Diagnosis Of Primitive Neuroectodermal Tumor Research Articles

Renal primitive neuroectodermal tumor in an adolescent: a case report and review of literature

Renal primitive neuroectodermal tumor is a highly malignant neoplasm that commonly affects young adults and infrequently presented in children and adolescents. We report a case of a 14-year-old female child who presented with abdominal mass. PET-CT showed an FDG avid cystic lesion in the inter and lower polar regions of the right kidney, extending into the right renal fat and renal vein, with multiple FDG avid lesions in the axial and appendicular skeleton, suggesting renal mass with bony metastases. Biopsy confirmed the diagnosis of primitive neuroectodermal tumor of the kidney. The patient completed six cycles of chemotherapy with partial response and subsequently the patient defaulted and lost to follow-up. To emphasize the critical significance of renal PNET in the differential diagnosis of renal tumors in children.

Tumor neuroectodérmico primitivo na coluna cervical de um cão - Relato de Caso

ABSTRACT A case of peripheral primitive neuroectodermal tumor in the cervical region of a canine is described. The patient was a canine, male, five years old, large size, with acute neurological clinical signs, severe neck pain and tetraplegia. On computed tomography, an oval-shaped mass located dorsally to cervical vertebrae C4 to C7 was observed, with infiltration over the spinal cord between vertebrae C4 and C5, discreetly widening the dorsal intervertebral foramina of the cervical vertebrae and compressing the dorsal portion of the spinal cord of this segment. Under microscopy, the neoplastic cells were small, irregular in shape and with scarce cytoplasm. Immunoreactivity for vimentin, which can only be expressed in PTNEs tumors, was decisive for diagnostic confirmation. Additionally, the positivity of the S-100 protein, which is expressed in neuroectodermal cells mainly of the neural crest cells, reinforced the classification as PTNE, and the negativity in the expression for glial fibrillary acidic protein (GFAP) ruled out the presence of small cell glioma of the central nervous system. Based on the clinical history, imaging exams, cellular morphology and mainly on immunohistochemical staining, the diagnosis of primitive neuroectodermal tumor (PTNE) with infiltration and compression of the spinal cord in the cervical region of the dog was confirmed, considered uncommon in this species.

GALLBLADDER EWING'S SARCOMA WITH LIVER METASTASIS: A RARE CASE REPORT

Ewing's sarcoma (SE) / primitive neuroectodermal tumor (PNET) occurs most often in soft tissues of the extremities and in the paravertebral areas. As far as we know, there are only two other reports in the gallbladder SE / PNET literature, however, this is the first metastatic case in a 58-year-old man. Microscopically, small round cell neoplasms showed intense positive immunoreactive activity for CD99, as well as for neuron-specific enoase and synaphysophine. The diagnosis of PNET was made based on the characteristic morphology and immunohistochemical findings, with the presence of t (11; 22) (q24; q12) - positive FLI1 chromosomal translocations.

Primary primitive neuroectodermal tumour of the kidney in adults: Experience of managing 12 cases with systematic review and pooled analysis of literature.

Primitive neuroectodermal tumor (PNET) of the kidney is unusual in adults. These tumours are diagnosed mainly on histopathology and that too sometimes has limitations. With this study, we aimed to review our clinical and histopathological data of patients with renal PNET and reviewing the world literature. In this retrospective study, we reviewed our database from January 2006 to July 2018 to include all the cases of primary PNET of the kidney. We also performed systematic literature search to identify all the relevant series on renal PNET. A total of 12 patients including 5 men and 7 women were managed during the above mentioned period. Out of these 7 patients, 2 patients had metastasis at diagnosis, one had locally advanced disease, 6 underwent radical nephrectomy, 5 patients received adjuvant chemotherapy (two currently receiving) and only 1 patient received adjuvant radiotherapy (RT). On Immunohistochemistry (IHC), CD99 and FLI1 were positive in all the patients. Median survival was 10months. In our review 10 studies were included, 38.6% of the patients had metastatic disease and 10.7% had locally advanced disease at diagnosis. Overall mean survival was 33.75months. CD99 and FLI1 were positive in 94.3% and 78.5%, respectively. PNET remains a pathological diagnosis and IHC has important place in diagnosis of PNET. Locally advanced and metastatic disease is common at diagnosis leading to overall poor survival.

Incidental diagnosis of primitive neuroectodermal tumor of uncommon location with unusual presentation metastases

Incidental diagnosis of primitive neuroectodermal tumor of uncommon location with unusual presentation metastases

Unusual Presentation of Peripheral Primitive Neuroectodermal Tumor: A Rare Case Report

A primitive neuroectodermal tumor (PNET) is a rare entity occurring most commonly in the 2nd and 3rd decade and is very rare in patients over 40 years of age. PNET is a round cell malignancy of presumably primitive neuroectodermal tissue or migratory neural crest cells arising from soft tissue or bone. PNET occurring outside the central nervous system is called peripheral PNET (p PNET) and most commonly involves the trunk and extremities Here we present a case of PNET diagnosed in an elderly male who presented with a soft tissue mass in the gluteal region. The histopathology with ancillary techniques including immunohistochemistry and molecular studies helped in establishing the diagnosis of PNET. They are characterized by translocation leading to the fusion of Ewing’s Sarcoma (EWS) gene on 22q12 with any of the member of the ETS (E 26 transformation specific or E -twenty – six) family of transcription factors with the most frequent being t (11;22) (q24;12). Intensive multiagent chemotherapy is the mainstay of treatment as it has great potential for metastatic spread. The prognosis of adults with Ewing’s sarcoma (ES)/PNET is not well known, however, some reports suggested that adults with ES/PNET have a poorer prognosis than children. Cytology is the first line of diagnosis for RCT. However, the type-specific diagnosis or final diagnosis of p PNET is based on histopathology aided with IHC and other ancillary techniques.International Journal of Human and Health Sciences Vol. 05 No. 03 July’21 Page: 358-361

Primary primitive neuroectodermal tumor of the kidney: A rare case report and review of literature

Primitive neuroectodermal tumors (PNET) is an aggressive, rapidly progressing and metastatic tumor. It rarely arises from the kidney and has an incidence of less than 1%. These are usually mistaken for a wide variety of other small round cell tumors. Young adults and children are commonly affected and have an aggressive course. These tumors are mistaken for a wide variety of other small round cell tumors. Here is a case of a 52-year-old female, who presented with flank pain and gross hematuria. The contrast-enhanced computerized tomogram (CECT) revealed a renal mass with a tumor thrombus extending to the renal vein, inferior vena cava, and the right side of the heart. The patient underwent radical nephrectomy along with IVC thrombectomy and chemotherapy. The sections from formalin-fixed surgical specimens were paraffin-embedded and stained with H & E stain. Immunohistochemistry (IHC) was performed.Histology revealed small round to oval cells with hyperchromatic nucleus and very scanty cytoplasm. Frequent mitotic figures were noted. Few rosettes were seen at places. Tumor was seen invading the perirenal adipose tissue. The tumor thrombus extended into the right atrium and the right ventricle. IHC evaluation revealed the tumor cells showed a strong positivity for CD99, synaptophysin, neuron-specific enolase, vimentin, and were negative for CD45, pan-cytokeratin, and desmin. Thus, the histological examination and IHC helped in getting a definite diagnosis of PNET involving the kidney. The patient has been undergoing chemotherapy. PNET has an aggressive clinical course with a poor prognosis. Renal PNET bears many similarities to other small round cell tumors; hence it is important to review the histologic features and immunostaining for definitive diagnosis. Due to the rarity of the disease, there is no standard guideline regarding its management. Achieving accurate diagnosis facilitates the prolongation of survival with definitive treatment.

Second New Primary PNET of Kidney in a Treated Case of Carcinoma Breast: A Case Report

Primitive Neuroectodermal Tumour (PNET) is a member of small round cell “Blue tumour” family. The overall incidence of PNET is <1%. PNET of kidney is uncommon and was first reported in 1975. Since the first report around 150 cases have been published in medical literature. It exhibits highly aggressive behaviour. It usually affects young adults and has a male predominance of 3:1. Only six cases of PNET of kidney have been reported in older patients and PNET of kidney as a second new primary has rarely been reported, only three cases of renal PNET with history of an earlier or synchronous primary cancer were reported in literature from the USA, Germany and China. Here, the author reported a case of renal PNET in a 48-year-old female who has been treated for right breast cancer by surgery, adjuvant chemotherapy and radiotherapy three years (July 2015) prior to diagnosis of PNET of left kidney. Upon diagnosis, patient underwent left nephrectomy. Postoperatively, patient was started on Ewing’s Family of Tumours (EFT) 2001 protocol. Patient completed induction therapy followed by radiation to tumour bed with concurrent weekly single agent vincristine and was planned for maintenance chemotherapy. After one cycle of maintenance chemotherapy, patient developed severe febrile pancytopenia and was admitted in the ICU, even after aggressive medical line of management, patient could not be revived. Although, the patient tolerated the treatment protocol for breast malignancy well and the primary was under control but after three years, with the diagnosis of a very rare second new primary PNET of left kidney which has a very aggressive nature and poor prognosis, the patient could not tolerate the multimodality treatment which was required.

Genomic Molecular Classification of CNS Malignancies.

Molecular studies have identified distinct genomic drivers providing insights in biology of brain tumors. Advances in genetic and epigenetic analysis, as well as development of mutation-specific antibodies enable more accurate classification of histologically indistinguishable tumors. Compared with histopathologic grading, molecular biomarkers are also superior in predicting natural behavior of tumors and therapeutic response. Diffuse gliomas can be separated in astrocytoma and oligodendroglioma based on IDH1/2, ATRX, and TP53 mutational status. Pediatric gliomas are molecularly distinct from adult tumors and molecular drivers include histone H3 genes and fusions involving the MAPK pathway. Using genetic and epigenetic profiling, ependymal tumors, medulloblastomas, and atypical teratoid/rhabdoid tumors can be separated in biologically and clinically distinct entities. Identification of novel gene fusions and matched DNA methylation signatures enable accurate diagnosis of primitive neuroectodermal tumors, which were previously misdiagnosed. Genomic classification of central nervous system tumors is being readily translated into the clinical practice and will enable molecularly based patient management and clinical trials.

Primitive neuroectodermal tumors: a clinical and radiological analysis of six cases.

Primitive neuroectodermal tumor (PNET) is extremely rare and highly aggressive with poor prognosis. Few studies concerning PNET's the imaging features have been published. Six cases of PNET, all confirmed by pathology and immunohistochemical (IHC) examinations, were treated during January 2012 to December 2016. These cases' clinical course and imaging findings were retrospectively analyzed. Among six PNET cases, one located in left superior abdomen, one case at posterior abdominal wall, one case in right orbit, one case in left frontal temporal lobe, one case in pelvic cavity, and one case located in left supraclavicular fossa. The tumor's density was uniform for small tumor and heterogeneous for large tumors on CT images, while the size of tumors differed during presentation depending on the location of the tumor. Marked enhancement was visualized after injection of contrast media. The demarcation between the lesion and adjacent tissues or organs tended to be unclear. On magnetic resonance imaging (MRI) images, the mass mainly showed heterogeneously long T1 and long T2 signal intensity, mixed high signal intensity on fluid-attenuated inversion recovery (FLAIR) image. In two cases maximum intensity projection image reconstruction demonstrates tortuous blood vessels within the tumor on enhanced CT images. Five cases were treated by surgical resection with two cases received adjuvant radiotherapy and three cases received adjuvant chemotherapy. Six patients were followed up with a mean period of 34.5 months (ranging from 6 to 55 months). Five patients survived and one died. Among the five patients undergoing surgeries, one patient presented pelvic and abdominal recurrence/metastasis 2 months after abdominal PNET resection. One patient had a recurrent lesion in the right orbit involving the right ethmoid sinus 6 months after right orbital PNET resection. One patient's pelvic tumor recurred 7 months after PNET operation, and this patient died after 1 year and 10 months of follow-up. During the follow-up period, the remaining three cases did not show obvious recurrence and/or metastasis. Overall, the imaging appearances of PNET lack characteristics. PNETs generally do not have clear boundary, or partially so, with its adjacent organs or tissues suggesting their invasive nature. Upon further validation, maximum intensity projection image reconstruction demonstrates tortuous blood vessels within the tumor on enhanced CT images may be valuable information for the diagnosis of PNET.

Primary primitive neuroectodermal tumor of spinal cord

Primarily spinal primitive neuroectodermal tumors are rare neoplasm. A 28-year-old female presented with complaints of pain in lower back, radiating to both lower limbs. Magnetic resonance imaging scan of the lumbosacral spine showed an intradural extramedullary space-occupying lesion. The patient underwent L2–L5 laminectomy with excision of the lesion. Histopathology and immunohistochemistry reports confirmed the diagnosis of primitive neuroectodermal tumor while a thorough metastatic workup ruled out secondary to the spinal cord. The patient developed recurrence at local site within a month after surgery, even before the adjuvant treatment could be started. She is being treated with chemotherapy (human resources protocol).

Primary Ewing Sarcoma of the Body of Cervical Spine

Primitive neuroectodermal tumors (PNETs) are malignant neo­ plasm originating from neural crest cells that generally affects children and young adults (4–15 years). Ewing sarcoma family of tumors occurs most commonly in the long bones of the extre­ mity and less commonly in the spine. We present a case of a 21 years old male with acute onset neck and left upper extre­ mity pain which rapidly progressed to spastic paraplegia without bladder bowel involvement. He underwent a C7 corpectomy and titanium cage fixation. Immunohistochemistry clinched the diagnosis of PNET/ Ewing sarcoma. Our case was unique in the primary involvement of the body of cervical vertebra in a young adult which was very similar to Kochs spine.

Clinical analysis of primitive neuroectodermal tumors in the female genital tract: A report of three cases

Primitive neuroectodermal tumors (PNETs) in the genital tract are very rarely encountered by gynecologists. They are a member of the Ewing sarcoma family. Primitive neuroectodermal tumors encompass a group of embryonic tumors with varying degrees of neuronal differentiation. Peripheral PNETs are small round blue cell tumors with a neuroectodermal origin [1]. Most PNETs of the genital tract occur in the ovary, and more rarely in the vulva, vagina, cervix, and uterus. The literature has only a few case reports and small case series on PNET of the genital tract. In this correspondence, we report three rare cases of PNET with genital tract origin that arose from the vulva, uterus, and ovary, and we assess the clinical characteristics of these neoplasms. We have diagnosed three cases of PNET of the genital tract, the clinical features of which are described in Table 1. The PNETs had a wide range of age distribution and clinical presentation. The tumors ranged in size from 4 cm to 35 cm. Medical histories and imaging studies alone are inadequate for a definitive diagnosis of PNET. Primitive neuroectodermal tumors can be diagnosed via histological investigation of a sample. It is characterized as small round cells with the formation of pseudo-rosettes and HomereWright rosettes [2].

A Rare Aggressive Fetal Intracranial Tumor

AbstractCongenital brain tumors, especially tumors diagnosed before birth, are very rare. This article describes a case of primitive neuroectodermal tumor (PNET) diagnosed by ultrasonography at 24 weeks of gestation. Follow-up ultrasound study and MRI at 27 weeks of gestation revealed aggressive growth and complications of tumor. The diagnosis was confirmed at autopsy. Prenatal diagnosis of PNET or other congenital brain tumors is important because the presence of tumors may alter the time and mode of delivery and planning of postnatal care.

Rapidly progressive primitive neuroectodermal tumor of the prostate: A case report and review of the literature.

The present study reports a rare case of primitive neuroectodermal tumor (PNET) of the prostate. A 23-year-old male presented to Oita Medical Center (Oita, Japan) with the complaint of dysuria and anal pain. A large mass in the prostate and a number of swollen lymph nodes in the pelvic region were identified by a computed tomography scan and magnetic resonance imaging. The patient was, thus, admitted to Oita University Hospital (Yufu, Japan), where a biopsy of the prostate gland was performed. Histological analysis revealed small round cells that were positive for MIC-2 expression and fluorescent in situ hybridization analysis detected a translocation involving Ewing sarcoma breakpoint region 1 at chromosome 22q12. Thus, a diagnosis of PNET of the prostate was established. Systemic chemotherapy was the selected treatment, however, a poor response was obtained. The patient succumbed approximately four months after the initial onset of symptoms. PNET of the prostate has been reported in eight cases worldwide; in comparison, the present case exhibited the most unsatisfactory outcome.

A spontaneously ruptured primitive neuroectodermal tumor of the kidney: a case report and treatment strategy

Ewing sarcoma family tumor, including Ewing sarcoma (EWS), primitive neuroectodermal tumor (PNET), and Askin’s tumor, is a group of poorly differentiated, aggressive malignancies that typically arise in bone, soft tissues, and chest wall, respectively. EWS/PNET occurs rarely as a primary renal neoplasm. Renal EWS/PNET exhibits highly aggressive biological behavior and poor prognosis. Treatment strategies for EWS/PNET include surgery, chemotherapy and radiotherapy. A 39-year-old man was admitted with right flank pain and hematuria. An urgent abdominal computed tomography with contrast revealed a 11 × 7 cm, slightly enhanced solid mass in the right lower pole of kidney with rupture and retroperitoneal hemorrhage. Selective angiograms of the right renal artery and transcatheter arterial embolization (TAE) were performed. Following the embolization, his vital sign stabilized. Two days after the TAE, the patient underwent right nephrectomy and adrenalectomy. The histopathological specimen showed sheet-like monotonous proliferation of small round cells with hyperchromatic oval prominent nuclei. Immunostaining technique showed positive CD-99, neuron-specific enolase and vimentin, leading to the diagnosis of PNET. Adjuvant chemotherapy with nine courses of VAIA (vincristine, actinomycin D, ifosfamide, and doxorubicin) was performed. There was no recurrence 17 months after the operation. Our report is the second case of spontaneously ruptured renal PNET. We review the published series of the renal EWS/PNET and comment the treatment strategy of renal EWS/PNET.

Primitive neuroectodermal tumor originating in the vulva: A case report.

Primitive neuroectodermal tumors (PNETs) exhibit chromosomal translocations in common with those of Ewing’s sarcoma. They usually originate in bone or soft tissue but rarely arise in the vulva. The current case report presents a case of PNET originating in the vulva in a 60-year-old female, who previously underwent enucleation of a vulvar tumor in another hospital. The pathologist suspected a histopathological diagnosis of PNET, and simple vulvectomy and resection of the inguinal lymph nodes were performed. An ~3 cm mass recurred in the right side of the vulva four years following the initial surgery and the tumor was excised. The tumor comprised small, round-to-oval nuclei and stained positively for MIC-2, synaptophysin, neuron-specific enolase and neurofilament antibodies. To date, the patient remains alive and with no evidence of disease four years following multidisciplinary treatment, despite PNETs usually exhibiting a poor prognosis. This is due to the small tumor size and the absence of distant metastasis.

A Case Series of Transformation of Teratoma to Primitive Neuroectodermal Tumor: Evolving Management of a Rare Malignancy

Primitive neuroectodermal tumor (PNET) is a pathologic diagnosis that encompasses several different tumor types, including central nervous system tumors and Ewing’s sarcomas. Teratoma, a common element of germ cell tumor (GCT), has the ability to transform to malignant PNET in a small number of patients. Making a definitive diagnosis of PNET is difficult given its deviation from elements of GCT and its non-specific pathologic findings. Establishing the diagnosis is crucial as PNETs respond poorly to standard platinum-based chemotherapy used for treatment of GCT. Primary treatment for PNET is surgical, though this is often not feasible in many patients due to extensive disease at diagnosis. As an alternative, chemotherapy regimens traditionally used for Ewing’s sarcoma, such as vincristine, doxorubicin and cyclophosphamide alternating with ifosfamide and etoposide, have shown limited efficacy in the neoadjuvant, adjuvant, and palliative settings. Future research should delineate the genetic underpinnings of PNET and develop therapeutic options accordingly.

Successful penile reconstruction after multimodal therapy in patients with primitive neuroectodermal tumor originating from the penis

We herein present an extremely rare case of primitive neuroectodermal tumor originating in the penis. A 16-year-old male adolescent presented with painful penile swelling. Pathological, immunohistochemical and cytogenetical examinations of the specimens obtained from total penectomy confirmed the diagnosis of primitive neuroectodermal tumor. After total penectomy, the patient received adjuvant chemotherapy with ifosfamide-based regimen for 48 weeks. As a series of therapies, the patient underwent penile reconstruction surgery after completing adjuvant chemotherapy. The patient has not shown any evidence of recurrence for the 7 years after penile reconstruction surgery, and voiding function is completely normal. A favorable outcome was observed by multimodal therapy including aggressive resection for local control, intensive adjuvant chemotherapy, and penile reconstruction with cosmetic and functional success. Similar therapeutic approaches might be selected for children with primary malignant tumors of the penis.

Primitive Neuroectodermal Tumour in a Striped Dolphin (Stenella coeruleoalba) with Features of Ependymoma and Neural Tube Differentiation (Medulloepithelioma)

Primary brain tumours in cetaceans are rare with only four reported cases of intracranial tumours in the scientific literature. A juvenile female, striped dolphin live-stranded at Whitepark Bay, Co Antrim, Northern Ireland, UK, and died after an unsuccessful attempt at refloatation. Necropsy examination revealed a large, soft, non-encapsulated friable mass, which expanded and replaced the frontal lobes, corpus callosum and caudate nucleus of the brain and extended into the lateral ventricles, displacing the thalamus caudally. Microscopically, this comprised moderately pleomorphic neoplastic cells arranged variably in dense monotonous sheets, irregular streams, ependymal rosettes, 'ependymoblastomatous rosettes' and multilayered to pseudostratified tubules. Liquefactive necrosis, palisading glial cells, haemorrhage and mineralization were also observed. Immunohistochemically, the neoplastic cells expressed vimentin but not S100, glial fibrillary acidic protein, cytokeratin, neuron-specific enolase or synaptophysin. Based on these findings a diagnosis of primitive neuroectodermal tumour was made. Monitoring and recording such cases is crucial as neoplasia may be related to viral, carcinogenic or immunosuppressive chemical exposure and can ultimately contribute to assessing the ocean health.