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Retinoblastoma is the prototypic genetic tumor. Caused by mutations in the RB1 gene, retinoblastomas are heritable in 40% of the cases and, in such cases, tumors are bilateral in 80%, unilateral in 15%, and trilateral in 5% of the cases. Trilateral retinoblastoma is a term that describes bilateral retinoblastomas plus a midline suprasellar or pineal neuroectodermal tumor. Patients with a germline RB1 mutation have 45% chance of having an offspring with retinoblastoma. Prenatal diagnosis is important because the doubling time is fast, ranging from 7 to 15 days. Thus, late diagnosis during infancy is associated with larger tumors and increased risk of death, need for globe enucleation and vision loss. We report a case of bilateral retinoblastomas diagnosed by targeted high-resolution ultrasonography of the orbits at 32 weeks of gestation in a patient at risk. This report demonstrates the feasibility of accurately detecting even tiny retinoblastomas by ultrasound with current technology. We also review prenatally published cases to date and comment on the technical strengths and limitations of ultrasound and fetal MRI for prenatal diagnosis of retinoblastomas.

Background Aggressive malignant primary orbital tumors are extremely rare in newborns. The current cases further clarify the clinical features of malignant primary orbital tumors in neonates. Case summary At the time of presentation at the Seventh Center of People's Liberation Army General (PLAG) Hospital, the children were 1-, 2- and 5-mo-old, respectively, and included 2 boys and 1 girl. All three cases had unilateral proptosis at birth, and underwent mass excision and histopathologic examination. A peripheral primary neuroectodermal tumor, an aggressive infantile fibromatosis and an embryonic rhabdomyosarcoma were diagnosed, respectively. The first case underwent routine chemotherapy following surgery but died within three months due to worsening condition as the tumor spread throughout the body. The other two children were treated by surgery, and at the follow-up visits 6 mo and 1 year after surgery, respectively, the wound was completed healed, and they had normal growth and development without radiotherapy or chemotherapy. A review of highly uncommon orbital tumors in newborns is also provided. Conclusion Malignant primary tumors should be considered in the presence of unilateral proptosis in newborns.

Objectives To assess imaging features of primary renal sarcomas in order to better discriminate them from non-sarcoma renal tumors. Methods Adult patients diagnosed with renal sarcomas from 1995 to 2018 were included from 11 European tertiary referral centers (Germany, Belgium, Turkey). Renal sarcomas were 1:4 compared to patients with non-sarcoma renal tumors. CT/MRI findings were assessed using 21 predefined imaging features. A random forest model was trained to predict “renal sarcoma vs. non-sarcoma renal tumors” based on demographics and imaging features. Results n = 34 renal sarcomas were included and compared to n = 136 non-sarcoma renal tumors. Renal sarcomas manifested in younger patients (median 55 vs. 67 years, p < 0.01) and were more complex (high RENAL score complexity 79.4% vs. 25.7%, p < 0.01). Renal sarcomas were larger (median diameter 108 vs. 43 mm, p < 0.01) with irregular shape and ill-defined margins, and more frequently demonstrated invasion of the renal vein or inferior vena cava, tumor necrosis, direct invasion of adjacent organs, and contact to renal artery or vein, compared to non-sarcoma renal tumors (p < 0.05, each). The random forest algorithm yielded a median AUC = 93.8% to predict renal sarcoma histology, with sensitivity, specificity, and positive predictive value of 90.4%, 76.5%, and 93.9%, respectively. Tumor diameter and RENAL score were the most relevant imaging features for renal sarcoma identification. Conclusion Renal sarcomas are rare tumors commonly manifesting as large masses in young patients. A random forest model using demographics and imaging features shows good diagnostic accuracy for discrimination of renal sarcomas from non-sarcoma renal tumors, which might aid in clinical decision-making. Key Points • Renal sarcomas commonly manifest in younger patients as large, complex renal masses. • Compared to non-sarcoma renal tumors, renal sarcomas more frequently demonstrated invasion of the renal vein or inferior vena cava, tumor necrosis, direct invasion of adjacent organs, and contact to renal artery or vein. • Using demographics and standardized imaging features, a random forest showed excellent diagnostic performance for discrimination of sarcoma vs. non-sarcoma renal tumors (AUC = 93.8%, sensitivity = 90.4%, specificity = 76.5%, and PPV = 93.9%).

Ganglioneuroma (GN) of the gastrointestinal tract is an extremely rare neuroectodermal tumor. Patients with ganglioneuromas have different presentations depending on the location, extent and size of the lesion. We present two cases of ganglioneuromas that had different clinical presentations and outcomes.

Background Primitive neuroectodermal tumor commonly occurs in bones and is equivalent to Ewing’s sarcoma. Very few cases have been reported in the literature and they had a very different presentation and very aggressive behavior. Case presentation We present a case of a young 23-year-old male who presented with complaints of pain in left lumbar region of abdomen since 8 months and hematuria off and on. CT scan of the abdomen was done which revealed a large heterogeneously enhancing mass lesion in the left lumbar region arising from the superior and mid-pole of left kidney showing multiple non-enhancing necrotic areas. A diagnosis of left renal cell carcinoma was kept. Through the transperitoneal approach, the left kidney was approached and a left radical nephrectomy was done. The histopathology report revealed the tumor cells to be positive for CD99 and focally positive for Vimentin and negative for cytokeratin thereby making a diagnosis of primary neuroectodermal tumor (PNET). Conclusions Renal PNET is a rare renal malignancy that should be kept in the differential diagnosis of a renal SOL especially when it is a presenting feature in adolescent and young adult. It has a very aggressive course and multimodal therapy has to be considered in its treatment

Olfactory neuroblastoma (ONB) is a rare malignant neuroectodermal tumor of the nasal cavity. Olfactory neuroblastoma centered in the posterior right orbit with prominent orbital protrusion is even rare. Grading ONB is extremely important as individualized treatment plans must be formulated according to tumor grade. We report the case of a 67-year-old female who presented with the chief complaints of persistent nasal congestion with intermittent epistaxis and unilateral proptosis over the past five years. Radiological imaging was suggestive of a large heterogeneous mass in the right superior nasal cavity with extensions into the right medial orbit, nasopharynx, the right maxillary sinus, the anterior cranial fossa, right ethmoidal, frontal and bilateral sphenoidal sinuses, as well as into the right frontal lobe. Assessment of the radiologic features revealed the diagnostic possibility of olfactory neuroblastoma. A nasopharyngeal biopsy confirmed an olfactory neuroblastoma. Frontal osteoplastic craniotomy and excision of the intracranial part of the tumor from above and transnasal endoscopic removal of the mass in the nasal cavities, paranasal sinuses and right medial orbit from below was done. Evaluation of histopathological characteristics and immunohistochemical findings revealed a diagnosis of WHO grade IV olfactory neuroblastoma. Because of poor economic condition, the patient did not take adjuvant radiotherapy and chemoradiation and post-operative examination. We report a huge ONB centered in the posterior right orbit with prominent orbital protrusion. Magnetic resonance image and computed tomography are helpful for evaluating the appearance and the extent of ONB, as well as grading this tumor, which may aid therapeutic decisions and improve survival.

As the concept of clear cell sarcoma–like tumor or malignant gastrointestinal neuroectodermal tumor (CCS-LT/MGNET) has been widely accepted, primary CCS of the gastrointestinal tract (CCS-GI) is becoming a rare entity. In this article, we describe a case of primary CCS-GI that occurred in the ileum of a 65-year-old male to further illustrate its rare occurrence. Similar to CCS of soft tissue (CCS-ST), the tumor was composed of spindled to epithelioid cells displaying fascicular, nested, or pseudopapillary arrangement. The tumor cells had large round to ovoid nuclei with vesicular chromatin and prominent nucleoli, containing eosinophilic to pale cytoplasm. In contrast to CCS-LT/MGNET, immunohistochemical study also showed variable positivity of HMB45, melan A, and MiTF besides the strong and diffuse staining of S100 protein and SOX10. Fluorescence in situ hybridization (FISH) using fusion probes identified EWSR1 and ATF1 genes rearrangement. Next-generation sequencing (NGS) analysis further revealed EWSR1 exons9/8- ATF1 exon4 and ATF1 exon3- EWSR1 exon11 fusion genes. CCS-GI and CCS-LT/MGNET possibly represent 2 related entities of the same spectrum, which differentiate along 2 different pathways.

Primary intracranial Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET) is an extremely uncommon tumor. Care should be taken as it can be mistaken for a meningioma radiologically.This paper reports a case of a 44-year-old male presenting with headache. A magnetic resonance imaging demonstrated a mass involving the tentorium, cerebrum and cerebellum with solid-cystic component. The solid component was hyperintense on T1-weighted images with significant enhancement. There was restriction in diffusion-weighted images and microhemorrhagic signal change in susceptibility weighted images. MR perfusion revealed increased relative cerebral blood volume and mean transit time values. Surgical pathology was reported as ES.Intracranial ES/pPNET is a rare tumor that generally arises from the meninges. It must be distinguished from meningioma since it can be mistaken radiologically, because the treatment and prognosis are quite different. Localization and conventional MR signal characteristics of both lesions are similar. Whereas, MR perfusion findings may be helpful in discrimination.

Background Malignant neuroectodermal tumor of infancy is a rare neural crest cell-derived neoplasm of infants. Histologically, melanotic neuroectodermal tumor of infancy usually consists of 2 types of cells: neuroblast-like and melanocyte-like cells. Here we present a rare case of melanotic neuroectodermal tumor of infancy containing a third type of cell population, that is, rhabdomyoblasts in addition to the above two. Case Description We report a case of a 10-month-old female child who was brought to us with complaints of swelling over the right forehead for the last 9 months, which started increasing in size rapidly 3 months before presenting to us. Noncontrast computed tomography scan showed a large well-defined extra-axial lesion in the right frontotemporal region. The child underwent an open biopsy under general anesthesia. Histopathological sections showed a malignant small round cell tumor consisting of hyperchromatic cells lying in sheets and lobules separated by fibrous septae. The patient underwent 7 cycles of neoadjuvant chemotherapy over a period of 2 months. The patient underwent right frontotemporal craniotomy and gross total excision of the lesion as a definitive surgery. Postoperatively, the patient was stable, and there was no new deficit. Histopathology revealed neuroblast-like and melanocyte-like cells with rhabdomyosarcomatous differentiation. The patient received chemotherapy in the postoperative period. The patient had recurrence of the tumor and died 8 months after the surgery. Conclusions Calvarial malignant neuroectodermal tumor of infancy with rhabdomyosarcomatous differentiation is a rare entity with no cases being reported before. Neoadjuvant chemotherapy with surgical excision can be a promising modality of treatment.

Background Esthesioneuroblastoma (ENB) is an uncommon neuroectodermal tumor that originates from the olfactory mucosa and often recurs locally. Distant metastases of ENB have been described, but there are few reports of intramedullary metastases to the spinal cord. Case Description Here we report a case of a patient presenting with a progressive paraparesis and magnetic resonance imaging findings of multiple drop metastases to thoracic and lumbar regions of the spinal cord, 17 years after diagnosis and treatment for an intracranial ENB with subsequent neck nodal metastases. The dorsal symptomatic lesion was treated with resection, radiotherapy, and adjuvant chemotherapy. The implications of spinal metastases for the clinical prognosis of this disease are discussed, with a review of the few reported cases of spinal ENB metastases in the literature. Conclusions Through the presentation of this case we hope to further contribute to a better understanding of this rare disease's prognosis.

Introduction: Primitive neuroectodermal tumor (PNET) / Ewing sarcoma of kidney are rare aggressive tumor with poor prognosis. It occurs in young adults generally in 2nd to 3rd decade of life Case Reports: We report three cases of PNET/Ewing sarcoma of kidney in patients of age 25and 35 years with complain of hematuria and abdominal pain .CT scan revealed heterogeneously enhancing lesion in kidney and we received radical nephrectomy specimen with variegated appearance on gross. Microscopic examination showed tumor with malignant cells in sheets and pseudorosettes .The diagnosis was given as PNET/ES and was confirmed with immunohistochemistry. Discussion: Renal PNET/ES is a member of Ewing sarcoma family. They are rare tumor originating from the neural crest and are more aggressive than PNET at any other site. The presence of Homer Wright rosettes is less common in extra-osseous Ewing sarcoma and their presence is a sure diagnosis of PNET/ES. The differential diagnosis for these small round cell tumor of kidney other than PNET include malignant lymphoma, renal neuroblastoma,,embryonalrhanbdomyosarcoma, wilms tumor. The immunohistochemical marker CD99 positivity is diagnostic. Other markers positive are S-100, vimentin and NSE (neuron specific enolase). Conclusion: Histopathology and immunohistochemistry remains gold standard for confirming the diagnosis. Keywords: Ewing sarcoma (ES) / kidney/, Primitive neuroectodermal tumor, (PNET).

Primary rhabdomyosarcoma (RMS) of the adult prostate is a very rare tumor with only 45 cases published to date. The clinical course of RMS of the prostate is very aggressive, and prognosis is very poor. Here we describe two cases of primary RMS of the prostate of adult patients and discuss the differential diagnosis of RMS with other mesenchymal tumors of prostate. The first patient was a 50-year-old man who clinically presented with urinary retention and hematuria, low serum prostate-specific antigen, moderate prostatomegaly, and multiple metastases as shown by computed tomography. Histological examination revealed a diffuse "small round blue cell" proliferation with an intermingled population of larger cells with rhabdomyoblastic differentiation that showed immunoreactivity for desmin and MYF4 (myogenin). Molecular and cytogenetic studies did not reveal recurrent chromosomal translocations associated with RMSs and other sarcomas. The patient underwent doxorubicin (adriamycin) treatment without disease progression during the whole follow-up period of 7 months. The second patient was a 39-year-old man who presented with urinary retention, an increased serum prostate-specific antigen level, extensive prostatomegaly, enlarged abdominal and inguinal lymph nodes, and skeletal metastases. Histological examination revealed a tumoral proliferation with a small round blue aspect and diffuse immunoreactivity for desmin and MYF4 (myogenin). Fluorescence in situ hybridization revealed a FOXO1 translocation, consistent with a diagnosis of alveolar-type RMS. The patient followed a multimodal treatment and died of the disease after its progression.