Primary intracranial peripheral primitive neuroectodermal tumor in an adult patient with aphasia: a rare case report

Primary intracranial primitive neuroectodermal tumors (PNETs) are extremely rare malignancies, affects children and adolescents with only 10 cases has been reported over 33 years old. we present a case of PNET in a 36 years old female patient with the chief complaint of aphasia for the first time

Snoring as main symptoms of peripheral primitive neuroectodermal tumor in oropharynx:a case report with review of literature

IntroductionIn children, snoring is often associated with hypertrophied tonsils and adenoids. There was a case in a girl who did not suffer from hypertrophy adenoids, but from a peripheral primitive neuroectodermal tumor (pPNET) in the oropharynx. pPNET often occurs in the deep soft tissues of the trunk, paravertebral, lower limbs and retroperitoneum. It is rarely located in children's oropharynx and makes snoring.Patient concernsWe report a case of a 4-years-old girl who complained of slurred speech and snoring. Her serum showed normal results, computed tomography (CT) and magnetic resonance imaging (MRI) revealed a mass lesion in oropharynx. By using histology and immunohistochemistry, cluster of differentiation 99 (CD99), vimentin, friend leukemia integration 1 (FLI-1), integrase interactor-1 and α-smooth muscle actin were positive, but epithelial membrane antigen, erythroblast transformation-specific (ETS) related gene (ERG), NK homeobox 2.2, Wilms’ tumor 1 and S100-protein were negative. And the rearrangement of the Ewing sarcoma breakpoint region 1 (EWSR1) gene was proved in the test of fluorescent.DiagnosisShe was diagnosed as a peripheral primitive neuroectodermal tumor.Interventions and outcomeThe girl had been treated with surgery and chemotherapy. She has been well for 24 months without any signs of disease.ConclusionIn children who snore, we should not only think of hypertrophied adenoids, but also the possibility of pPNETs in oropharynx. CT scan or MRI should be conducted in time, as well as histology and immunohistochemistry to avoid misdiagnosis.

Anti-PD-1 Immunotherapy Combined With Antiangiogenic Therapy as Salvage Therapy in a Patient With Refractory Metastatic Peripheral Primitive Neuroectodermal Tumor: A Case Report and Literature Review

Background: Peripheral primitive neuroectodermal tumor (pPNET) is a relatively rare malignant neoplasm that usually occurs in children and young adults,associated with poor prognosis. However, standard treatment for refractory pPNET has not been determined.Case presentation: A case of a 38-year-old woman with pPNET on the right shoulder and back,she had gained up to seven-and-a-half years suvival undergoing these comprehensive treatment including surgery, radiotherapy, chemotherapy, antiangiogenic treatment. However, the tumor eventually progressed after receiving multiline treatment.With the patient's strong desire to receive immunotherapy, we finally adjusted the treatment plan to " anti-angiogenic tyrosine kinase inhibitor Lenvatinib combined with PD-1 inhibitor Toripalimab" for 2 cycles.Unfortunately,she developed grade 2-3 immune pneumonia after treatment.Conclusions: To our knowledge, this is the first report of immunotherapy combined with antiangiogenic therapy in pPNET,which provides new ideas for the treatment of refractory pPNET.

COMPUTER TOMOGRAPHY AND X-RAY DIAGNOSTICS OF PERIPHERAL PRIMITIVE NEUROEECTODERMAL TUMORS (PNET) IN CHILDREN

Relevance: Peripheral primitive neuroectodermal tumor (PNET) belongs to the group of malignant tumors that develop from migrating embryonic neural crest cells. PNET includes a number of nosological forms: Askin's tumor, esthesioneuroblastoma, the very peripheral primitive neuroectodermal tumor, Ewing's sarcoma . PNET accounts for 3–9% of all soft tissue tumors in children and 19% of all soft tissue sarcomas. In European countries and the United States, the frequency of their occurrence is 3.4 cases per year per 1 million children under 15 years of age, in Kazakhstan - 0.6-1.2 cases per 1 million child population. Rapid tumor growth, malignancy and early metastasis to other organs and systems predetermines its special role in oncology. Objective of the study: to improve the quality and availability of early diagnosis of sarcomas in children in medical institutions of the general medical network. Results of the study: 35 cases of peripheral PNET in children were analyzed. The age of the patients is from 1.5 to 17 years. The average age is 9.3 years. There were 1.3 times more boys among patients than girls. Extra-skeletal localization was found in one patient (3.6%). Radiographically, it is often almost impossible to make a differential diagnosis between the manifestations of Ewing's sarcoma and primary chronic or "healed" (antibiotic) forms of acute hematogenous osteomyelitis in the initial phase of the process, before the formation of the extraosseous soft tissue component. The process of bone damage is more often localized in its diaphysis and subsequently spreads to the metaphyses of the bone.

Radiation diagnostics of peripheral primitive neuroectodermal tumors (PNET) in children at the Scientific Center of Pediatrics and Pediatric Surgery (Almaty, Kazakhstan)

Relevance: Peripheral primitive neuroectodermal tumor (primitive neuroectodermal tumor – PNET) belongs to the group of malignant tumors that develop from migrating embryonic neural crest cells. PNET includes several nosological forms: Askin’s tumor, esthesioneuroblastoma, the very peripheral primitive neuroectodermal tumor, and Ewing’s sarcoma. PNET accounts for 3–9% of all soft tissue tumors and 19% of all soft tissue sarcomas in children. In Europe and the US, PNETs account for 3.4 cases per year per 1 million children below 15 years; in Kazakhstan – 0.6-1.2 cases per 1 million child population. Rapid tumor growth, malignancy, and early metastasis to other organs and systems predetermine the PNET’s specific role in oncology. The purpose of the study was to improve the quality and availability of early sarcoma diagnostics in children at medical institutions of the general medical network. Results: 35 cases of peripheral PNET in children were analyzed. The age of the patients was 1.5 to 17 years, the average age – 9.3 years. Boys were 1.3 times more than girls. One patient (3.6%) had extra-skeletal tumor localization. Children with stage IIB prevailed – 46.4% of cases (13 children). Radiographical differentiation between Ewing’s sarcoma and primary chronic or “healed” (antibiotic) acute hematogenous osteomyelitis in the initial phase of the process is almost impossible before the extraosseous soft tissue component is formed. The bone damage process is more often localized in the bone diaphysis and subsequently spreads to its metaphyses. Conclusion: PNET is more likely to come from the chest wall, so it is advisable to start the X-ray examination from the chest. In terms of radiation semiotics, PNET is similar to Ewing’s sarcoma and Askin’s tumor; therefore, an additional immunohistochemical study of the tumor tissue is required. An important indirect diagnostic criterion in Ewing’s sarcoma is the predominance of the soft tissue component over the bone manifestations. Extended CT and MRI studies with contrast enhancement (chest, abdominal cavity, pelvis, and the primary lesion area) and skeletal scintigraphy are required to clarify the extent of changes, stage the tumor accurately, and assess the tumor dynamics after treatment. The above conclusions generally confirm the available literature data.