Primitive neuroectodermal tumor

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Gertrude Djouka, M.D.[2], Maria Fernanda Villarreal, M.D. [3]

Synonyms and keywords: Primitive neuroectodermal tumors; PNET; CNS PNET; Askin tumor; Peripheral neuroepithelioma; Ependymoblastoma

Overview

Primitive neuroectodermal tumor (also known as "PNET") is a rare type of malignant tumor originating from neuroectoderm. Neuroectoderm is normally involved in the development of the nervous system. Apart from central nervous system (CNS), PNETs can involve other tissues originating from the neuroectoderm such as muscles and bones. PNET was first discovered by James Ewing, an American pathologist, in 1921. However, the term PNETs is more commonly was described in 1973 by Hart and Earle. In fact, PNETs are members of the Ewing tumor family. These tumors have small round cells, are believed to originate from postganglionic parasympathetic primordial cells and have mutations of the EWS gene. Due to their origin, PNETs can be found at any site within the parasympathetic system. Apart from Ewing's Sarcoma (ES) and PNET, this family of tumors includes other tumors such as Askin's tumor (a malignant small-cell tumor in the chest) and paravertebral small-cell tumors. PNETs are divided into peripheral and central based on their presentation site. Central PNETs are more commonly seen among children and young adults and account for approximately 1% of PNETs. Peripheral PNETs mostly occur in bones and surrounding tissues. PNETs are more commonly seen among children and young adults. The median age at diagnosis is 25 years of age. PNETs are highly malignant and their prognosis is generally poor, however, the prognosis is more favorable for adult patients with PNET. The 5-survival rate of patients with PNET is less than 35%. The disease affects both men and women, however, there is a slight tendency toward affecting males in the cases of peripheral PNET.

Historical Perspective

Classification

Pathophysiology

  • The pathogenesis of peripheral primitive neuroectodermal tumor is characterized by the chromosomal translocation t(11;22)(q24q12).[6][7]
  • This translocation fuses the EWS gene on chromosome 22 with the FLI1 gene on chromosome 11.
  • The EWS-FLI1 gene has been associated with the development of PNET involving the synthesis of adrenal pathway.
  • On gross pathology, white, hemorrhagic and necrotic mass are characteristic of PNET.[8]
  • On microscopy histopathological analysis, small round blue cells, fine chromatin, eosinophilic cytoplasm,homer-Wright rosettes, and high mitotic figures.[9][10]
  • On microscopic histopathological analysis, characteristic findings of the primitive neuroectodermal tumor, include small blue cell tumor with abundant mitotic figures, Homer-Wright rosettes, in which tumor cells surround neutrophils, fibrosis, and short and round or spindle-shaped nuclei.
  • Immunohistochemical analysis can also be positive for CD99, CD56, Neuron-specific enolase (NSE), S-100 protein, synaptophysin, and chromogranin A.[11]
H&E staining of PNET. Courtesy of image: Wikipedia

Differentiating Primitive Neuroectodermal Tumor from Other Diseases

Epidemiology and Demographics

  • The annual incidence of PNETs from birth to 20 years of age is 0.29 per 100,000.[13]
  • The prevalence of primitive neuroectodermal tumors remains unknown.
  • PNETs are more common among children.
  • PNETs have a slight tendency toward affecting men compared to women. [14]
  • PNETs usually affect Hispanic and white individuals.

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

  • There are no ECG findings associated with primitive neuroectodermal tumors.

X-ray

  • There are no x-ray findings associated with primitive neuroectodermal tumors.

Echocardiography or Ultrasound

CT

MRI

  • MRI is the imaging modality of choice for primitive neuroectodermal tumors.[21]
  • On MRI, findings of the primitive neuroectodermal tumor may include highly variable and can be hypo-intense to isointense, but usually, hypo-intense on T1-weighted images and high signal solid components on T2-weighted images.

Other Imaging Findings

  • There are no other imaging findings associated with primitive neuroectodermal tumors.

Other Diagnostic Studies

  • There are no other diagnostic studies associated with primitive neuroectodermal tumors.

Treatment

Medical Therapy

  • There is no consensus in the treatment of PNET.
  • Chemotherapy is controversial in the treatment of PNET.
  • Temozolomide can be added to conventional treatment of excision and radiotherapy.
  • 7 to 8 weeks of radiotherapy at a dose of 50-55 Gy is recommended [22].

Surgery

  • Based on the site of the tumor, maximum resection must be performed.

Primary Prevention

Secondary Prevention

References

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