Difference between revisions of "Primitive neuroectodermal tumor"

Jump to: navigation, search
(MRI)
Line 67: Line 67:
  
 
=== MRI ===
 
=== MRI ===
*[[Magnetic resonance imaging|MRI]] is the imaging modality of choice for primitive neuroectodermal tumors.
+
*[[Magnetic resonance imaging|MRI]] is the imaging modality of choice for primitive neuroectodermal tumors.<ref name="pmid15165129">{{cite journal |vauthors=Shi H, Kong X, Xu H, Xu L, Liu D |title=MRI features of intracranial primitive neuroectodermal tumors in adults: comparing with histopathological findings |journal=J. Huazhong Univ. Sci. Technol. Med. Sci. |volume=24 |issue=1 |pages=99–102 |date=2004 |pmid=15165129 |doi= |url=}}</ref>
*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 generally high signal solid components on T2-weighted images.
+
*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.
:*MRI with contrast shows acid enhancement, cystic components, necrosis, and [[Calcification]]
+
 
:*Tumor has well-defined borders without peripheral edema
 
:*T1 C+ (Gd): shows markedly heterogeneous enhancement and leptomeningeal seeding is common
 
:*DWI: often shows restricted diffusion and solid composition in addition to enhancement which shows high vascularization of the tumor.
 
:*MR spectroscopy: elevated choline, decreased N-acetyl aspartate (NAA), elevated taurine (Tau) peak (relatively specific for PNET).
 
: In cases of peripheral PNET, the whole body [[radioisotope scan]] can reveal the site of the tumor and possible [[metastases]].
 
 
=== Other Imaging Findings ===
 
=== Other Imaging Findings ===
 
*There are no other imaging findings associated with primitive neuroectodermal tumors.
 
*There are no other imaging findings associated with primitive neuroectodermal tumors.

Revision as of 20:05, 25 October 2019

WikiDoc Resources for Primitive neuroectodermal tumor

Articles

Most recent articles on Primitive neuroectodermal tumor

Most cited articles on Primitive neuroectodermal tumor

Review articles on Primitive neuroectodermal tumor

Articles on Primitive neuroectodermal tumor in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Primitive neuroectodermal tumor

Images of Primitive neuroectodermal tumor

Photos of Primitive neuroectodermal tumor

Podcasts & MP3s on Primitive neuroectodermal tumor

Videos on Primitive neuroectodermal tumor

Evidence Based Medicine

Cochrane Collaboration on Primitive neuroectodermal tumor

Bandolier on Primitive neuroectodermal tumor

TRIP on Primitive neuroectodermal tumor

Clinical Trials

Ongoing Trials on Primitive neuroectodermal tumor at Clinical Trials.gov

Trial results on Primitive neuroectodermal tumor

Clinical Trials on Primitive neuroectodermal tumor at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Primitive neuroectodermal tumor

NICE Guidance on Primitive neuroectodermal tumor

NHS PRODIGY Guidance

FDA on Primitive neuroectodermal tumor

CDC on Primitive neuroectodermal tumor

Books

Books on Primitive neuroectodermal tumor

News

Primitive neuroectodermal tumor in the news

Be alerted to news on Primitive neuroectodermal tumor

News trends on Primitive neuroectodermal tumor

Commentary

Blogs on Primitive neuroectodermal tumor

Definitions

Definitions of Primitive neuroectodermal tumor

Patient Resources / Community

Patient resources on Primitive neuroectodermal tumor

Discussion groups on Primitive neuroectodermal tumor

Patient Handouts on Primitive neuroectodermal tumor

Directions to Hospitals Treating Primitive neuroectodermal tumor

Risk calculators and risk factors for Primitive neuroectodermal tumor

Healthcare Provider Resources

Symptoms of Primitive neuroectodermal tumor

Causes & Risk Factors for Primitive neuroectodermal tumor

Diagnostic studies for Primitive neuroectodermal tumor

Treatment of Primitive neuroectodermal tumor

Continuing Medical Education (CME)

CME Programs on Primitive neuroectodermal tumor

International

Primitive neuroectodermal tumor en Espanol

Primitive neuroectodermal tumor en Francais

Business

Primitive neuroectodermal tumor in the Marketplace

Patents on Primitive neuroectodermal tumor

Experimental / Informatics

List of terms related to Primitive neuroectodermal tumor

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.[18]
  • 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 [19].

Surgery

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

Primary Prevention

Secondary Prevention

References

  1. Yagnik, Vipul D; Dawka, Sushil (2019). "

    Extraskeletal Ewing's sarcoma/peripheral primitive neuroectodermal tumor of the small bowel presenting with gastrointestinal perforation

    ". Clinical and Experimental Gastroenterology. Volume 12: 279–285. doi:10.2147/CEG.S203697. ISSN 1178-7023.
  2. Rorke LB. (1983). "The cerebellar medulloblastoma and its relationship to primitive neuroectodermal tumors". J Neuropathol Exp Neuro.
  3. Batsakis, John G.; MacKay, Bruce; El-Naggar, Adel K. (2016). "Ewing's Sarcoma and Peripheral Primitive Neuroectodermal Tumor: An Interim Report". Annals of Otology, Rhinology & Laryngology. 105 (10): 838–843. doi:10.1177/000348949610501014. ISSN 0003-4894.
  4. Castro, E. C.; Parwani, A. V. (2012). "Ewing Sarcoma/Primitive Neuroectodermal Tumor of the Kidney: Two Unusual Presentations of a Rare Tumor". Case Reports in Medicine. 2012: 1–7. doi:10.1155/2012/190581. ISSN 1687-9627.
  5. Triarico S, Attinà G, Maurizi P, Mastrangelo S, Nanni L, Briganti V, Meacci E, Margaritora S, Balducci M, Ruggiero A (July 2018). "Multimodal treatment of pediatric patients with Askin's tumors: our experience". World J Surg Oncol. 16 (1): 140. doi:10.1186/s12957-018-1434-2. PMC 6044084. PMID 30005673.
  6. Zucman J, Delattre O, Desmaze C, Plougastel B, Joubert I, Melot T; et al. (1992). "Cloning and characterization of the Ewing's sarcoma and peripheral neuroepithelioma t(11;22) translocation breakpoints". Genes Chromosomes Cancer. 5 (4): 271–7. PMID 1283315.
  7. Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M; et al. (1992). "Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours". Nature. 359 (6391): 162–5. doi:10.1038/359162a0. PMID 1522903.
  8. Novo J, Bitterman P, Guirguis A (2015). "Central-type primitive neuroectodermal tumor of the uterus: Case report of remission of stage IV disease using adjuvant cisplatin/etoposide/bevacizumab chemotherapy and review of the literature". Gynecol Oncol Rep. 14: 26–30. doi:10.1016/j.gore.2015.09.002. PMC 4688884. PMID 26793768.
  9. Jürgens HF (1994). "Ewing's sarcoma and peripheral primitive neuroectodermal tumor". Curr Opin Oncol. 6 (4): 391–6. PMID 7803540.
  10. de Alava E, Gerald WL (2000). "Molecular biology of the Ewing's sarcoma/primitive neuroectodermal tumor family". J Clin Oncol. 18 (1): 204–13. doi:10.1200/JCO.2000.18.1.204. PMID 10623711.
  11. Alonso, Marta M.; Yi, Xiaoping; Liu, Wenguang; Zhang, Youming; Xiao, Desheng; Yin, Hongling; Long, Xueying; Li, Li; Zai, Hongyan; Chen, Minfeng; Li, Wenzheng; Sun, Lunquan (2017). "Radiological features of primitive neuroectodermal tumors in intra-abdominal and retroperitoneal regions: A series of 18 cases". PLOS ONE. 12 (3): e0173536. doi:10.1371/journal.pone.0173536. ISSN 1932-6203.
  12. Ambros IM, Ambros PF, Strehl S, Kovar H, Gadner H, Salzer-Kuntschik M (April 1991). "MIC2 is a specific marker for Ewing's sarcoma and peripheral primitive neuroectodermal tumors. Evidence for a common histogenesis of Ewing's sarcoma and peripheral primitive neuroectodermal tumors from MIC2 expression and specific chromosome aberration". Cancer. 67 (7): 1886–93. doi:10.1002/1097-0142(19910401)67:7<1886::aid-cncr2820670712>3.0.co;2-u. PMID 1848471.
  13. Visee, S; Soltner, C; Rialland, X; Machet, M C; Loussouarn, D; Milinkevitch, S; Pasco-Papon, A; Mercier, P; Rousselet, M C (2005). "Supratentorial primitive neuroectodermal tumours of the brain: multidirectional differentiation does not influence prognosis. A clinicopathological report of 18 patients". Histopathology. 46 (4): 403–412. doi:10.1111/j.1365-2559.2005.02101.x. ISSN 0309-0167.
  14. Ohba S, Yoshida K, Hirose Y, Ikeda E, Kawase T. (2008). "A supratentorial primitive neuroectodermal tumor in an adult: a case report and review of the literature". J Neurooncol.
  15. G R Bunin, J D Buckley, C P Boesel, L B Rorke and A T Meadows (1994). "Risk factors for astrocytic glioma and primitive neuroectodermal tumor of the brain in young children: a report from the Children's Cancer Group" (PDF). Cancer Epidemiol Biomarkers Prev.
  16. Smoll NR. (2012). "Relative survival of childhood and adult medulloblastomas and primitive neuroectodermal tumors (PNETs)". Cancer.
  17. Xiao H, Bao F, Tan H, Wang B, Liu W, Gao J, Gao X (2016). "CT and clinical findings of peripheral primitive neuroectodermal tumour in children". Br J Radiol. 89 (1060): 20140450. doi:10.1259/bjr.20140450. PMC 4846188. PMID 26847997.
  18. Shi H, Kong X, Xu H, Xu L, Liu D (2004). "MRI features of intracranial primitive neuroectodermal tumors in adults: comparing with histopathological findings". J. Huazhong Univ. Sci. Technol. Med. Sci. 24 (1): 99–102. PMID 15165129.
  19. Batsakis JG, Mackay B, el-Naggar AK (1996). "Ewing's sarcoma and peripheral primitive neuroectodermal tumor: an interim report". Ann Otol Rhinol Laryngol.

Linked-in.jpg