title: 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 celltumor but is extremely rare in the lung. Next-generation sequencing (NGS) has led to breakthroughs for genetic analyses and personalizedmedicine 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. Sunitinibwas 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 clinicalNGS to open unexpected avenues for treatment and thereby improve patient outcomes.
authors.affiliation: Department of Gastrointestinal Medical Oncology, The Affiliated Tumour Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Chunhui
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Department of Gastrointestinal Medical Oncology, The Affiliated Tumour Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Jingchun
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Gastrointestinal Medical Oncology, The Affiliated Tumour Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Guangyu
authors.initials: G
authors.lastname: Wang
authors.affiliation: Institute of Precision Medicine, 3D Medicines Inc, Shanghai, China.
authors.forename: Jiajia
authors.initials: J
authors.lastname: Xu
authors.affiliation: Institute of Precision Medicine, 3D Medicines Inc, Shanghai, China.
authors.forename: Yanlin
authors.initials: Y
authors.lastname: Li
authors.affiliation: Institute of Precision Medicine, 3D Medicines Inc, Shanghai, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Guo
authors.affiliation: Department of Gastrointestinal Medical Oncology, The Affiliated Tumour Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Tongsen
authors.initials: T
authors.lastname: Zheng
authors.affiliation: Department of Gastrointestinal Medical Oncology, The Affiliated Tumour Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Yanqiao
authors.initials: Y
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use*; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D007211:Indoles / Q000627:therapeutic use*; D008175:Lung Neoplasms / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000235:genetics; D018242:Neuroectodermal Tumors, Primitive / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000235:genetics; D011758:Pyrroles / Q000627:therapeutic use*; D000077210:Sunitinib; D014057:Tomography, X-Ray Computed; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics
chemical_list: D000970:Antineoplastic Agents; D007211:Indoles; D011758:Pyrroles; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human; D000077210:Sunitinib
keywords: next-generation sequencing; pulmonary primitive neuroectodermal tumor; sunitinib; von Hippel-Lindau