNET with CNL of VHL gene that benefits from Sunitinib treatment. This case illustrates the potential of clinical NGS to open unexpected avenues for treatment and thereby improve patient outcomes.