scholarly journals Low-Grade Sinonasal Sarcoma With Neural and Myogenic Features: A Recently Discovered Entity With Unique Features and Diagnostic Challenge

2017 ◽  
Vol 141 (5) ◽  
pp. 718-721 ◽  
Author(s):  
Meriam Triki ◽  
Lobna Ayadi
Keyword(s):  
Smooth Muscle Actin ◽  
S100 Protein ◽  
World Health ◽  
Low Grade ◽  
Diagnostic Challenge ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Neck Tumors ◽  
Malignant Lesions ◽  
Health Organization

Low-grade sinonasal sarcoma with neural and myogenic features is an entity recently described in the literature. Little is known about its etiopathogenesis, natural history, or optimal treatment. In fact, it has relatively unique findings: it has a distinctive cytogenetic signature, and it expresses both smooth muscle actin and S100 protein. However, its diagnosis is challenging on biopsies showing negative staining for these 2 markers. The differential diagnoses include fibrosarcoma, malignant peripheral nerve sheath tumors, and other benign and malignant lesions. A complete resection, with or without radiotherapy, is required because this lesion appears to be locally aggressive. However, the clinical outcome seems to be good. Low-grade sinonasal sarcoma with neural and myogenic features merits classification as an independent tumor in the next World Health Organization classification of head and neck tumors. Reports of additional cases are required to support its unique classification.

scholarly journals Morphological spectrum of peripheral nerve sheath tumors: An insight into World Health Organization 2013 classification

2016 ◽  
Vol 07 (03) ◽  
pp. 346-354 ◽  
Author(s):  
Panduranga Chikkannaiah ◽  
Mythri M. Boovalli ◽  
Velusamy Nathiyal ◽  
Srinivasamurthy Venkataramappa
Keyword(s):  
Peripheral Nerve ◽  
Granular Cell Tumor ◽  
Malignant Tumors ◽  
Granular Cell ◽  
Cell Tumor ◽  
World Health ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath ◽  
Health Organization

ABSTRACT Introduction: Peripheral nerve sheath tumors (PNSTs) are neuroectodermal in origin. Now these tumors are classified under World Health Organization (WHO) classification of tumors of soft tissue and bone 2013. Objective: To study the morphological spectrum of PNST and to study the secondary degenerative changes associated with it. Materials and Methods: This study was conducted from January 2010 to June 2015. The gross details of tumor and patient's demographic profiles were reviewed. The hematoxylin and eosin stained slides were reassessed and the lesions were categorized and classified as per the WHO 2013 classification. The tumors were also assessed for secondary degenerative changes. Results: Our study comprised 143 cases of PNST. Age of the patients ranged from 5 to 75 years. 21–30 years is the most common age of occurrence with head and neck being the most common site. The PNSTs observed in the present study were neurofibroma (NF) (61.5%), schwannoma (36%), malignant PNST (2%), and granular cell tumor (0.5%). Nearly 10% of NF fulfilled the criteria for neurofibromatosis 1 (NF1). Rare tumors such as plexiform schwannoma and granular cell tumor were also observed. Malignant tumors were larger in dimension than benign. Myxoid, cystic, and hyaline changes were commonly associated with benign tumors while necrosis, hemorrhage, and mitotic activity were seen with malignant tumors. Conclusion: This series highlights the pathological variants of PNST along with their morphological changes and NF1 association. It is essential to be familiar with all these variants of PNST for accurate diagnosis as they have varied biological behavior.

Tyrosinase Expression in Malignant Melanoma, Desmoplastic Melanoma, and Peripheral Nerve Tumors

2002 ◽  
Vol 126 (7) ◽  
pp. 816-822 ◽  
Author(s):  
Jenny L. Boyle ◽  
Helen M. Haupt ◽  
Jere B. Stern ◽  
Hinke A. B. Multhaupt
Keyword(s):  
Peripheral Nerve ◽  
S100 Protein ◽  
Dermatofibrosarcoma Protuberans ◽  
Antigen Retrieval ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Desmoplastic Melanoma ◽  
Nerve Sheath ◽  
Tyrosinase Expression ◽  
Hmb 45

Abstract Context.—Pathologists may encounter problems in the differential diagnosis of malignant melanoma, spindle and epithelioid neoplasms of peripheral nerves, and fibrohistiocytic tumors. Tyrosinase has been demonstrated to be a sensitive marker for melanoma. Objective.—To determine the specificity of tyrosinase expression in the differential diagnosis of melanoma, desmoplastic melanoma, and peripheral nerve sheath tumors. Design.—Immunoreactivity for tyrosinase, HMB-45 (anti-gp100 protein), S100 protein, CD34, and vimentin was studied in 70 tumors, including 15 melanomas (5 desmoplastic, 4 amelanotic, 6 melanotic), 13 malignant peripheral nerve sheath tumors; 10 schwannomas (1 pigmented), 12 neurofibromas (4 pigmented), and 20 fibrohistiocytic tumors (10 dermatofibrosarcoma protuberans and 10 dermatofibromas). Microwave-based antigen retrieval was performed in 10mM citrate buffer, pH 6.0, for 20 minutes at 121°C. Results.—All melanomas demonstrated positive immunostaining for tyrosinase, HMB-45, and S100 protein. Immunoreactivity for HMB-45 was generally stronger than that for tyrosinase in amelanotic lesions and significantly stronger in 1 of the desmoplastic lesions. The 4 pigmented neurofibromas were focally positive for tyrosinase, but did not stain for HMB-45. The pigmented schwannoma was focally positive for both tyrosinase and HMB-45. The malignant peripheral nerve sheath tumors, dermatofibrosarcoma protuberans, and dermatofibromas were nonreactive for tyrosinase and HMB-45. Conclusions.—Our results support the sensitivity of tyrosinase expression and demonstrate the relative specificity of tyrosinase as a marker for melanocytic lesions, including desmoplastic melanoma, although pigmented peripheral nerve tumors may demonstrate focal positive staining. Immunoreactivity for tyrosinase and HMB-45 may have been enhanced by the microwave-based antigen-retrieval technique used in this study.

scholarly journals Genetic Abnormalities, Clonal Evolution, and Cancer Stem Cells of Brain Tumors

2018 ◽  
Vol 6 (4) ◽  
pp. 85 ◽  
Author(s):  
Ugo Testa ◽  
Germana Castelli ◽  
Elvira Pelosi
Keyword(s):  
Brain Tumors ◽  
Clonal Evolution ◽  
Pediatric Brain Tumors ◽  
Genetic Alterations ◽  
World Health ◽  
Driver Mutations ◽  
Low Grade ◽  
High Grade ◽  
Genetic Profiling ◽  
Health Organization

Brain tumors are highly heterogeneous and have been classified by the World Health Organization in various histological and molecular subtypes. Gliomas have been classified as ranging from low-grade astrocytomas and oligodendrogliomas to high-grade astrocytomas or glioblastomas. These tumors are characterized by a peculiar pattern of genetic alterations. Pediatric high-grade gliomas are histologically indistinguishable from adult glioblastomas, but they are considered distinct from adult glioblastomas because they possess a different spectrum of driver mutations (genes encoding histones H3.3 and H3.1). Medulloblastomas, the most frequent pediatric brain tumors, are considered to be of embryonic derivation and are currently subdivided into distinct subgroups depending on histological features and genetic profiling. There is emerging evidence that brain tumors are maintained by a special neural or glial stem cell-like population that self-renews and gives rise to differentiated progeny. In many instances, the prognosis of the majority of brain tumors remains negative and there is hope that the new acquisition of information on the molecular and cellular bases of these tumors will be translated in the development of new, more active treatments.

scholarly journals Analysis of mutation and promoter methylation of TP53 gene in tumors of the head and neck

2016 ◽  
Vol 29 (2) ◽  
pp. 53-56
Author(s):  
Adrian Jarzynski ◽  
Katarzyna Papiernik ◽  
Malgorzata Polz-Dacewicz
Keyword(s):  
Head And Neck ◽  
P53 Protein ◽  
Gene Promoter ◽  
Tp53 Gene ◽  
World Health ◽  
Sample Population ◽  
Neck Tumors ◽  
Health Organization ◽  
The Guardian ◽  
In Cells

Abstract According to current World Health Organization data, worldwide, cancer is second to cardiovascular diseases as the leading cause of death. The p53 protein is a translation product of the TP53 gene, and it has many functions in cells. Indeed, for this, it is commonly called the “guardian of the genome”. The aim of this study was to evaluate the prevalence of mutation and methylation in the promoter of the TP53 gene in cells affected with squamous cell carcinoma of the head and neck. The research material consisted of 34 DNA samples isolated from surgically removed tissue fragments of head and neck tumors. In this work, analysis of all samples for the presence of mutations proved negative. This result simultaneously revealed an absence of mutation in the TP53 gene promoter in the analyzed material. However, the detection of changes in the methylation profile status of the promoter of the TP53 gene in the DNA samples revealed the presence of both methylated alleles in 76.5% of the sample population, while in the remaining 23.5%, methylation was present in only one allele of the studied gene. In our work, we assumed that samples displaying methylation involving two alleles will show greater predisposition to the development of a malignant tumor. The obtained results reveal that despite the lack of mutation in the TP53 gene promoter, its functioning may be impaired by other mechanisms – either epigenetic or environmental.

scholarly journals Well-Differentiated Liposarcoma of The Larynx: A Case Report and Review of Literature

2016 ◽  
Vol 9 (1) ◽  
pp. 85-89
Author(s):  
Svetlana A. Mateva ◽  
Margarita R. Nikolova ◽  
Alexandar V. Valkov ◽  
Margarita R. Nikolova
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Soft Tissue Sarcomas ◽  
World Health ◽  
Low Grade ◽  
Review Of Literature ◽  
Grade Malignancy ◽  
Well Differentiated ◽  
Health Organization ◽  
Histologic Types

Summary Liposarcoma is one of the most common soft tissue sarcomas in adults with a relative incidence amongst other sarcomas ranging from 9.8% to 16%. It usually locates in the limbs and retroperitoneum. Primary liposarcomas of the larynx and hypopharynx are rare, comprising less than 20% of all head and neck liposarcomas. According to World Health Organization, these tumors are divided into four histologic types, and well-differentiated liposarcoma is the most common one. It is a tumor of low-grade malignancy that may recur locally, but does not metastasize. We present a case of laryngopharyngeal well- differentiated liposarcoma in an old patient with two previous removals. We also discuss recently published cases with this unusual location of liposarcoma.

miR-9-1 Is a New Circulating Biomarker for Higher-grade Meningioma Regulated via the EGFR-FOS Network

2020 ◽  
Author(s):  
Daniele Baiz ◽  
Caterina Negroni ◽  
Sara Ferluga ◽  
Emanuela Ercolano ◽  
Claire L Adams ◽  
...  
Keyword(s):  
Tumor Grade ◽  
World Health ◽  
Tumor Growth Rate ◽  
Low Grade ◽  
Serum Samples ◽  
Circulating Biomarker ◽  
Mirna Array ◽  
Malignant Grade ◽  
Health Organization

Abstract Background: Meningiomas are the most common primary CNS tumors. According to the World Health Organization Classification (WHO), they are classified as benign (grade I), atypical (grade II), and anaplastic/malignant (grade III). Chemotherapy has proven ineffective in treating these tumors, which are primarily managed by surgery, radiotherapy, or a combination of them. Morbidity and mortality correlate with meningioma grade. Currently, risk assessment for treatment is based on the radiological assessment of tumor size, tumor growth rate, and/or clinical progression of symptoms. Methods: We performed a cancer miRNA array in an in vitro model of meningioma in order to identify circulating biomarkers in meningioma patients. We validated the miRNA biomarker candidate in cells and tissues and analyzed its regulation. We then investigated expression in tissues and blood. Results: We identified miR-9-1 as significantly overexpressed in atypical and anaplastic cells compared to benign. We further demonstrated that miR-9-1 overexpression is due to increased levels of FOS via upregulation of the EGFR receptor, and showed that miR-9-1 and FOS are upregulated in a cohort of higher-grade meningioma biopsies. Next, we isolated circulating exosomes from meningioma patients’ serum samples, and found higher levels of miR-9-1 in higher-grade compared to low-grade meningiomas patients. Conclusions: Overall, our study shows overexpression and the mechanism of miR-9-1 regulation and suggests miR-9-1 as a novel circulating biomarker candidate to identify tumor grade in meningioma.

Management for Different Glioma Subtypes: Are All Low-Grade Gliomas Created Equal?

2019 ◽  
pp. 133-145 ◽  
Author(s):  
Martin C. Tom ◽  
Daniel P. Cahill ◽  
Jan C. Buckner ◽  
Jörg Dietrich ◽  
Michael W. Parsons ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
World Health ◽  
Low Grade ◽  
Lower Grade ◽  
Future Directions ◽  
Molecular Alterations ◽  
Lower Grade Glioma ◽  
Grade 3 ◽  
Health Organization

Following the identification of key molecular alterations that provided superior prognostication and led to the updated 2016 World Health Organization (WHO) Central Nervous System (CNS) Tumor Classification, the understanding of glioma behavior has rapidly evolved. Mutations in isocitrate dehydrogenase (IDH) 1 and 2 are present in the majority of adult grade 2 and 3 gliomas, and when used in conjunction with 1p/19q codeletion for classification, the prognostic distinction between grade 2 versus grade 3 is diminished. As such, the previously often used term of “low-grade glioma,” which referred to grade 2 gliomas, has now been replaced by the phrase “lower-grade glioma” to encompass both grade 2 and 3 tumors. Additional molecular characterization is ongoing to even further classify this heterogeneous group of tumors. With such a colossal shift in the understanding of lower-grade gliomas, management of disease is being redefined in the setting of emerging molecular-genetic biomarkers. In this article, we review recent progress and future directions regarding the surgical, radiotherapeutic, chemotherapeutic, and long-term management of adult lower-grade gliomas.

scholarly journals Succinate Dehydrogenase–Deficient Renal Cell Carcinoma

2018 ◽  
Vol 143 (5) ◽  
pp. 643-647 ◽  
Author(s):  
Tsung-Heng Tsai ◽  
Wen-Ying Lee
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Succinate Dehydrogenase ◽  
Renal Cell ◽  
World Health ◽  
Low Grade ◽  
Long Term Follow Up ◽  
Health Organization

Succinate dehydrogenase (SDH)–deficient renal cell carcinoma is a recently recognized distinct subtype of renal cell carcinoma in the 2016 World Health Organization classification. It is associated with SDH gene germline mutations, which also cause paraganglioma/pheochromocytoma, gastrointestinal stromal tumor, and pituitary adenoma. The tumor most commonly presents in young adulthood. The tumors are arranged in solid nests or in tubules and frequently show cystic change. The tumors are composed of cuboidal to oval cells with round nuclei, dispersed chromatin, and inconspicuous nucleoli. The cytoplasm is eosinophilic or flocculent but not truly oncocytic. The most distinctive histologic feature is the presence of cytoplasmic vacuoles or inclusions. Loss of SDH subunit B immunostaining is needed for a definite diagnosis. The prognosis is good for low-grade tumors but worse for tumors with high-grade nuclei, sarcomatoid change, or coagulative necrosis. Long-term follow-up is indicated.

Accuracy of Intraoperative Examination in Central Nervous System Lesions: A Study of 133 Cases

2019 ◽  
Vol 63 (3) ◽  
pp. 224-232
Author(s):  
Ludmila Barbosa de Souza Balsimelli ◽  
Jamille Costa de Oliveira ◽  
Flora Ávila Adorno ◽  
Clarissa Almeida Brites ◽  
Giuliano Stefanello Bublitz ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Frozen Section ◽  
Final Diagnosis ◽  
World Health ◽  
Histopathological Diagnosis ◽  
Low Grade ◽  
Predictive Values ◽  
Health Organization ◽  
Cns Lesions

Objective: Intraoperative examination is a highly valuable tool for the evaluation of central nervous system (CNS) lesions, helping the neurosurgeon to determine the best surgical management. This study aimed to evaluate the accuracy and to analyze the diagnostic disagreements and pitfalls of the intraoperative examinations through correlation with the final histopathological diagnosis in CNS lesions. Study Design: Retrospective analysis of intraoperative examination of CNS lesions and their final diagnosis obtained during 16 consecutive years. All diagnoses were reviewed and classified according to World Health Organization (WHO) grading for CNS tumors. Squash was performed in 119 cases, while frozen section and both methods were done in 7 cases each. Results: Among the 133 intraoperative examinations considered, 114 (85.7%) presented concordance and 19 (14.3%) diagnostic disagreement when compared with subsequent histopathological examinations. The sensitivity and specificity for the detection of neoplasia in intraoperative examination was 98 and 94%, respectively. The positive and negative predictive values were 99 and 88%, respectively. The accuracy for neoplastic and nonneoplastic disease was 85.7%. Disagreements were more frequent among low-grade (WHO grades I and II) neoplasms and nonmalignant cases. Conclusions: Our results showed good accuracy of the intraoperative assessments for diagnosis of CNS lesions, particularly in high-grade (grades III and IV) lesions and metastatic neoplasms.

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