Neuroectodermal Tumor

A neuroectodermal tumor is a rare, highly malignant sarcoma that may arise centrally or peripherally. It is associated with a poor prognosis and can affect the central nervous system and organs such as the kidneys, lungs, cervix, and others.

Presentation

A primitive neuroectodermal tumor (PNET) is an undifferentiated sarcoma that arises from neural crest cells [1]. These tumors develop in the central nervous system (CNS) or peripherally in soft tissues and bones. Specifically, a peripheral PNET involves organs such as the kidneys [2], bladder [3], female genital tract [4], myocardium, pancreas, retroperitoneum, chest wall, or lungs [5]. These undifferentiated tumors predominantly affect children and adolescents while exhibiting a slight predilection for males [6]. The prognosis of this neoplasm is poor as it is associated with a 5-year survival rate less than 25% [7].

The patient's manifestations will reflect the affected organ or system. For example, a tumor in the kidney or surrounding tissue may cause symptoms such as gross hematuria and flank pain while an adrenal gland malignancy can produce abdominal and flank pain [8]. Additionally, a tumor in the presacral space may result in foot pain and constipation [8]. Additionally, patients with a pulmonary PNET experience fever, cough, hemoptysis, dyspnea, and chest pain as well as symptoms based on involved neighboring structures [9]. Women with a cervical tumor will exhibit vaginal bleeding, vaginal discharge, lower abdominal pain and urinary features. These patients also have cervical lesions and an enlarged uterus [10].

As for individuals with CNS neuroectoderm tumors, the features will also be site-specific and may include headaches, emesis, visual changes, epistaxis, cranial neuropathies, lethargy, and other changes in mental status. The physical exam findings may include gait ataxia, papilledema, various palsies, and cerebellar features.

Skin
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  • Eyes
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  • psychiatrical
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  • cardiovascular
    Chest Pain
    • Our case was a 16-year-old patient with symptoms consisting of chest pain and shortness of breath.[journals.lww.com]
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  • musculoskeletal
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  • gastrointestinal
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  • respiratoric
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  • Entire body system
    Fever
    • A 17-year-old Japanese woman presented with left upper abdominal pain and high fever.[ncbi.nlm.nih.gov]
    • Systemic symptoms such as weight loss (14.5%) and fever (9.7%) may occur and must be differentiated from infectious etiologies [5].[austinpublishinggroup.com]
    • The patient complained neither of micturition symptoms nor of fever or feebleness.[casesjournal.biomedcentral.com]
    • Systemic manifestations such as fever, anemia, and leukocytosis have been described.[ 7 ] Diagnostic imaging studies should include magnetic resonance imaging (MRI) and computerized tomography (CT).[surgicalneurologyint.com]
    • There was no history of recent fever, cough, or vaccination.[ijri.org]
    Anemia
    • After 1 month, secondary anemia developed.[wjso.biomedcentral.com]
    • Her physical examination upon arrival was unremarkable and laboratory evaluation showed mild anemia, elevation of sedimentation rate and hypercalcemia.[scielo.br]
    • Systemic manifestations such as fever, anemia, and leukocytosis have been described.[ 7 ] Diagnostic imaging studies should include magnetic resonance imaging (MRI) and computerized tomography (CT).[surgicalneurologyint.com]
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  • Jaw & Teeth
    Dental Abscess
    • The physician prescribed a course of antibiotics based on a preliminary diagnosis of dental abscess.[jcda.ca]
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  • Workup

    Patients suspected to have a PNET warrant a full evaluation with history, a physical exam, and the appropriate studies.

    Tissue analysis

    A biopsy should be obtained whether through a needle or surgical excision. Subsequently, the specimen should be analyzed through diagnostic studies such as light microscopy, immunohistochemistry, and cytogenetic testing. Specifically, light microscopy reveals the characteristic appearance of small round cell tumors [11]. A PNET will stain positively for markers such as CD99, CD 56, NSE, and vimentin [11]. Furthermore, genetic analysis reveals a balanced translocation t(11;22)(q24;q12), which is a hallmark feature of this tumor [12].

    Imaging

    Computed tomography (CT) and magnetic resonance imaging (MRI) are among the techniques used to identify the location, extent, and degree of tumor involvement. Note that advanced disease is common at the time of presentation and hence the patient should be evaluated for potential metastasis. The clinician should perform a bone marrow biopsy, a chest CT scan, a chest radiograph, and possibly a positron emission tomography (PET) scan and technetium 99m bone study.

    In CNS cases, the preferred imaging modality is the brain MRI although a brain CT scan takes precedence in emergencies. Note that a lumbar puncture is not performed if there is a mass lesion.

    Other

    To differentiate between a PNET and a neuroblastoma, urinary catecholamines and their metabolites should be obtained. These tests are negative in patients with PNET.

    Pathology

    Other Pathologies
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  • Treatment

    Prognosis

    Complications

    Fever
    • A 17-year-old Japanese woman presented with left upper abdominal pain and high fever.[ncbi.nlm.nih.gov]
    • Systemic symptoms such as weight loss (14.5%) and fever (9.7%) may occur and must be differentiated from infectious etiologies [5].[austinpublishinggroup.com]
    • The patient complained neither of micturition symptoms nor of fever or feebleness.[casesjournal.biomedcentral.com]
    • Systemic manifestations such as fever, anemia, and leukocytosis have been described.[ 7 ] Diagnostic imaging studies should include magnetic resonance imaging (MRI) and computerized tomography (CT).[surgicalneurologyint.com]
    • There was no history of recent fever, cough, or vaccination.[ijri.org]
    Meningitis
    • […] arising from the mucosa of the gastrointestinal tract; usually associated with excessive secretion of serotonin granuloma - a tumor composed of granulation tissue resulting from injury or inflammation or infection meningioma - a tumor arising in the meninges[thefreedictionary.com]
    • We herein describe two cases of primary meningeal PNET-ES.[nature.com]
    • A tumor may come back many years later, usually in the brain, meninges ( membranes covering the brain), or spinal cord .[stanfordchildrens.org]
    • […] often in adolescents or young adults, usually before the age of 35 years with slight male preponderance. 1 PNETs can occur in numerous solid organs including the kidneys, breasts, gastrointestinal tract, prostate, endometrium, jaw, adrenal glands, and meninges[journals.lww.com]
    Anemia
    • After 1 month, secondary anemia developed.[wjso.biomedcentral.com]
    • Her physical examination upon arrival was unremarkable and laboratory evaluation showed mild anemia, elevation of sedimentation rate and hypercalcemia.[scielo.br]
    • Systemic manifestations such as fever, anemia, and leukocytosis have been described.[ 7 ] Diagnostic imaging studies should include magnetic resonance imaging (MRI) and computerized tomography (CT).[surgicalneurologyint.com]
    Leptomeningeal Metastasis

    Etiology

    Epidemiology

    Sex distribution
    Age distribution

    Pathophysiology

    Prevention

    Summary

    Patient Information

    Other symptoms

    Intermittent
    • Case Presentation A 46 year old woman with a history of hypertension, hyperlipidemia and nephrolithiasis presented to the emergency room with a 2–3 week history of intermittent bilateral lower quadrant abdominal pain and nausea.[austinpublishinggroup.com]
    • The patient had been complaining of headaches, blurry vision, diplopia, and intermittent vomiting for a month.[jmedicalcasereports.com]
    Adenocarcinoma of Lung
    • Dysregulation of MYC has been implicated in the pathogenesis of a variety of human neoplasms, including Burkitt’s lymphoma (reviewed in Ref. 56 ), breast carcinoma (57) , colon adenocarcinoma (58) , lung carcinoma (59) , and prostate carcinoma (60) .[clincancerres.aacrjournals.org]
    Subependymoma
    • Other uncommon lesions include other ependymoma subtypes, subependymoma, astrocytoma, ganglioglioma, and hemangioblastoma.[ijri.org]
    Myxopapillary Ependymoma
    • Myxopapillary ependymoma is the commonest tumor at this location.[ijri.org]

    Self-assessment

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    References

    1. Jo VY, Fletcher CD. WHO classification of soft tissue tumours: An update based on the 2013 (4th) edition. Pathology. 2014;46(2):95–104.
    2. Kakkar S, Gupta D, Kaur G, Rana V. Primary primitive neuroectodermal tumor of kidney: A rare case report with diagnostic challenge. Indian J Pathol Microbiol. 2014;57(2):298–300.
    3. Banerjee SS, Eyden BP, McVey RJ, et al. Primary peripheral primitive neuroectodermal tumor of the urinary bladder. Histopathology. 1997;30(5):486–490.
    4. Khosla D, Rai B, Patel FD, et al. Primitive neuroectodermal tumor of the uterine cervix diagnosed during pregnancy: A rare case with review of literature. J Obstet Gynaecol Res. 2014;40(3):878–882.
    5. Andrei M, Cramer SF, Kramer ZB, et al. Adult primary pulmonary primitive neuroectodermal tumor: Molecular features and translational opportunities. Cancer Biol Ther. 2013;14(2):75–80.
    6. de Alava E, Gerald WL. Molecular biology of the Ewing's sarcoma/primitive neuroectodermal tumor family. J Clin Oncol. 2000;18(1):204–213.
    7. Subbiah V, Anderson P, Lazar AJ, Burdett E, Raymond K, Ludwig JA. Ewing's sarcoma: Standard and experimental treatment options. Curr Treat Options Oncol. 2009;10(1-2):126–140.
    8. Kim MS, Kim B, Park CS, et al. Radiologic findings of peripheral primitive neuroectodermal tumor arising in the retroperitoneum. AJR Am J Roentgenol. 2006;186(4):1125-32.
    9. Dong M, Liu J, Song Z, et al. Primary Multiple Pulmonary Primitive Neuroectodermal Tumor: Case Report and Literature Review. Medicine (Baltimore). 2015;94(27):e1136.
    10. Mashriqi N, Gujjarlapudi JK, Sidhu J, Zur M, Yalamanchili M. Ewing's sarcoma of the cervix, a diagnostic dilemma: a case report and review of the literature. J Med Case Rep. 2015;9:255.
    11. Jimenez RE, Folpe AL, Lapham RL, et al. Primary Ewing's sarcoma/primitive neuroectodermal tumor of the kidney: A clinicopathologic and immunohistochemical analysis of 11 cases. Am J Surg Pathol. 2002;26(3):320–327.
    12. Lee YY, Kim do H, Lee JH, et al. Primary pulmonary Ewing's sarcoma/primitive neuroectodermal tumor in a 67-year-old man. J Korean Med Sci. 2007;22(Suppl):S159–S163.



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