Edit concept Question Editor Create issue ticket

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.

Splenomegaly
  • It was further revealed that the patient had splenomegaly and a small intestinal lump, and she was then referred to our hospital.[ncbi.nlm.nih.gov]
Fever
  • The patient was admitted with abdominal pain and fever and underwent emergency exploratory surgery with total abdominal hysterectomy, bilateral salpingo-oophorectomy, and pelvic lymph node dissection.[ncbi.nlm.nih.gov]
  • A 17-year-old Japanese woman presented with left upper abdominal pain and high fever. Computed tomography and magnetic resonance imaging revealed a 15 10 cm tumor replacing the adrenal gland. Preoperative diagnosis was an adrenocortical carcinoma.[ncbi.nlm.nih.gov]
  • Additionally, patients with a pulmonary PNET experience fever, cough, hemoptysis, dyspnea, and chest pain as well as symptoms based on involved neighboring structures.[symptoma.com]
  • Systemic symptoms such as weight loss (14.5%) and fever (9.7%) may occur and must be differentiated from infectious etiologies [5].[austinpublishinggroup.com]
  • […] paraspinal tissues, pelvis, chest wall and extremities Most common bone locations are pelvis, distal femur, proximal tibia, femoral diaphysis and proximal humerus 50% are found in the diaphysis of long bones Clinical features May present with pain, fever[pathologyoutlines.com]
Fatigue
  • A 40-year-old male was admitted with complaints of nonproductive cough, exertional dyspnea, and fatigue since 4 months with a history of abdominal wall swelling which was excised and proven to be Ewing's sarcoma/primitive neuroectodermal tumor (PNET).[ncbi.nlm.nih.gov]
  • A 24-year-old woman who had melena, dizziness, and fatigue and looked pale for 2 months was confirmed to have a microcytic hypochromic anemia in the local hospital.[ncbi.nlm.nih.gov]
  • Some common symptoms occur due to increased pressure within the brain, including: headache (generally upon awakening in the morning) vomiting fatigue /lethargy seizures Pineoblastomas (PNET in the pineal region, a tiny organ near the center of the brain[childrenshospital.org]
  • Common symptoms include headache, nausea and vomiting, fatigue, lethargy, seizures, behavior or personality changes, unexplained weight loss or gain, difficulty looking upward and weakness on one side of the body.[danafarberbostonchildrens.org]
  • The signs and symptoms may include the following: Abdominal pain, back pain Loss of appetite Weight loss Indigestion Yellowing of skin (jaundice) Nausea and vomiting Dark-colored urine Fatigue (getting tired easily) General features of PNET of Pancreas[dovemed.com]
Soft Tissue Swelling
  • A computed tomographic scan and magnetic resonance imaging revealed a soft tissue swelling over the right maxilla, extending into the orbit but without invasion of the globe. Surgical biopsy confirmed a melanotic neuroectodermal tumor of infancy.[ncbi.nlm.nih.gov]
Enuresis
  • A 10-year-old boy presented with mood lability, hallucinations, generalized pain, enuresis, and headaches. Initial investigation failed to produce a diagnosis. The symptoms progressed to seizure, back pain, and papilledema.[ncbi.nlm.nih.gov]
Thyroid Nodule
  • Positron emission tomography-computed tomography revealed several hypermetabolic thyroid nodules with no evidence of intravenous hyperactive lesion. The patient underwent tumor resection under cardiopulmonary bypass.[ncbi.nlm.nih.gov]
Exertional Dyspnea
  • A 40-year-old male was admitted with complaints of nonproductive cough, exertional dyspnea, and fatigue since 4 months with a history of abdominal wall swelling which was excised and proven to be Ewing's sarcoma/primitive neuroectodermal tumor (PNET).[ncbi.nlm.nih.gov]
Constipation
  • Here we describe a girl of 4½ years age admitted with the complaints of, low back pain for 2 months, gradually worsening weakness in both lower limbs for the same duration along with urinary incontinence and constipation for 1 month.[ncbi.nlm.nih.gov]
  • Additionally, a tumor in the presacral space may result in foot pain and constipation.[symptoma.com]
Right Flank Pain
  • The patient was a young woman, and she presented with sudden right flank pain clinically. Ultrasonography revealed a large heterogeneous mass in the lower pole of her right kidney.[ncbi.nlm.nih.gov]
  • CASE REPORT A 22-year-old female presented with complaints of right flank pain and hematuria for six weeks. The patient described the pain as mild, dull, aching and non-radiating.[wjgnet.com]
Odynophagia
  • A 21-year-old male visited our hospital with a complaint of aggravating dysphagia and odynophagia for a few days. Esophagogastroduodenoscopy showed huge bulging mucosa with an intact surface causing luminal narrowing at 35 cm from the incisor teeth.[ncbi.nlm.nih.gov]
Chest Pain
  • Additionally, patients with a pulmonary PNET experience fever, cough, hemoptysis, dyspnea, and chest pain as well as symptoms based on involved neighboring structures.[symptoma.com]
  • We suggested that the mass caused the acute onset chest pain due to pushing the LIMA graft. It may cause blood flow deterioration from LIMA graft to cardiac vessel.[trjemergmed.com]
  • The most common presentation of lung PNETs are cough, chest pain, dyspnoea, hemoptysis or even fever like other lung pathologies.[tlcr.amegroups.com]
  • Our case was a 16-year-old patient with symptoms consisting of chest pain and shortness of breath.[journals.lww.com]
  • Case report On December 25, 2012, a 51-year-old female presented with intermittent chest pain that had been apparent for one year. The physical examination was unremarkable.[spandidos-publications.com]
Foot Pain
  • Additionally, a tumor in the presacral space may result in foot pain and constipation.[symptoma.com]
Scalp Mass
  • This entity may initially be presented to the dermatologist as a scalp mass and should be considered in the differential diagnosis of infants with rapidly growing head and neck lesions.[ncbi.nlm.nih.gov]
Neck Swelling
  • We reported a case of a 44-year-old woman who presented with the left unilateral facial and neck swelling.[ncbi.nlm.nih.gov]
Incontinence
  • A 38-year-old woman presented to our emergency room with acute onset lower extremity weakness and urinary incontinence.[ncbi.nlm.nih.gov]
  • Here we describe a girl of 4½ years age admitted with the complaints of, low back pain for 2 months, gradually worsening weakness in both lower limbs for the same duration along with urinary incontinence and constipation for 1 month.[ncbi.nlm.nih.gov]
  • […] is close to the nuclei (centers in the brain) that regulate eye movements and coordination Symptoms of PNET of the spine may include: back and/or leg pain slow development of weakness in the legs impairment of bowel and/or bladder function, including incontinence[childrenshospital.org]
  • There was decreased fine touch and temperature sensation below C3 with urinary incontinence. The magnetic resonance imaging showed a retroperitoneal mass with C2-C3 metastasis with prevertebral and anterior epidural component enhancing on contrast.[ijpmonline.org]
  • Relative contraindications include inconvenient isolation conditions, urinary incontinence, progressive deterioration in renal functions (GFR 30 ml/min) and myelotoxicity (WBC 3.0 10 9 /l, PLT 100 10 9 /l).[intechopen.com]
Urinary Incontinence
  • A 38-year-old woman presented to our emergency room with acute onset lower extremity weakness and urinary incontinence.[ncbi.nlm.nih.gov]
  • Here we describe a girl of 4½ years age admitted with the complaints of, low back pain for 2 months, gradually worsening weakness in both lower limbs for the same duration along with urinary incontinence and constipation for 1 month.[ncbi.nlm.nih.gov]
  • There was decreased fine touch and temperature sensation below C3 with urinary incontinence. The magnetic resonance imaging showed a retroperitoneal mass with C2-C3 metastasis with prevertebral and anterior epidural component enhancing on contrast.[ijpmonline.org]
  • Relative contraindications include inconvenient isolation conditions, urinary incontinence, progressive deterioration in renal functions (GFR 30 ml/min) and myelotoxicity (WBC 3.0 10 9 /l, PLT 100 10 9 /l).[intechopen.com]
Enlarged Uterus
  • These patients also have cervical lesions and an enlarged uterus.[symptoma.com]
Headache
  • A 74-year-old woman presented with gradually progressive painless diminution of vision in both eyes alongwith headache for 6 months duration. Radiology demonstrated a clival mass as well as a suspected intracranial metastasis.[ncbi.nlm.nih.gov]
  • He was evaluated for low backache and occipital headache 2½ years earlier and was found to have communicating hydrocephalus on CT scan. He underwent ventriculoperitoneal shunt and was followed up with CT scans.[ncbi.nlm.nih.gov]
  • The case of a 36-year-old man is reported, who presented with a progressively worsening headache for 2 months. Magnetic resonance imaging (MRI) revealed multiple tubercula on the walls of the lateral and third ventricles.[ncbi.nlm.nih.gov]
  • A 10-year-old boy presented with mood lability, hallucinations, generalized pain, enuresis, and headaches. Initial investigation failed to produce a diagnosis. The symptoms progressed to seizure, back pain, and papilledema.[ncbi.nlm.nih.gov]
  • Some common symptoms occur due to increased pressure within the brain, including: headache (generally upon awakening in the morning) vomiting fatigue /lethargy seizures Pineoblastomas (PNET in the pineal region, a tiny organ near the center of the brain[childrenshospital.org]
Areflexia
  • Abstract We report a young boy who presented with progressive weakness of lower extremities associated with areflexia and abnormal electrophysiological findings initially suggestive of chronic inflammatory demyelinating polyneuropathy.[ncbi.nlm.nih.gov]
Hyperactivity
  • Positron emission tomography-computed tomography revealed several hypermetabolic thyroid nodules with no evidence of intravenous hyperactive lesion. The patient underwent tumor resection under cardiopulmonary bypass.[ncbi.nlm.nih.gov]

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.

Left Pleural Effusion
  • A nonfunctional left adrenal mass (14.6 10.5 10.0 cm) on computed tomography (CT) was detected in a 40-year-old lady with abdominal pain, swelling, and left pleural effusion.[ncbi.nlm.nih.gov]
  • CT scans revealed liver matastases, retroperitoneal lymphadenopathy, small left pleural effusion and few illdefined pulmonary lesions. Bone scan revealed bone metastases. Complete blood picture showed normocytic normochromic anemia.[sjkdt.org]
Glomerular Filtration Rate Decreased
  • The estimated glomerular filtration rate decreased to 75% after the end of therapy. There was no evidence of recurrence 70 months after initial diagnosis.[ncbi.nlm.nih.gov]

Treatment

  • Multimodality treatments including operation, RT, and chemotherapy should be considered in the initial treatment planning, and salvage chemotherapy was useful in this case.[ncbi.nlm.nih.gov]
  • A trial of watchful waiting can be considered when treatment would involve substantial morbidity or risk of complications.[ncbi.nlm.nih.gov]
  • The diagnosis, treatment, and outcome of MB/CNS-PNET patients treated during the last four decades at Oslo University Hospital (OUH) are described.[ncbi.nlm.nih.gov]
  • Common demographic factors, treatment with surgery, and the extent of surgical resection did not show significant associations with OS. In contrast, treatment with radiation was associated with poorer OS. Copyright 2017 Elsevier Inc.[ncbi.nlm.nih.gov]
  • We show for the first time that this important pediatric tumor may harbor the oncogenic BRAFV600E mutation, providing the first insights to their personalized treatment.[ncbi.nlm.nih.gov]

Prognosis

  • The prognosis of CNS PNET is extremely poor, and the 5-year survival rate does not exceed 35%. In the present study, we describe the first case of a PNET in the ventricles with good prognosis.[ncbi.nlm.nih.gov]
  • Since these tumors are highly aggressive, patient prognosis is typically very poor, and treatment remains a challenge. Here, we report a 13-day-old newborn diagnosed with congenital EWS/pPNET and describe its treatment. Copyright 2014.[ncbi.nlm.nih.gov]
  • The prognosis of this neoplasm is poor as it is associated with a 5-year survival rate less than 25%. The patient's manifestations will reflect the affected organ or system.[symptoma.com]
  • Peripheral primitive neuroectodermal tumor (PNET) in the prostate is one of the most aggressive tumors and a rare, uncommon clinical disease entity with a very poor prognosis.[ncbi.nlm.nih.gov]
  • Establishing the correct diagnosis is critical because renal Ewing sarcoma/primitive neuroectodermal tumor carries a strikingly dismal prognosis and thus dictates a specific treatment strategy.[ncbi.nlm.nih.gov]

Etiology

  • Very little is known about the etiology of MNTI and this report advances knowledge of these rare tumors by providing the first comprehensive genomic, transcriptomic and epigenetic characterization of a case.[ncbi.nlm.nih.gov]
  • Publication types, MeSH terms, Substances Publication types Case Reports Review MeSH terms 12E7 Antigen Abdominal Pain/etiology Adolescent Adrenal Gland Neoplasms/complications Adrenal Gland Neoplasms/diagnosis* Adrenal Gland Neoplasms/genetics Adrenal[ncbi.nlm.nih.gov]
  • Updated, reorganized, and revised throughout, this highly lauded three-volume reference provides an interdisciplinary approach to the diagnosis, treatment, and management of head and neck diseases, including the incidence, etiology, clinical presentation[books.google.ro]
  • 3 months to 8 years) but also reported in adults Most common in maxilla of infants with 2:1 female preponderance (see Mandible - Maxilla Chapter ) Also reported in long bones ( Cancer 1983;52:661 ), uterus, skin and brain Epididymis is uncommon site Etiology[pathologyoutlines.com]
  • Systemic symptoms such as weight loss (14.5%) and fever (9.7%) may occur and must be differentiated from infectious etiologies [5].[austinpublishinggroup.com]

Epidemiology

  • Consequently, we explore the Surveillance, Epidemiology, and End Results (SEER) database to explore the epidemiology of DNT.[ncbi.nlm.nih.gov]
  • Epidemiological, clinical, radiological, pathological, and immunohistochemical examinations were reviewed. A statistical analysis using a t-test was conducted to calculate parameters correlating with tumor recurrence.[ncbi.nlm.nih.gov]
  • Data from the Surveillance, Epidemiology, and End Results (SEER) database were used to describe cumulative relative survival (CRS) using crude, period, and longitudinal period approaches for patients diagnosed with all medulloblastoma subtypes and PNETs[ncbi.nlm.nih.gov]
  • PURPOSE: This study used receiver operating characteristic curves to analyze Surveillance, Epidemiology and End RESULTS (SEER) medulloblastoma (MB) and primitive neuroectodermal tumor (PNET) outcome data.[ncbi.nlm.nih.gov]
  • METHODS: Data from the Surveillance, Epidemiology, and End Results (SEER) database were used to describe cumulative relative survival (CRS) using crude, period, and longitudinal period approaches for patients diagnosed with all medulloblastoma subtypes[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • We reviewed the pathophysiology of the vasospasm that occurs after tumors resection, and due to the rarity of case, we speculated on the possibility that specific histological and molecular features of the tumor could have contributed to the delayed and[ncbi.nlm.nih.gov]
  • Pathophysiology Large, solid tumors: Cerebral supratentorial PNETs are often large at the time of initial diagnosis. On gross examination they are solid with areas of hemorrhage, calcification, necrosis, and cysts.[ispn.guide]
  • Xiaoping Yi is right now a Postdoctoral Fellow in Postdoctoral Research Workstation of Pathology and Pathophysiology, Basic Medical Sciences, Xiangya Hospital, Central South University (No. 185705).[journals.plos.org]
  • All of that changed after the 2016 World Health Organization (WHO) reclassification. [3] Pathophysiology In the brain, medulloblastoma most often arises in the posterior fossa as shown in the image below.[emedicine.medscape.com]

Prevention

  • The high under staging rate may have prevented patients from selecting definitive radiotherapy after surgery.[ncbi.nlm.nih.gov]
  • His research interests include prevention of head and neck cancers, aetiology of oral cancer in young patients, and development of simple, low-cost treatment strategies for head and neck cancers suitable for countries with limited resources.[books.google.it]
  • Knowing what these side effects are can help your care team prepare for and, in some cases, prevent these symptoms from occurring.[danafarberbostonchildrens.org]
  • Currently, there are no specific methods or guidelines to prevent Primitive Neuroectodermal Tumor of Pancreas.[dovemed.com]

References

Article

  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.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2019-07-11 20:57