Cytogenetic and molecular genetic techniques as adjunctive approaches in the diagnosis of bone and soft tissue tumors

2000 ◽  
Vol 29 (5) ◽  
pp. 249-258 ◽  
Author(s):  
J. A. Bridge ◽  
A. A. Sandberg
Keyword(s):  
Soft Tissue ◽  
Molecular Genetic ◽  
Soft Tissue Tumors ◽  
Genetic Techniques

Application of Immunohistochemistry to Soft Tissue Neoplasms

2008 ◽  
Vol 132 (3) ◽  
pp. 476-489 ◽  
Author(s):  
Josefine Heim-Hall ◽  
Sophia L. Yohe
Keyword(s):  
Soft Tissue ◽  
Rapid Development ◽  
Molecular Genetic ◽  
Cell Lineage ◽  
Soft Tissue Tumors ◽  
Specific Cell ◽  
Round Cell ◽  
Diagnostic Challenge ◽  
Important Diagnostic Tool ◽  
Genetic Techniques

Abstract Context.—Soft tissue tumors are composed of numerous and complex diagnostic entities. Because of this complexity and the recognition of an intermediate malignancy category including some tumors with a deceptively bland histologic appearance, soft tissue tumors may represent a major diagnostic challenge to the general practicing pathologist. Objective.—To correctly diagnose soft tissue tumors with the ancillary use of immunohistochemistry. Data Sources.—Review of the current literature with emphasis on those tumors for which immunohistochemistry has proven to be particularly useful. Conclusions.—Immunohistochemistry plays an important role in the diagnosis of soft tissue tumors. One of its major utilities is to correctly identify a tumor as being of mesenchymal or nonmesenchymal origin. Once mesenchymal origin has been established, histologic subtyping according to specific cell lineage may be achieved with the use of lineage-specific markers. Tumors of uncertain cell lineage and tumors with primitive small round cell morphology are often characterized by a unique immunohistochemical phenotype. In this group of tumors, immunohistochemistry is most widely applied and is of greatest value. Despite the rapid development of molecular genetic techniques, immunohistochemistry still remains the most important diagnostic tool in the diagnosis of soft tissue tumors aside from recognition of morphologic features and clinical correlation.

scholarly journals Soft Tissue Tumor Immunohistochemistry Update: Illustrative Examples of Diagnostic Pearls to Avoid Pitfalls

2017 ◽  
Vol 141 (8) ◽  
pp. 1072-1091 ◽  
Author(s):  
Shi Wei ◽  
Evita Henderson-Jackson ◽  
Xiaohua Qian ◽  
Marilyn M. Bui
Keyword(s):  
Soft Tissue ◽  
English Language ◽  
Molecular Genetic ◽  
Soft Tissue Tumors ◽  
Genetic Alterations ◽  
World Health ◽  
Immunohistochemical Markers ◽  
Classification Of Tumors ◽  
Health Organization

Context.— Current 2013 World Health Organization classification of tumors of soft tissue arranges these tumors into 12 groups according to their histogenesis. Tumor behavior is classified as benign, intermediate (locally aggressive), intermediate (rarely metastasizing), and malignant. In our practice, a general approach to reaching a definitive diagnosis of soft tissue tumors is to first evaluate clinicoradiologic, histomorphologic, and cytomorphologic features of the tumor to generate some pertinent differential diagnoses. These include the potential line of histogenesis and whether the tumor is benign or malignant, and low or high grade. Although molecular/genetic testing is increasingly finding its applications in characterizing soft tissue tumors, currently immunohistochemistry still not only plays an indispensable role in defining tumor histogenesis, but also serves as a surrogate for underlining molecular/genetic alterations. Objective— To provide an overview focusing on the current concepts in the classification and diagnosis of soft tissue tumors, incorporating immunohistochemistry. This article uses examples to discuss how to use the traditional and new immunohistochemical markers for the diagnosis of soft tissue tumors. Practical diagnostic pearls, summary tables, and figures are used to show how to avoid diagnostic pitfalls. Data Sources.— Data were obtained from pertinent peer-reviewed English-language literature and the authors' first-hand experience as bone and soft tissue pathologists. Conclusions.— —The ultimate goal for a pathologist is to render a specific diagnosis that provides diagnostic, prognostic, and therapeutic information to guide patient care. Immunohistochemistry is integral to the diagnosis and management of soft tissue tumors.

Molecular Diagnostics of Soft Tissue Tumors

2011 ◽  
Vol 135 (5) ◽  
pp. 588-601
Author(s):  
Julia A. Bridge ◽  
Allison M. Cushman-Vokoun
Keyword(s):  
Soft Tissue ◽  
Medical Center ◽  
Molecular Genetic ◽  
Soft Tissue Tumors ◽  
Mesenchymal Tumor ◽  
Molecular Diagnostic ◽  
Diagnostic Tools ◽  
Diagnostic Laboratory ◽  
Tumor Diagnostics ◽  
Conventional Microscopy

Abstract Context.—Soft tissue pathology encompasses a remarkably diverse assortment of benign and malignant soft tissue tumors. Rendering a definitive diagnosis is complicated not only by the large volume of existing histologic subtypes (>100) but also frequently by the presence of overlapping clinical, histologic, immunohistochemical, and/or radiographic features. During the past 3 decades, mesenchymal tumor–specific, cytogenetic and molecular genetic abnormalities have demonstrated an increasingly important, ancillary role in mesenchymal tumor diagnostics. Objectives.—To review molecular diagnostic tools available to the pathologist to further classify specific soft tissue tumor types and recurrent aberrations frequently examined. Advantages and limitations of individual approaches will also be highlighted. Data Sources.—Previously published review articles, peer-reviewed research publications, and the extensive cytogenetic and molecular diagnostic experience of the authors to include case files of The University of Nebraska Medical Center. Conclusions.—Cytogenetic and molecular genetic assays are used routinely for diagnostic purposes in soft tissue pathology and represent a powerful adjunct to complement conventional microscopy and clinicoradiographic evaluation in the formulation of an accurate diagnosis. Care should be taken, however, to recognize the limitations of these approaches. Ideally, more than one technical approach should be available to a diagnostic laboratory to compensate for the shortcomings of each approach in the assessment of individual specimens.

Expanding the Molecular Genetic Spectrum of Bone and Soft Tissue Fibrosarcomas: An Institutional Experience

2021 ◽  
pp. 106689692110378
Author(s):  
Bruce D. Leckey ◽  
Ivy John ◽  
Abigail Wald ◽  
Rana Naous
Keyword(s):  
Soft Tissue ◽  
Gene Fusion ◽  
Molecular Genetic ◽  
Soft Tissue Tumors ◽  
Molecular Testing ◽  
Female Ratio ◽  
Pik3ca Gene ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Fusion Analysis

Introduction. Fibrosarcomas, once comprising the majority of unclassifiable spindle-cell sarcomas, are now regarded as a diagnosis of exclusion. Objectives. Prompted by an index report of neurotrophic receptor tyrosine kinase (NTRK)3 fusion in fibrosarcomas by Yamazaki et al bone/soft tissue tumors diagnosed as fibrosarcoma at our institution were evaluated in an attempt to expand the genetic spectrum of fibrosarcomas and identify therapeutically targetable cases. Methods. Institutional archives were searched for cases diagnosed as “fibrosarcoma” involving bone/soft tissue from 2000 to present. Twenty-one cases meeting inclusion criteria were identified, 10 of which had formalin-fixed paraffin-embedded tissue available for molecular testing. One case, at the submitting clinician's request, underwent outside deoxyribonucleic acid/ribonucleic acid (DNA/RNA) sequencing while the 9 remaining cases underwent in-house next-generation sequencing RNA fusion analysis. Results. At the time of diagnosis the mean age was 54.5 (range 14-88) with a male to female ratio of 1.5:1. Locations included soft tissue of the lower extremity (3), trunk (2), pelvis (2), head (1), upper extremity (1), and bone (1). Of the 10 cases, 1 demonstrated an FNDC3B-PIK3CA gene fusion and 1 demonstrated a BRAF (p.G469A ) mutation and CDKN2A/B loss. Conclusion. In conclusion, our study demonstrated gene fusions in 1 (10%) of 10 fibrosarcomas diagnosed at our institution in the past 20 years, including FNDC3B-PIK3CA gene fusion. Additionally, 1 case harbored BRAF (p.G469A) mutation and CDKN2A/B loss with no evidence of gene fusion. NTRK rearrangements were not detected. The significance of these molecular aberrations is presently unclear and future studies are needed to establish whether these findings carry any clinicopathologic significance.

scholarly journals Diagnostic Immunohistochemistry of Soft Tissue and Bone Tumors: An Update on Biomarkers That Correlate with Molecular Alterations

Diagnostics ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 690
Author(s):  
William J. Anderson ◽  
Vickie Y. Jo
Keyword(s):  
Soft Tissue ◽  
Molecular Genetic ◽  
Bone Neoplasms ◽  
Aberrant Methylation ◽  
Single Nucleotide Variants ◽  
Molecular Alterations ◽  
Molecular Events ◽  
Diagnosis And Classification ◽  
Genetic Techniques ◽  
Tumor Types

The diagnosis of benign and malignant soft tissue and bone neoplasms is a challenging area of surgical pathology, due to the large number, rarity, and histologic diversity of tumor types. In recent years, diagnosis and classification has been aided substantially by our growing understanding of recurrent molecular alterations in these neoplasms. Concurrently, the role of diagnostic immunohistochemistry has also expanded, with the development of numerous biomarkers based on underlying molecular events. Such biomarkers allow us to infer the presence of these events and can therefore substitute for other ancillary molecular genetic techniques (e.g., fluorescence in situ hybridization, polymerase chain reaction, and next-generation sequencing). In this review, we discuss a range of biomarkers currently available for these neoplasms, highlighting the accuracy, staining characteristics, and interpretation pitfalls of each antibody. These include immunohistochemical antibodies that represent reliable surrogates for the detection of gene fusions (e.g., STAT6, CAMTA1, FOSB, DDIT3) and more recently described breakpoint-specific antibodies (e.g., SS18-SSX, PAX3/7-FOXO1). Additionally, discussed are markers that correlate with the presence of gene amplifications (e.g., MDM2, CDK4), deletions (e.g., SMARCB1, SMARCA4), single nucleotide variants (e.g., G34W, K36M), aberrant methylation (H3K27me3), and increased expression as discovered through gene expression profiling (e.g., MUC4, DOG1, ETV4, NKX2.2, NKX3.1).

Localization of Gallium-67 in Peritoneal Cells by Electron Microscopic Autoradiography

1973 ◽  
Vol 31 ◽  
pp. 404-405
Author(s):  
D. C. Swartzendruber ◽  
Norma L. Idoyaga-Vargas
Keyword(s):  
Clinical Trials ◽  
Soft Tissue ◽  
Tumor Tissue ◽  
Soft Tissue Tumors ◽  
Clinical Usefulness ◽  
Electron Microscopic ◽  
Normal Cells ◽  
Electron Microscopic Autoradiography ◽  
Peritoneal Cells ◽  
Gallium 67

The radionuclide gallium-67 (67Ga) localizes preferentially but not specifically in many human and experimental soft-tissue tumors. Because of this localization, 67Ga is used in clinical trials to detect humar. cancers by external scintiscanning methods. However, the fact that 67Ga does not localize specifically in tumors requires for its eventual clinical usefulness a fuller understanding of the mechanisms that control its deposition in both malignant and normal cells. We have previously reported that 67Ga localizes in lysosomal-like bodies, notably, although not exclusively, in macrophages of the spocytaneous AKR thymoma. Further studies on the uptake of 67Ga by macrophages are needed to determine whether there are factors related to malignancy that might alter the localization of 67Ga in these cells and thus provide clues to discovering the mechanism of 67Ga localization in tumor tissue.

Percutaneous Imaging-Guided versus Open Musculoskeletal Biopsy: Concepts and Controversies

2020 ◽  
Vol 24 (06) ◽  
pp. 667-675
Author(s):  
Violeta Vasilevska Nikodinovska ◽  
Slavcho Ivanoski ◽  
Milan Samardziski ◽  
Vesna Janevska
Keyword(s):  
Soft Tissue ◽  
Complication Rate ◽  
Core Needle Biopsy ◽  
Multidisciplinary Team ◽  
Gold Standard ◽  
Needle Biopsy ◽  
Soft Tissue Tumors ◽  
Open Biopsy ◽  
Core Needle ◽  
Similar Accuracy

AbstractBone and soft tissue tumors are a largely heterogeneous group of tumors. Biopsy of musculoskeletal (MSK) tumors is sometimes a challenging procedure. Although the open biopsy is still considered the gold standard for the biopsy of MSK lesions, core needle biopsy can replace it in most cases, with similar accuracy and a low complication rate. The biopsy should be performed in a tertiary sarcoma center where the multidisciplinary team consists of at minimum a tumor surgeon, an MSK pathologist, and an MSK radiologist who can assess all steps of the procedure. Several factors can influence the success of the biopsy including the lesion characteristics, the equipment, and the method used for the procedure. This review highlights some of the important aspects regarding the biopsy of the MSK tumors, with special attention to imaging a guided core needle biopsy and highlighting some of the recent advancements and controversies in the field.

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