scholarly journals Ossifying Fibromyxoid Tumor: A Review With Emphasis on Recent Molecular Advances and Differential Diagnosis

2019 ◽  
Vol 143 (12) ◽  
pp. 1504-1512
Author(s):  
Cody S. Carter ◽  
Rajiv M. Patel
Keyword(s):  
Differential Diagnosis ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
S100 Protein ◽  
Data Sources ◽  
Low Grade ◽  
Diagnostic Features ◽  
Mesenchymal Neoplasm ◽  
High Index Of Suspicion ◽  
Ossifying Fibromyxoid Tumor

Context.— Ossifying fibromyxoid tumor (OFMT) is a rare, slow-growing mesenchymal neoplasm of uncertain histogenesis with intermediate malignant potential. Objective.— To highlight the most important diagnostic features, including morphologic, immunohistochemical, and molecular findings; to provide comparisons to other entities in the differential diagnosis; and to provide a summary of the clinical features and outcomes in cases reported to date. Data Sources.— The data sources include recently published literature encompassing OFMT and tumors in the histologic differential diagnosis, and cases from institutional files. Conclusions.— Ossifying fibromyxoid tumor is important to recognize because of its low-grade morphology but potential for recurrence and metastasis. Recent molecular analysis has expanded the morphologic spectrum of OFMT, with additional cases discovered that are enriched for aggressive behavior. The diagnosis can often be rendered through a combination of morphology and coexpression of S100 protein and desmin, although only a minority of cases described contain all of these primary features. In cases that do not have all of these features, a high index of suspicion guided by morphology and exclusion of other tumors in the histologic differential diagnosis can lead to the correct diagnosis. Growing access to molecular genetic testing will become increasingly important for correct diagnosis of tumors at the ends of the morphologic spectrum.

Pseudoneoplasms of the Nervous System

2010 ◽  
Vol 134 (3) ◽  
pp. 404-416
Author(s):  
Kliment Donev ◽  
Bernd W. Scheithauer
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Picture ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Data Sources ◽  
Pertinent Literature ◽  
Presenting Symptoms ◽  
Radiation Induced ◽  
Physical Findings

Abstract Context.—Pseudoneoplasms of the nervous system vary greatly in nature. Ranging from inflammatory to autoimmune, infectious, malformative, reactive, degenerative, and radiation induced, they all mimic true tumors. Thus, they have the potential to mislead clinicians, radiologists, and pathologists alike. Their clinical and/or neuroimaging and histologic features are readily misinterpreted as tumor. Knowledge of the pitfalls is essential to avoid mismanagement, specifically overtreatment. In such instances, pathologists must take the entire clinical picture into consideration, acquainting themselves with presenting symptoms, physical findings, and neuroimaging. Objective.—To present 10 examples of pseudoneoplasms of the nervous system, analyze the basis for their mimicry, and discuss their differential diagnosis. Data Sources.—Review of the pertinent literature related to pseudoneoplasms of the nervous system and review of the consultation files of one of the authors (B.W.S.). Conclusions.—The identification of tumor mimics may be difficult under the best of circumstances, and maintaining a broad differential diagnosis as well as application of a variety of immunocytochemical and occasionally ultrastructural and/or molecular genetic methods is essential to arrive at a correct diagnosis.

scholarly journals Biphenotypic Sinonasal Sarcoma: A Review and Update

2018 ◽  
Vol 142 (10) ◽  
pp. 1196-1201 ◽  
Author(s):  
Cody S. Carter ◽  
Ellen G. East ◽  
Jonathan B. McHugh
Keyword(s):  
Differential Diagnosis ◽  
Soft Tissue ◽  
Myogenic Differentiation ◽  
Data Sources ◽  
Low Grade ◽  
Diagnostic Features ◽  
Nasal Symptoms ◽  
Sinonasal Tumor ◽  
Slow Growing ◽  
Biphenotypic Sinonasal Sarcoma

Context.— Biphenotypic sinonasal sarcoma (BSNS) is a rare, slow-growing soft tissue sarcoma of the sinonasal tract, typically presenting with nonspecific obstructive nasal symptoms. Although recurrences are common, no metastases have been reported, and only 1 patient has died of disease thus far. It characteristically demonstrates rearrangements of PAX3 with multiple fusion partners, the most common of which is MAML3. Objectives.— To highlight the most important diagnostic features, including morphologic, immunohistochemical, and molecular findings, and to provide comparisons to other entities in the differential diagnosis. We also aim to provide a summary of the clinical features and outcomes in cases reported to date. Data Sources.— Recently published literature encompassing BSNS and its synonym, low-grade sinonasal sarcoma with neural and myogenic differentiation. Conclusions.— BSNS is a sinonasal tumor that is important to recognize because its biologic behavior differs from most of the entities in the differential diagnosis. The diagnosis can typically be rendered through a combination of morphology, immunohistochemical stains, and ancillary testing for characteristic PAX3 rearrangements.

Breast Carcinoma Arising in Microglandular Adenosis: A Review of the Literature

2007 ◽  
Vol 131 (9) ◽  
pp. 1397-1399
Author(s):  
Afshin Salarieh ◽  
Nour Sneige
Keyword(s):  
Breast Lesion ◽  
S100 Protein ◽  
Low Grade ◽  
Benign Breast Lesion ◽  
Diagnostic Features ◽  
Tubular Carcinoma ◽  
Margins Of Excision ◽  
Well Differentiated ◽  
Microglandular Adenosis ◽  
Estrogen And Progesterone Receptor

Abstract Microglandular adenosis is widely known as a benign breast lesion that can produce a mass. It differs from other types of adenosis by having an infiltrative pattern of growth and glands lacking a myoepithelial layer. Although in every other aspect the cells lining the glands are epithelial, they stain strongly with S100 protein. Most cases of microglandular adenosis are resolved after adequate excision, but more recent data suggest that this lesion may be a precursor for carcinoma, with atypical microglandular adenosis being an intermediate lesion. Carcinomas arising in a background of microglandular adenosis, although they may be low grade, are commonly estrogen and progesterone receptor negative, in contrast to most conventional low-grade carcinomas unrelated to microglandular adenosis. They also show immunopositivity for S100 protein, similar to microglandular adenosis. Diagnostic problems include differentiating microglandular adenosis from carcinoma and assessing the extent of the carcinoma component. In this review, we discuss the histomorphologic and immunophenotypic characteristic of the spectrum of microglandular adenosis lesions with emphasis on diagnostic features distinguishing microglandular adenosis from well-differentiated carcinoma, in particular, tubular carcinoma, and assessment of surgical margins of excision in such lesions.

Sclerosing Epithelioid Fibrosarcoma: A Case Report

2005 ◽  
Vol 114 (2) ◽  
pp. 87-89 ◽  
Author(s):  
Andrew P. Battiata ◽  
John Casler
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Head And Neck ◽  
Rare Variant ◽  
Head And Neck Neoplasms ◽  
Low Grade ◽  
Oval Cells ◽  
Sclerosing Epithelioid Fibrosarcoma ◽  
Collagenous Tissue ◽  
Mesenchymal Neoplasm

Sclerosing epithelioid fibrosarcoma (SEF) is a rare variant of fibrosarcoma. It is a mesenchymal neoplasm composed of round to oval cells dispersed in a nestlike or cordlike distribution on a highly collagenous tissue background and is now recognized as a distinct clinical entity. In this report we discuss the presentation, diagnosis, and treatment of SEF. We focus on the unique histologic and immunohistochemical properties of this lesion. It is essential for both the surgeon and the pathologist to be aware of SEF and include it in the differential diagnosis for atypical head and neck neoplasms. Sclerosing epithelioid fibrosarcoma is a rare neoplasm that is now listed among the low-grade neoplasms that may occur in the head and neck. However, its behavior tends to be typical of more aggressive lesions. An awareness of this characteristic of SEF is essential for clinicians and pathologists alike.

Primary Pleural Neoplasia: Entities Other Than Diffuse Malignant Mesothelioma

2008 ◽  
Vol 132 (7) ◽  
pp. 1149-1170 ◽  
Author(s):  
Donald G. Guinee ◽  
Timothy Craig Allen
Keyword(s):  
Differential Diagnosis ◽  
Literature Review ◽  
Malignant Mesothelioma ◽  
Correct Diagnosis ◽  
Metastatic Carcinoma ◽  
Data Sources ◽  
Pleural Tumor ◽  
Neoplasm Primary ◽  
Diffuse Malignant Mesothelioma ◽  
Pleural Neoplasms

Abstract Context.—Overwhelmingly, the most common neoplasm involving the pleura is metastatic carcinoma. In contrast, diffuse malignant mesothelioma occurs relatively rarely; however, it is nonetheless the most common neoplasm primary to the pleura. Metastatic carcinoma and diffuse malignant mesothelioma each have their own prognostic and therapeutic characteristics. Other primary pleural neoplasms occur uncommonly or rarely, with their own prognostic and therapeutic characteristics. Objective.—To review primary pleural neoplasms other than diffuse malignant mesothelioma, to better ensure correct diagnosis and optimal assessment of prognosis and treatment. Data Sources.—Literature review and primary material from the authors' institutions. Conclusions.—A nonexhaustive group of uncommon to rare benign and malignant primary pleural neoplasms— other than diffuse malignant mesothelioma—are presented, of which one must be aware in order to maintain an appropriate index of suspicion to include them in the differential diagnosis of a pleural tumor.

Isolated tumorous Langerhans cell histiocytosis of the brainstem: a diagnostic and therapeutic challenge

2013 ◽  
Vol 12 (3) ◽  
pp. 258-261 ◽  
Author(s):  
Amey Savardekar ◽  
Manjul Tripathi ◽  
Deepak Bansal ◽  
Kim Vaiphei ◽  
Sunil K. Gupta
Keyword(s):  
Differential Diagnosis ◽  
Diabetes Insipidus ◽  
Rapid Growth ◽  
Langerhans Cell Histiocytosis ◽  
Histopathological Examination ◽  
S100 Protein ◽  
Langerhans Cell ◽  
Rare Entity ◽  
Diagnostic Features ◽  
Chemotherapeutic Regimen

Langerhans cell histiocytosis (LCH) of the CNS is a rare entity, known to involve primarily the hypothalamicpituitary region, with the clinical hallmark of diabetes insipidus. There have been a few reports of CNS LCH involving the brainstem as intraparenchymal enhancing lesions, but this has never been the presenting complaint of LCH. The authors report on a 7-year-old boy who presented with right cerebellopontine syndrome, in whom a well-defined, solid, enhancing lesion in the brainstem was diagnosed. Clinicoradiological differential diagnosis included glioma and tuberculosis. Biopsy revealed atypical histiocytes positive for CD68, CD1a, and S100 protein; these are the diagnostic features of LCH on histopathological examination. The rapid growth of the lesion was controlled with a chemotherapeutic regimen of cladribine.

scholarly journals Differential Diagnosis of Appendiceal Serrated Lesions and Polyps and Low-Grade Appendiceal Mucinous Neoplasm: Analysis Of 88 Cases

2021 ◽  
Author(s):  
Yiyan Lu ◽  
Changhai Qi ◽  
Hongbin Xu ◽  
Mulan Jin
Keyword(s):  
Differential Diagnosis ◽  
Acute Inflammation ◽  
Clinicopathological Features ◽  
Low Grade ◽  
Muscularis Mucosa ◽  
Diagnostic Features ◽  
Mucinous Neoplasm ◽  
Center Hospital ◽  
Epithelial Structure ◽  
Serrated Lesions

Abstract Purpose: To identify clinicopathological features for the differential diagnosis of appendiceal serrated lesions and polyps (SPs) and low-grade appendiceal mucinous neoplasm (LAMN) for the purpose of avoiding over‐diagnosis.Methods: Clinical data and pathological features of 66 patients with SPs diagnosed at the Aerospace Center Hospital between January 2013 and January 2021 were collected and compared to 22 cases of LAMN.Results: SPs, compared with LAMN, are likely to be associated with acute inflammation (SPs 53.0% vs. LAMN 18.2%), and may be located in the appendix partly, although with smaller diameter (average 9.6 vs. 27.2 mm); epithelial structures of serrated (100% vs. 22.7%) and filiform villous (47.0% vs. 18.2%) were often found in SPs. SPs occasionally show attenuated or flattened morphology (16.7% vs. 100%) and undulating or scalloped (7.6% vs. 40.9%) structures, and can also be accompanied by diverticulum (18.2% vs. 18.2%) and acellular mucin in the appendiceal wall (16.7% vs. 54.5%), which causes confusion with LAMN. The key point of the differential diagnosis is to observe whether the muscularis mucosa exists (loss, 0% vs. 100%) and fibrosis of the appendiceal wall (0% vs. 100%). SMA immunohistochemistry can assist in the diagnosis. Calcification is also indicative of LAMN.Conclusions: The epithelial structure of SPs can appear flattened and focally scalloped, and can be accompanied by mucin in the appendiceal wall, which may appear as complex lesions, easily over-diagnosed as LAMN. Key differential diagnostic features are identifying the structure of lamina propria, determining whether the muscularis mucosa exists, and whether the appendiceal wall is fibrotic.

Primary Appendiceal Gastrointestinal Stromal Tumor: A Case of an Incidental Tumor

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S72-S72
Author(s):  
L Balikani
Keyword(s):  
Differential Diagnosis ◽  
Gastrointestinal Stromal Tumor ◽  
Mitotic Activity ◽  
English Literature ◽  
Low Risk ◽  
Stromal Tumor ◽  
Thick Wall ◽  
Low Grade ◽  
Stromal Tumors ◽  
Mesenchymal Neoplasm

Abstract Introduction/Objective Gastrointestinal stromal tumors (GISTs) are rare with an approximate prevalence of 2%. Though rare, they are the most common mesenchymal neoplasm of the gastrointestinal tract. They commonly occur in the stomach (50-60%), small intestine (20-30%), large intestine and esophagus (<10%). GISTs arising in the appendix are very rare, with less than 20 cases reported in the English literature to date. The clinical presentation varies from appendicitis-like symptoms to incidental findings on imaging, during surgery for other diseases or at autopsy. The differential diagnosis of GIST from other stromal tumors is often difficult on hematoxylin and eosin (H&E) examination alone. The use of immunohistochemistry (IHC) plays a key role in confirming the diagnosis. GISTs can be graded based on a four-tier risk stratification system, including high, intermediate, low and very low risk, taking size tumor and mitotic activity into consideration. Most of the previously reported cases of primary appendiceal GIST were low or very low risk but one case of malignant GIST arising in the appendix has been reported. Methods We present the case of a 65-year-old male with a slightly thickened appendix and fluid in the distal aspect incidentally found on computer tomography (CT) scan for diverticulitis workup. An appendectomy with adequate was performed. The gross specimen revealed a 0.2-0.4 cm thick wall with no gross perforations or masses. Histologically, the tumor measured 0.8 cm and was composed of spindle cells with no nuclear atypia and absent to low mitotic activity. The IHC profile of the tumor was positive for CD117, DOG1 and CD34. A diagnosis of Gastrointestinal stromal tumor, low grade was rendered. Conclusion We endeavor to highlight the importance of considering GIST in the differential diagnosis in patients with nonspecific symptoms and/or atypical image findings of the appendix especially in ruling out a possible malignant GIST.

scholarly journals Phyllodes Tumor of the Breast: Histopathologic Features, Differential Diagnosis, and Molecular/Genetic Updates

2016 ◽  
Vol 140 (7) ◽  
pp. 665-671 ◽  
Author(s):  
Yanhong Zhang ◽  
Celina G Kleer
Keyword(s):  
Differential Diagnosis ◽  
Drug Targets ◽  
Wide Spectrum ◽  
English Literature ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Phyllodes Tumor ◽  
Molecular Pathogenesis ◽  
World Health ◽  
Pathologic Features

Context.—Phyllodes tumor (PT) of the breast is a rare fibroepithelial neoplasm with risks of local recurrence and uncommon metastases. The classification proposed by the World Health Organization for PTs into benign, borderline, and malignant is based on a combination of several histologic features. The differential diagnosis between PT and fibroadenoma and the histologic grading of PT remain challenging. In addition, the molecular pathogenesis of PT is largely unknown. Objective.—To provide an updated overview of pathologic features, diagnostic terminology, and molecular alterations of PT. Data Sources.—Current English literature related to PT of the breast. Conclusions.—Phyllodes tumor shows a wide spectrum of morphology. There are no clearly distinct boundaries between PT and fibroadenoma. Strict histologic assessment of a combination of histologic features with classification can help to achieve the correct diagnosis and provide useful clinical information. The genomic landscapes of PT generated from genomic sequencing provide insights into the molecular pathogenesis of PT and help to improve diagnostic accuracy and identify potential drug targets in malignant PT.

Update on Selected Salivary Gland Neoplasms

2009 ◽  
Vol 133 (11) ◽  
pp. 1763-1774 ◽  
Author(s):  
Jonathan B. McHugh ◽  
Daniel W. Visscher ◽  
E. Leon Barnes
Keyword(s):  
Salivary Gland ◽  
Clinical Management ◽  
Correct Diagnosis ◽  
Carcinoma Ex Pleomorphic Adenoma ◽  
Low Grade ◽  
Diagnostic Features ◽  
Duct Carcinoma ◽  
Histologic Subtype ◽  
Tumor Periphery ◽  
Degree Of Differentiation

Abstract Context.—Malignancies of the salivary gland are uncommon and account for 0.3% of all malignancies. In addition to their rarity, diagnosing these tumors can be challenging given the histologic overlap among various subtypes, their morphologic heterogeneity, and the recent recognition of new entities. Objective.—To provide an overview of 4 salivary gland malignancies that we often see in consultation, with a focus on essential diagnostic features and the importance of reporting pertinent diagnostic information to ensure appropriate clinical management. Data Sources.—Review of the literature, supplemented by the personal experience of the authors, which is based on their respective institutional experiences and consultation services. Conclusions.—When diagnosing carcinoma ex pleomorphic adenoma, pathologists must report several important pieces of information to allow for optimal clinical management. In addition to histologic subtype, the degree of differentiation as well as the degree of invasion, if any, must be reported because all have prognostic relevance. Polymorphous low-grade adenocarcinoma can be a challenging diagnosis on biopsy specimens. Evaluation of the tumor periphery and nuclear features should lead to the correct diagnosis in most cases. Salivary duct carcinoma is an aggressive malignancy characterized by histologic resemblance to breast carcinoma, high-grade cytologic features, and expression of androgen receptor. Benign and malignant myoepithelial neoplasms have a broad morphologic spectrum, and immunohistochemistry is important in reaching the correct diagnosis.

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