Primary primitive neuroectodermal tumor of the adrenal gland: A unique tumor at an unusual site

Ewing sarcoma/Primitive Neuroectodermal Tumor (ES/PNET) is a malignant small round blue cell tumor of neuroectodermal origin that affects bones and soft tissue in children and young adults. ES/PNET is very uncommon in parenchymal organs. We report a case of primary adrenal PNET in a young female having pregnancy induced persistent hypertension. She underwent right adrenalectomy for a large adrenal mass. On histopathology, it was typical malignant round cell tumor (MRCT). Immunohistochemistry confirmed the diagnosis of ES/PNET with expression of CD99, FLI-1 and NKX2.2. Until now, only 38 cases of primary adrenal ES/PNET have been reported in the English literature with just 5 cases from India. Adrenal ES/PNET can be mistaken with other MRCTs like Non-Hodgkin lymphoma and neuroblastoma. Since the biology, treatment and prognosis of these tumors is entirely different, we emphasize that pathologists must be aware of this possibility and try to differentiate them using ancillary techniques.

A RARE CASE OF NEUROFIBROMATOSIS WITH SQUAMOUS CELL CARCINOMA OF EPIGLOTTIS

INTRODUCTION: The neurofibroma is a nonmalignant new growth of neuroectodermal origin. neurofibromas appear at the end of a nerve, often in the skin, producing small nonencapsulated nodules which may have pigmentation in the overlying skin. Neurofibromatosis with laryngeal involvement presents with dyspnea, followed by hoarseness, stridor, dysphagia, and voice change. most common sites involved in the larynx are the arytenoids and the aryepiglottic folds. CASE REPORT: 65-year-old female with previously diagnosed of neurofibromatosis since 10 years of age manifested by multiple cutaneous nodules The patient had symptoms of dysphagia, hoarseness of voice for past 2 months. Direct laryngeal examination using flexible endoscope showed a edematousulceroproliferative growth in the laryngeal surface of epiglottis and fullness in the left pyriform fossa. Hisopathological examination revealed squamous cell carcinoma from epiglottis and fibromatosis changes from pyriform fossa. CONCLUSION: All neurofibromatosis patient and their family members should under go regular oral and laryngeal examination to rule out complications at the earliest.

A solitary giant neurofibroma of inguinal region: A case report

Neurofibroma is a rare nerve sheath tumor of neuroectodermal origin, especially the huge and isolated neurofibroma located in the inguinal region. To our knowledge, no such case has previously been reported. We report a case of 34-year-old male patient with a 4-year history of progressive enlargement of the medial root mass in his left thigh with sitting and standing disorders along with pain. The tumor was completely removed by operation, and pathological diagnosis showed neurofibroma. There was no obvious neurologic defect after surgery, and no recurrence tendency was found in the follow-up of 2 years. For a large solitary mass with slow growth and no malignant clinical manifestations for a long time, clinicians cannot rule out the hypothetical diagnosis of neurofibroma, even though its growth site is very rare, such as this case of a huge tumor located in the groin. For neurogenic tumors, early operation should be performed, and the prognosis of patients after tumor resection is excellent.

The «nanoscalpel» for microsurgery of glial brain tumours

Glial tumours are among the most common primary brain tumours of neuroectodermal origin characterised by infiltrative growth and widespread invasion of tumour cells into healthy tissue. A highly demanded method for therapy of such tumours may become magnetomechanical microsurgery substituting the scalpel with the «nanoscalpel» consisting of: (1) nanostructures converting the magnetic moment into the mechanical one, and (2) targeted ligands. Suitable structures for the nanoscalpel are magnetic disks with a high degree of saturation magnetisation and absent remanent magnetisation. The search for publications dated 1992-2021 was carried out in the PubMed and e-LIBRARY databases. The search keywords were «magnetic discs», «glial tumors», «microsurgery» and «magnetomechanical transduction». This review discusses biological effects of magnetic disks, their mechanism of action and toxicity. It has been concluded that a «nanoscalpel» remotely controlled using a magnetic field may become an effective and safe tool for microsurgery of glial brain tumours.

ETMR-02. NOVEL CIC-LEUTX FUSION IN CNS EMBRYONAL TUMOR: A CASE REPORT AND REVIEW OF THE LITERATURE

INTRODUCTION Central nervous system (CNS) embryonal tumor is a group of rare, poorly differentiated neuroepithelial malignant neoplasm predominantly occurs in pediatrics. Herein, we firstly report a CNS embryonal tumor harboring pathogenic CIC-LEUTX fusion. METHODS Immunohistochemistry (IHC), Fluorescence in Situ Hybridization (FISH) and Next Generation sequencing (NGS). RESULTS A 2-year-old male was found to have solid and cystic mass in left temporal lobe-basal ganglia and left parietal lobe (maximum diameter=75mm). The pathological diagnosis was CNS embryonal tumor (NEC) after totally resection. The tumor was poorly differentiated embryonal neoplasms of neuroectodermal origin that lacked the specific features and rosettes. IHC showed Syn was strongly/diffusely positive and Ki67 proliferation index was high (50%+), and copy number at the 19q13.42 C19MC locus showed no alterations. NGS showed pathogenic mutations including a brand new CIC-LEUTX fusion, heterozygous germline NBN c.C127T mutation and somatic TSC2 c.G2714A mutation. One month after operation, intracranial tumor recurred (maximum diameter=55mm) and spinal cord implantation metastasis occurred, and then the patient received chemotherapy (CTX+CBP+VCR/DDP+VP-16) and had significant improvement in symptoms and tumor shrinkage (maximum diameter=31mm). Literature review revealed CIC fusion predominantly presented in sarcomas, such as CIC-NUTM1 fusion in rare CNS sarcoma, CIC-LEUTX fusion in epithelioid angiosarcoma and CIC-DUX4 fusion in Ewing-like sarcoma. Hitherto, apart from this case, there were only two cases which had CIC-LEUTX fusion in CNS, including a case of CNS angiosarcoma and a case of anaplastic ganglioglioma. CONCLUSIONS We firstly found a specific new type in CNS embryonal tumor with distinct molecular-pathological characteristics of CIC-LEUTX fusion.

A Solitary Giant Neurofibroma of Inguinal Region——A Case Report

BackgroundNeurofibroma is a rare nerve sheath tumor of neuroectodermal origin, especially the huge and isolated neurofibroma located in the inguinal region. To our knowledge, no such case has previously been reported.Case presentationWe report a case of 34-year-old male patient with a 4-year history of progressive enlargement of the medial root mass in his left thigh with sitting and standing disorders along with pain. The tumor was completely removed by operation, and pathological diagnosis showed neurofibroma. There was no obvious neurologic defect after surgery, and no recurrence tendency was found in the follow-up of 2 years.ConclusionsFor a large solitary mass with slow growth and no malignant clinical manifestations for a long time, clinicians can not rule out the hypothetical diagnosis of neurofibroma, even though its growth site is very rare, such as this case of a huge tumor located in the groin. For neurogenic tumors, early operation should be performed, and the prognosis of patients after tumor resection is excellent.

Metastatic Biphasic Primitive Tumor in the Mandible of a Child

Pediatric mandibular tumors present an aggressive biological behavior and difficult diagnosis. A wide range of odontogenic and nonodontogenic tumors comprise the spectrum of these lesions. We report a case of a 1-year-old male child patient showing facial asymmetry symptomatic of an expansive lesion extending throughout the body and ramus of the left hemimandible with a diameter of 8 cm. The histopathological report suggested a high-grade mucoepidermoid carcinoma (MEC), recommending further immunohistochemical investigation of the ectomesenchymal or neuroectodermal origin of the tumor cells. The patient evolved with extensive bilateral pleural effusion followed by metastasis in the middle third of the right humerus, and died 2 months after the first biopsy procedure by acute renal failure with tubular necrosis, before a final inconclusive immunohistochemical report was reached. The lack of resources for less-favored regions of Brazil impairs rapid biomolecular examinations such as immunohistochemical resulting in delay of appropriate therapeutic procedures.

Extra-skeletal Ewing’s sarcoma of the frontal sinus: a rare disorder in pediatric age

Paediatric sinonasal tumours comprise numerous aetiologies. Ewing’s sarcoma (ES) consists of a malignancy of neuroectodermal origin. This type of sarcoma affects mainly children and adolescents and can assume the skeletal or extra-skeletal form. Primary ES of head and neck is extremely rare, accounting for only 4%–9% of all cases. So far, as much as we know, only a few cases of sinonasal ES have been reported in literature. The authors present a case of a previous healthy 12-year-old girl who presented with a rapidly growing and expansive frontal mass and unilateral nasal obstruction. Immunohistochemical, molecular and cytogenetic analysis of the lesion showed diffuse expression of CD56 and CD99 on tumour cells and a translocation involving chromosome 22q12, confirming ES diagnosis.

O-acetylated Gangliosides as Targets for Cancer Immunotherapy

O-acetylation of sialic acid residues is one of the main modifications of gangliosides, and modulates ganglioside functions. O-acetylation of gangliosides is dependent on sialyl-O-acetyltransferases and sialyl-O-acetyl-esterase activities. CAS1 Domain-Containing Protein 1 (CASD1) is the only human sialyl-O-acetyltransferases (SOAT) described until now. O-acetylated ganglioside species are mainly expressed during embryonic development and in the central nervous system in healthy adults, but are re-expressed during cancer development and are considered as markers of cancers of neuroectodermal origin. However, the specific biological roles of O-acetylated gangliosides in developing and malignant tissues have not been extensively studied, mostly because of the requirement of specific approaches and tools for sample preparation and analysis. In this review, we summarize our current knowledge of ganglioside biosynthesis and expression in normal and pathological conditions, of ganglioside O-acetylation analysis and expression in cancers, and of the possible use of O-acetylated gangliosides as targets for cancer immunotherapy.