Ocular non-teratoid medulloepithelioma with teratoid metastases in ipsilateral intraparotid lymph nodes.

PURPOSE: To describe a rare presentation of a case of intraocular non-teratoid medulloepithelioma with teratoid metastases in ipsilateral intraparotid lymph nodes. CASE DESCRIPTION: A 9-year-old male child with previous history of ciliary body non-teratoid medulloepithelioma presented with a swelling in the right pre-auricular region for 1 month. Magnetic resonance imaging and positron emission tomography-computed tomography showed a right intraparotid mass with enlarged ipsilateral cervical lymph nodes. A core biopsy was taken from the lesion, which on microscopy showed a tumor composed of small round cells arranged in cords, tubules lined by multilayered cells, and in cribriform pattern. These cells were embedded in a hypocellular, loose myxoid matrix. Based on the histopathological characteristics and previous history, a diagnosis of medulloepithelioma metastastic to ipsilateral parotid gland was made. The patient underwent right total conservative parotidectomy and bilateral neck dissection. Histopathological examination revealed metastatic medulloepithelioma in five out of eight intraparotid lymph nodes, with extranodal extension into the adjacent parotid parenchyma. Foci of hyaline cartilage were identified within the tumor, leading to a diagnosis of metastatic teratoid medulloepithelioma. CONCLUSION: Intraparotid lymph node metastases from intraocular medulloepithelioma is a rare possibility and we recommend that the parotid should be evaluated in cases of intraocular medulloepithelioma at initial presentation as well as during the follow-up period. Also, metastasis should be considered in all pediatric patients with solitary mass lesions showing unconventional histology for a primary parotid neoplasm.

Colonic Ewing Sarcoma/PNET associated with liver metastases: A systematic review and case report.

Ewing Sarcoma is a highly lethal undifferentiated tumor of bone. ES is a small round cell tumor with etiological and characteristic chromosomal translocations between TET/FET (TLS/FUS, EWSR1, and TAF15) and ETS (E26 transformation-specific) family genes. Generally, therapeutic approach for metastatic Ewing Sarcoma includes both local (surgery and radiotherapy) and systemic (chemotherapy) disease control with an overall cure rate of 20%. For extra-osseous tumors, the most common primary sites of disease are trunk, extremities, head and neck, retroperitoneum. Among other sites, Ewing Sarcoma/PNET may also rarely arise in colon and rectum. Even if colonic Ewing Sarcoma/PNET have been previously reported in 5 cases, none of those reports came from right side of the colon. In this article, we report the first case of right-sided Ewing Sarcoma with synchronous liver metastases completely responding to first line chemotherapy. Furthermore, we provide a systematic qualitative review of the current literature on adult colorectal Ewing Sarcoma using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).

Primitive neuroectodermal tumour of kidney with thrombosis of the inferior vena cava and good responsive to surgical and medical treatment: description of a case and revision of literature.

Primitive neuroectodermal tumour (PNET) of kidney is a rare cancer typical of young adults with few cases described in the literature. We report a case of renal PNET in a 31-year-old man who presented to our department with a computed tomographic (CT)-scan revealing a large renal mass of 20 cm, massive thrombosis of the inferior vena cava (IVC). The patient underwent radical nephrectomy with contextual retroperitoneal lymphadenectomy and resection of IVC needing Dacron prosthesis substitution. Definitive histopathological examination showed PNET of kidney infiltrating ipsilateral adrenal gland, massive cava thrombosis with infiltration of vena cava wall and one lymph nodal metastasis. Postoperative PET-scan showed metastatic lesions in bilateral adrenal glands and pancreas. The patient received chemotherapy, and currently, he is in follow-up after 26 months from first diagnosis without any sign of recurrence of disease. Kidney PNET usually is associated with poor prognosis, so, it needs an early identification and differentiation from other similar small cells tumours in order to obtain a good response to the treatments.

18F-FDG PET/CT in a cardiac metastasis in a patient with history of malignant neuroectodermal tumour of the chest wall: Case report and review of the literature. / PET/TC con 18F-FDG en metástasis cardíaca en un paciente con antecedente de tumor neuroectodérmico maligno de la pared torácica (tumor de Askin): caso clínico y revisión de la literatura.

The case presented is a 25-year-old male with a malignant neuroectodermal tumour on the left chest wall (Askin tumour), treated with surgery after neoadyuvant chemotherapy and followed by consolidation chemotherapy. After 9 years of disease free survival, the patient developed an acute pulmonary embolism. The echocardiogram, thoracic CT, and cardiac MRI scans revealed a mass in the right atrium. Recurrence of an Askin tumour versus an atrium myxoma was suspected. 18F-FDG PET/CT showed an intense hypermetabolic right atrium mass with extension to the right ventricle highly suggestive of malignancy. The result of the histopathology examination after biopsy and subsequently exeresis of the right atrium mass was consistent with a metastasis of the primary tumour.

Recurrent spinal primitive neuroectodermal tumor with brain and bone metastases: A case report.

RATIONALE: Primary spinal primitive neuroectodermal tumor (PNET) is relatively rare in all age groups, and the prognosis in most cases of spinal PNETs appears to be poor, with a median patient survival of 1 to 2 years. We present a case with recurrent spinal PNET with brain and bone metastases that was successfully treated by multimodality treatment. PATIENT CONCERNS: A 14-year-old teenage girl had suffered from progressive left upper back pain with bilateral lower legs weakness and numbness for 1 year. After treatment, left neck mass was noted 3 years later. DIAGNOSES: Initially, magnetic resonance imaging (MRI) showed neurogenic tumor involving intradural extramedullary space of T5-T10. Pathology report showed PNET (World Health Organization grade IV) featuring lobules of neoplastic cells with round regular nuclei, high nucleus-to-cytoplasm ratio, and fibrillary cytoplasm. At the time of tumor recurrence, chest MRI then showed recurrent tumor at T2-T3 level of the epidural space with right neural foramina invasion. Brain MRI showed extensive bilateral calvarial metastases and leptomeningeal metastases in the right frontoparietal regions. Bone scan showed multiple bone metastases. INTERVENTIONS: T-spine tumor removal and adjuvant radiotherapy (RT) to T-spine tumor bed were performed in the initial treatment. After clinical tumor recurrence, tumor removal was done again. She then received chemotherapy followed by whole brain irradiation with hippocampal sparing with 35 gray in 20 fractions. OUTCOMES: After treatment, follow-up images showed that the disease was under control. There was no neurological sequela. She has survived more than 7 years from diagnosis and more than 4 years from recurrence to date. LESSONS: Multimodality treatments including operation, RT, and chemotherapy should be considered in the initial treatment planning, and salvage chemotherapy was useful in this case.

Fine-Needle Aspiration of Metastatic Central Type Primitive Neuroectodermal Tumors in Patients with a Germ Cell Tumor.

OBJECTIVE: Central type primitive neuroectodermal tumors (PNET) are some of the most frequent somatic type tumors derived from germ cell tumors and can metastasize. We studied the cytomorphological features of metastatic central type PNET by fine-needle aspiration (FNA). MATERIALS AND METHODS: A computerized search of our laboratory information system was performed for the 9-year period from 2005 through 2014 to identify all cytology cases in which a diagnosis of metastatic central type PNET had been rendered. A total of 5 FNA cases were collected and direct smears were reexamined. RESULTS: All patients had a history of testicular or ovarian germ cell tumors. Direct smears displayed single and clusters of atypical round to oval cells with scant to moderate cytoplasm. Abundant naked nuclei were present in Diff-Quik-stained smears with mild to marked crushed artifacts and nuclear molding. Tumor cells showed fine granular chromatin, nuclear size variation (up to 1:3), and one or more small nucleoli. Pseudorosettes (Homer Wright-like rosette) were noticed in 1 case. Tumor cells were commonly positive for synaptophysin. CONCLUSION: Metastatic PNET can be reliably diagnosed by FNA. Differential diagnoses include Ewing sarcoma/peripheral PNET, alveolar rhabdomyosarcoma, neuroblastoma, etc. It is important to be familiar with this entity to avoid diagnostic pitfalls.

Malignant Ciliary Body Medulloepithelioma With Brain and Parotid Metastasis.

A 12-year-old girl with malignant ciliary medulloepithelioma and parotid metastasis was treated with semi-exenteration of the orbit and external beam radiotherapy. She had brain metastasis 7 months later and was treated with salvage chemotherapy. The patient was disease free at 11 months of follow-up. In aggressive cases, exenteration combined with radiotherapy and chemotherapy are necessary for disease control. [J Pediatr Ophthalmol Strabismus. 2017;54:e18-e22].

Rapidly progressing central-type primitive neuroectodermal tumor of the ovary: a case report.

Primitive neuroectodermal tumors (PNET) belong to a group of highly malignant tumors comprised of small round cells of neu- roectodermal origin. These tumors can be either of peripheral-type (Ewing family tumors/PNET) or central-type. A number of case re- ports have described PNET involving the gynecologic organs and the prognosis is generally poor. The authors describe the case of a 53-year-old woman with a rapidly progressing central-type PNET of the ovary.

Clinical behavior of intraocular teratoid medulloepithelioma in two-related Quarter Horses.

The objective of this paper is to describe clinical behavior, histopathologic features, and immunohistochemical staining of two-related horses with intraocular teratoid medulloepithelioma. Two-related Quarter Horses with similar intraocular masses presented to the UF-CVM Comparative Ophthalmology Service for evaluation and treatment. The first horse, a 3-year-old gelding, had glaucoma and a cyst-like mass in the anterior chamber. Enucleation was performed. Histopathology revealed a teratoid medulloepithelioma. The tumor was considered to be completely excised. Fifteen months later, the gelding presented with swelling of the enucleated orbit and local lymph nodes with deformation of the skull. Cytology revealed neuroectodermal neoplastic cells. Necropsy confirmed tumor metastasis. Six weeks later, a 9-year-old mare, a full sibling to the gelding, presented for examination. An infiltrative mass of the iris and ciliary body was found that extended into the anterior, posterior, and vitreal chambers. Uveitis was present, but secondary glaucoma was not noted. Enucleation was performed and the histopathologic diagnosis was also teratoid medulloepithelioma. The mare has had no recurrence to date, 2 years following enucleation. Metastasis of intraocular teratoid medulloepithelioma is possible. Staging is recommended in cases where the diagnosis of teratoid medulloepithelioma is confirmed. Surveillance of full siblings is recommended until more information regarding etiology is known.

Intraocular Teratoid Medulloepithelioma Presenting With a Completely Rhabdomyosarcomatous Distant Metastasis.

IMPORTANCE: Medulloepithelioma is the second most common primary neuroepithelial tumor of the eye. The full range of its morphologic expressions and appearances in metastases have not been fully explored. OBSERVATIONS: A patient in her 50s with glaucoma for decades had undergone multiple filtering surgical procedures, including the placement of a glaucoma drainage device. A paraspinal mass was discovered, and tumor and bone marrow biopsies disclosed rhabdomyosarcoma. This led to the discovery of a multicystic intraocular tumor. A metastatic rhabdomyosarcoma to the eye was considered unlikely because, to our knowledge, this event had never been reported. An enucleation was performed, and an intraocular tumor composed almost entirely of rhabdomyoblasts (desmin- and myogenin-positive) was discovered along with rare clusters of persistent neuroepithelial cells. CONCLUSIONS AND RELEVANCE: To our knowledge, this is the first case of a medulloepithelioma in which teratoid rhabdomyoblasts effaced all but trace amounts of neuroepithelium and generated a distant metastasis entirely composed of rhabdomyoblasts. The prolonged history and filtering procedures probably led to these 2 phenomena.

Primary Ewing's Sarcoma/Primitive Neuroectodermal Tumor of Kidney with Caval Involvement in a Pregnant Woman.

In this article, we report the case of a woman in whom was found an abdominal mass during pregnancy and who underwent nephrectomy and extraction of the emboli after delivery. The kidney had a volume of 15 × 10 × 8 cm and pathological diagnosis was primary Ewing's sarcoma. The patient was treated with conventional chemotherapy for 1 year after surgery, at which time multiple metastases were found. From this case, we surmise that hormonal changes that occur during pregnancy may accelerate the growth of Ewing's sarcoma of the kidney, suggesting that renal tumors in pregnant women demand serious attention and that anti-cancer treatment should begin as soon as possible.

Antracyclin toxicity in a child with primitive neuroectodermal tumor of the chest wall with and brain metastasis.

Chemotherapy regimens, including doxorubicin used in primitive neuroectodermal tumor's (PNET) treatment can cause life-threatening disorders in cardiac functions. Follow-up of cardiac functions in the clinical course is very important during treatment with ejection fraction (EF) and shortening fraction (SF). However, sometimes the detection of cardiac failure with EF and SF cannot be possible. In this condition, we may need new evaluation test. Herein, we wanted to present a child with PNET of the chest wall suffered from antracycline toxicity and indicate that close monitoring of cardiac function could be important.

[A CASE OF PRIMITIVE NEUROECTODERMAL TUMOR OF THE TESTIS].

A 44-year-old man discovered a swollen right testis more than 4 years earlier. He was brought to our hospital because of abdominal pain and vomiting. Enhanced computed tomography (CT) showed a swollen right testis, lung nodules, and swollen retroperitoneal and mediastinal lymph nodes. The swollen lymph nodes compressed the duodenum, causing ileus. HCG, HCG-ß, and AFP levels were normal, but the LDH level was high (2,933 IU/L). A diagnosis of testicular cancer with lung and lymph node metastases was made, and a right orchidectomy was performed. However, the pathological diagnosis was unclear, and it was necessary to consult another pathologist, but this took .6 weeks. While awaiting the pathological diagnosis, the patient was given chemotherapy with two 3-week courses of BEP. On pathological examination, the tumor consisted of small round cells with a rosette-like arrangement. Cartilage and keratinized tissues were also present. Immunohistochemical staining was positive for CD56, synaptophysin, vimentin, GFAP, and CD99 (MIC2), but negative for AE1/AE3, OCT-4, chromogranin, INI-1, and desmin. The patient was then diagnosed as having a primitive neuroectodermal tumor and teratoma. The metastatic lymph nodes decreased in size after chemotherapy; therefore, two further courses of BEP were added. However, CT showed disease progression. The patient refused further therapy and returned home. Eight months later, he was hospitalized because of swollen retroperitoneal and mediastinal lymph nodes and ileus. Despite treatment with radiation therapy, which resulted in decreased lymph nodes, the patient died. This was a very rare case, the first such case in Japan.

A case report of an ependymoblastoma in the rectovaginal space and a review of the literature.

INTRODUCTION: Ependymomas are glial neoplasms that arise at or close to the inner ependymal surface of the ventricular system. They are most frequently located intraventricularly, but they may also occur in the spinal cord or, very seldom, at extraneural sites. Here we report a case of an ectopic ependymoma, arising in the pelvic cavity. CASE REPORT: A 35 year-old female patient was diagnosed with a suspect tumor mass in the rectovaginal space, infiltrating the perirectal adipose tissue and the vagina. Three years later, liver and peritoneal metastases of the same tumor were diagnosed. Two years after that, the patient experienced a recidive in the left adnexa. Histological analysis revealed an anaplastic tumor of dual nature, comprising of mesenchymal and epithelial features. There were ependymoma-like rosettes and pseudorosettes, indicating an ependymal differentiation. Immunohistochemically, the tumor was positive for epithelial membrane antigen (EMA) and glial fibrillary acidic protein (GFAP). Accordingly, the diagnosis "grade 3 ependymoma, i.e. ependymoblastoma" was made. REVIEW: Ependymomas are most frequently located in the ventricular system, but may also occur in the spinal cord or rarely at extraneural sites. Extraneural ependymomas represent a diagnostic challenge, since they can mimic other tumor types and the immunohistochemical profile may be non-specific. The most important features of ependymal differentiation are rosette- or pseudorosette formation. Extraneural ependymomas can be located in the ovary or elsewhere in the pelvic cavity. Locations in the lung, liver and the small bowel have also been described. In the present article we review several reported cases of ectopic, extraneural ependymomas. DISCUSSION: The origin of extraneural ependymomas is not completely clarified. They probably arise from glial tissue that is a residue from the embryonic development, pinched-off from the neural tube during its closure. We propose, that extraneural ependymoma should be considered in differential diagnosis for anaplastic tumors of the pelvic cavity.

Malignant teratoid ciliary body medulloepithelioma in a neonate.

Ciliary body medulloepithelioma is an intraocular tumor manifesting in early childhood, rarely at birth. A unique case of intraocular malignant teratoid ciliary body medulloepithelioma in a neonate presenting as buphthalmos at birth is reported. There was rapid progression with extraocular extension within 2 months and developed regional lymph node metastasis despite enucleation. The child underwent lymph node dissection and local radiotherapy with complete remission.

Cutaneous metastasis of primitive neuroectodermal lung tumor.

Primary sarcomas of the chest are rare. Although primitive neuroectodermal tumor (PNET) usually develops in the chest wall, it has been described as a primary pulmonary tumor. We present an unusual case of PNET arising in the lung of an 89-year-old man.

Primitive neuroectodermal tumor (PNET) as somatic-type malignancy arising from an extragonadal germ-cell tumor: clinical, pathological and molecular features of a case.

We report a rare case of a 34-year-old man with a right axillary mass. Ten years previously, he had been diagnosed with a right scapular nonseminomatous germ-cell tumor consisting of teratoma, completely resected without any further treatment. Presently he was found to have a metastatic malignant small round cell tumor consistent with a secondary somatic malignancy arising in the background of nonseminomatous germ-cell tumor, teratoma, yolk sac tumor, and primitive neuroectodermal tumor with distinct chromosome 22 translocation. Although the patient initially responded well to chemotherapy with etoposide, cisplatin, ifosfamide and mesna, he relapsed shortly after.

A case report of adrenocortical carcinosarcoma with oncocytic and primitive neuroectodermal-like features.

Adrenocortical carcinosarcomas are rare aggressive neoplasms; only a few have been reported to date, all with dismal prognosis. These were reported as having varying morphology. We have encountered a case of adrenal carcinosarcoma with an undifferentiated component bearing similarities to primitive neuroectodermal tumors and other areas of oncocytic differentiation. The 48-year-old woman patient presented with abdominal pain and unintended, excessive weight loss. Computed tomographic imaging revealed a tumor located adjacent to the liver and kidney necessitating a partial nephrectomy and hepatectomy. Histologically, the tumor exhibited malignant features. Melan-A, inhibin, calretinin, cytokeratin AE1/AE3, synaptophysin, and neuron-specific enolase were positive immunohistochemically. The patient developed metastasis within 2 months of surgery and is currently alive with disease after chemotherapy. Adrenal carcinosarcoma is a rare highly aggressive malignancy with a wide morphologic spectrum. Recognition of variant morphology and applying correct immunohistochemical studies will aid in reaching an accurate diagnosis.