Neuroblastoma olfatorio. todo lo que el radiólogo debe saber / Olfactory Neuroblastoma. everything the Radiologist Should Know

Resumen El neuroblastoma olfatorio (NBO) es un tumor maligno poco frecuente que se origina de las células neuroepiteliales olfativas. Su diagnóstico precoz es difícil debido a la poca especificidad de los síntomas que presentan los pacientes. Las pruebas de imagen juegan un papel importante en su diagnóstico y en la planificación quirúrgica, por lo que es importante que los radiólogos conozcan sus hallazgos y las diferentes clasificaciones que ayudarán a elegir el tratamiento más adecuado para cada tumor.

Abstract Olfactory neuroblastoma (ONB) is a rare malignant tumor that originates from olfactory neuroepithelial cells. Its early diagnosis is difficult due to the low specificity of the symptoms. Imaging tests play an important role in its diagnosis and surgical planning so it is important that radiologists know their findings and the different classifications that will help to choose the most appropriate treatment for each tumor.

Integrated Multi-omic Analysis of Esthesioneuroblastomas Identifies Two Subgroups Linked to Cell Ontogeny.

Esthesioneuroblastoma (ENB) is a rare cancer of the olfactory mucosa, with no established molecular stratification to date. We report similarities of ENB with tumors arising in the neural crest and perform integrative analysis of these tumors. We propose a molecular-based subtype classification of ENB as basal or neural, both of which have distinct pathological, transcriptomic, proteomic, and immune features. Among the basal subtype, we uncovered an IDH2 R172 mutant-enriched subgroup (∼35%) harboring a CpG island methylator phenotype reminiscent of IDH2 mutant gliomas. Compared with the basal ENB methylome, the neural ENB methylome shows genome-wide reprogramming with loss of DNA methylation at the enhancers of axonal guidance genes. Our study reveals insights into the molecular pathogenesis of ENB and provides classification information of potential therapeutic relevance.

The Differential Diagnosis of Sinonasal/Nasopharyngeal Neuroendocrine/Neuroectodermally Derived Tumors.

CONTEXT: The differential diagnosis of neuroendocrine neoplasms arising in the sinonasal tract is broad and includes lesions of epithelial, mesenchymal, and neuroectodermal origin. OBJECTIVE: To review the differential diagnosis of sinonasal neuroendocrine and neuroectodermally derived tumors. DATA SOURCES: The current literature was reviewed to provide updated information regarding the differential diagnosis and means for diagnosing neuroendocrine tumors including sinonasal neuroendocrine carcinoma, olfactory neuroblastoma, malignant melanoma, paraganglioma, pituitary adenoma, and Ewing family of tumors. CONCLUSIONS: The differential diagnosis of neoplasms with neuroendocrine differentiation in the sinonasal tract is broad, and diagnosis often includes not only histologic review but also immunohistochemical or molecular analysis.

Prognosis and biology in esthesioneuroblastoma: the emerging role of Hyams grading system.

Esthesioneuroblastoma is a sinonasal tumor with distinct clinicopathologic features, multiple facets, and a spectrum of behavior. Characterization of this disease is challenging, and clinically, several staging systems have been used with no consensus on a single scheme. Recently, the Hyams histological grading system has emerged as a promising prognostication tool that offers an added value to stage. This review addresses prognosis and biology in esthesioneuroblastoma. More specifically, we sought to present a critical appraisal on the value of each of these stratification systems, stage vs. grade, in identifying risk groups and guiding management.

Clincopathological analysis of olfactory neuroblastoma.

Olfactory neuroblastoma (ONB) is a relatively uncommon neoplasm, and its clinicopathological presentation remains unclear. In this study, we investigated the correlation of the clinicopathological presentation with the prognosis of ONB. Twelve ONBs histologically diagnosed during the past 12 years at our university were examined. The tumors were classified in accordance with Kadish clinical staging and Hyams' histological grading. For immunohistochemical analysis, the antibodies of CXCL12, CXCR4, AE1/AE3, CAM5.2, Ber-EP4, Bcl-2, and MIB-1 were used. The patients ranged in age from 19 to 82 years old, and there were five males and seven females. Eight cases had intracranial tumor progression, which equals the advanced Kadish stage (stage C). According to histological grading, five low-grade (grades 1 and 2) and seven high-grade (grades 3 and 4) cases were included. Regarding the prognosis of ONB, a relationship was demonstrated with Hyams' grading, without Kadish staging. The MIB-1 labeling indices of Hyams' high-grade group were increased significantly compared to those of the low-grade group, and the expression level of Bcl-2 was strongly correlated with Hyams' grading. Neither of the chemokines CXCL12 and CXCR4 played a critical role as a prognostic factor, nor did any of the epithelial markers, AE1/AE3, CAM5.2, and Ber-EP4.

Endoscopic-assisted excision of esthesioneuroblastoma.

The purpose of this article is to report a case of esthesioneuroblastoma involving the bilateral paranasal sinuses, which was excised using an endoscopic-assisted transfacial approach. A patient presented with nasal swelling and left-sided nasal obstruction, epistaxis, and diplopia. Examination revealed broadening of the nasal dorsum with a fleshy pink mass in both nasal cavities. Computed tomographic scan showed a mass involving the nasal cavity and paranasal sinuses on both sides. The tumor was diagnosed as group C esthesioneuroblastoma. The mass was excised by bilateral medial maxillectomy and bilateral frontoethmoidectomy. Using a 0 degrees endoscope, the attachment of the tumor to the cribriform plate was identified and resected using a motordrill. On Waroff staining, Hispathology slides suggested esthesioneuroblastoma. The patient was asymptomatic for 1 year, following which he developed infection of the nasal cavity for which he had no form of treatment. He subsequently developed maggots in the nasal cavity after which he died. An endoscopic resection of the cribriform plate from the nasal cavity without a formal craniofacial resection can be safely performed with oncologic safety.

Sperm protein 17 expression defines 2 subsets of primary esthesioneuroblastoma.

Esthesioneuroblastomas (ENBs) are rare malignant tumors of the nasal vault, the origin, diagnosis, and management of which are still subjects of discussion. That there is no related prognostic factor or generally recognized therapeutic regimen highlights the need for further analyses of its underlying biologic features and investigations of new marker proteins that allow more reliable clinical testing. We here show that sperm protein 17 (Sp17) is expressed in the ciliated cells of the normal olfactory epithelium and in a proportion of primary ENB lesions. We found an association between Sp17 expression and metastases at relapse (P = .035), chromogranin expression (P = .014), and a female sex prevalence. A statistically nonsignificant relation was found between Sp17 and S-100, synaptophysin, and neurofilament expression. No correlation was also found between Sp17 expression and the proliferative capacity of the lesion that was evaluated by Ki-67 immunohistochemistry. The results of this study show the usefulness of Sp17 as a means of discriminating 2 subsets of primary ENB lesions and seem to suggest the existence of 2 distinct cell pathways in their origin and development.

Esthesioneuroblastoma and sinonasal undifferentiated carcinoma: impact of histological grading and clinical staging on survival and prognosis.

OBJECTIVES: Hyams proposed a histological grading system for esthesioneuroblastoma in which grade I tumors have an excellent prognosis and grade IV tumors are uniformly fatal. The Hyams grading system predated advanced craniofacial techniques, extensive use of immunohistochemistry, and the recognition of sinonasal undifferentiated carcinoma (SNUC) as a distinct entity. Therefore we aimed to determine whether Hyams classification is useful in predicting outcome for esthesioneuroblastoma and SNUC. STUDY DESIGN: A retrospective review of cases from 1970 to 1999. METHODS: Twenty-six patients (12 with esthesioneuroblastoma and 14 with SNUC) were reviewed. The Kadish clinical stage was determined, and histopathological slides were reviewed and graded using the Hyams system. RESULTS: Kadish staging was available for 26 patients (2 patients with stage A tumors; 7 with stage B; and 17 with stage C). Of the 8 evaluable patients with Kadish stage A or B tumors, 6 remained disease free for more than 2 years compared with only 5 of the 17 Kadish stage C tumors. Slides were available for Hyams grading in 21 patients (2 patients with grade I tumors; 4 with grade II; 4 with grade III; and 11 with grade IV). Of the 6 patients with Hyams grade I or II tumors, 4 remained disease free for more than 2 years compared with only 4 of the 15 patients with Hyams grade III or IV tumors. Of note, three patients with Kadish stage C tumors (two with esthesioneuroblastoma, one with SNUC) and two patients with Hyams grade IV tumors (one with esthesioneuroblastoma and one with SNUC) survived for more than 5 years. CONCLUSIONS: Both the Hyams grading system and the Kadish staging system can be used as independent predictors of outcome. Although limited by small numbers, the results of this study demonstrate that patients with either advanced clinical stage or pathological grade of esthesioneuroblastoma or SNUC have poor prognosis, but that long-term survival is possible in these patients if aggressive treatment is used.

Esthesioneuroblastoma is not a member of the primitive peripheral neuroectodermal tumour-Ewing's group.

Esthesioneuroblastoma (ENB) is a rare, site-specific, locally aggressive neuronal malignancy so far thought to belong to primitive peripheral neuroectodermal tumour-Ewing's tumour (pPNETs-ETs). Its anatomical location, in addition to morphologic, immunophenotypic and ultrastructural features, suggests its origin in the neuronal or neuroendocrine cells of the olfactory epithelium. However, the cytogenetic and molecular data currently available appear controversial on the presence of the typical translocation t(11;22)(q24;q12) and of trisomy 8, chromosomal changes that characterize the tumours belonging to the pPNETs-ETs. Herein we have analysed five ENB tumour specimens for trisomy 8 by fluorescence in situ hybridization (FISH), for the presence of EWS gene rearrangements by FISH, reverse transcription polymerase chain reaction and Southern blot analyses, as well as for the expression of the Ewing sarcoma-associated MIC2 antigen by immunohistochemistry. Neither EWS/FLI-I, EWS/ERG and EWS/FEV fusion genes nor MIC2 expression were found in any tumour, whereas trisomy 8 was found in one case only. Moreover, DNA from three cases analysed by Southern blot did not show EWS gene rearrangements. Our results support the evidence that ENB is not a member of the pPNETs-ETs.