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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.

SUBMITTER: Zhang C

PROVIDER: S-EPMC5350009 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Retroperitoneal extraosseous peripheral primitive neuroectodermal tumor in a Formosan serow: case report and literature review.

Project description:A 10-y-old female captive Formosan serow (Capricornis swinhoei) was inactive and was azotemic. An autopsy was performed following her death, and multiple irregularly shaped, white-to-gray masses of 0.5-2 cm diameter were noted on both ureters, the left adrenal gland, urinary bladder, and uterus. Microscopically, organs were effaced by a poorly demarcated, highly infiltrative neoplasm, composed of neoplastic round cells arranged in islands, sheets, or nests with occasional rosette formation. The neoplastic cells were small: ≤2 red blood cell (≤ 15 μm) diameter. The neoplastic cells were positive for CD56, CK, FLI-1, and NSE, but negative for desmin, GFAP, melan A, NF, PAX-8, S100, synaptophysin, and vimentin. Therefore, the diagnosis of retroperitoneal extraosseous peripheral primitive neuroectodermal tumor (pPNET) was made. pPNET with FLI-1 expression has not been reported previously in animals, to our knowledge.

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Gene expression analysis of primitive neuroectodermal tumors

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Outcome of multidisciplinary treatment of peripheral primitive neuroectodermal tumor.

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Primary spinal primitive neuroectodermal tumor: A single center series with literature review.

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Gene expression analysis of primitive neuroectodermal tumors

2013-05-01 | GSE19404 | GEO

Frequent amplification of a chr19q13.41 microRNA polycistron in aggressive primitive neuroectodermal brain tumors.

Project description:We discovered a high-level amplicon involving the chr19q13.41 microRNA (miRNA) cluster (C19MC) in 11/45 ( approximately 25%) primary CNS-PNET, which results in striking overexpression of miR-517c and 520g. Constitutive expression of miR-517c or 520g promotes in vitro and in vivo oncogenicity, modulates cell survival, and robustly enhances growth of untransformed human neural stem cells (hNSCs) in part by upregulating WNT pathway signaling and restricting differentiation of hNSCs. Remarkably, the C19MC amplicon, which is very rare in other brain tumors (1/263), identifies an aggressive subgroup of CNS-PNET with distinct gene-expression profiles, characteristic histology, and dismal survival. Our data implicate miR-517c and 520g as oncogenes and promising biological markers for CNS-PNET and provide important insights into oncogenic properties of the C19MC locus.

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