Bone & Soft Tissue
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Who, How and What of Pathology of Soft Tissue Sarcoma
Editorial Page 1 of 11 Who, how and what of pathology of soft tissue sarcoma Salvatore Lorenzo Renne Anatomic Pathology Unit, Humanitas Research Hospital, Humanitas University, Rozzano, MI 20089, Italy Correspondence to: Salvatore Lorenzo Renne. Adjunct Teaching Professor, Anatomic Pathology Unit, Humanitas Research Hospital, Humanitas University, Via Manzoni 56, Rozzano, MI 20089, Italy. Email: [email protected]. Submitted Aug 06, 2018. Accepted for publication Aug 23, 2018. doi: 10.21037/cco.2018.10.09 View this article at: http://dx.doi.org/10.21037/cco.2018.10.09 Introduction to soft tissue sarcoma (STS) adipocytes (lipoma, spindle cells lipoma, hibernoma, well- pathology differentiated liposarcoma (LPS), myxoid LPS, etc.). One chapter is dedicated to specific entities “of uncertain STS is a generic term that refers to a heterogeneous group differentiation” that are well-characterized entities that do of rare neoplastic diseases. The aim of this review is to not readily resemble any normal mesenchymal cells (as the discuss the role of pathology in the multidisciplinary Ewing sarcoma or the synovial sarcoma—a clear misnomer). management of STS patients. This will be done: (I) The last chapter is dedicated to those sarcomas that do illustrating the framework for the current classification; (II) not follow in any of the previously listed diagnosis and are examining the characteristics that allows an expert diagnosis; therefore called “undifferentiated/unclassified sarcomas” (III) describing the role of the sarcoma pathologist -
Familial Nephropathy and Multiple Exostoses with Exostosin-1 (EXT1) Gene Mutation
PATHOPHYSIOLOGY of the RENAL BIOPSY www.jasn.org Familial Nephropathy and Multiple Exostoses With Exostosin-1 (EXT1) Gene Mutation Ian S. D. Roberts* and Jonathan M. Gleadle† *Department of Cellular Pathology, John Radcliffe Hospital, Headley Way, Headington, Oxford, United Kingdom; and †Renal Unit, Level 6, Flinders Medical Centre, Bedford Park, South Australia, Australia ABSTRACT Glomerular deposition of fibrillar collagen is a characteristic finding of genetically mained in remission with trace protein- distinct conditions, including nail-patella syndrome and collagen type III glomeru- uria until cyclosporine was stopped 3.5 lopathy. A case of familial nephropathy in which steroid-sensitive nephrotic syn- yr later. Six months after this, she suf- drome and glomerular deposits of fibrillar collagen are associated with multiple fered another relapse of nephrotic exostoses due to mutation of the EXT1 gene is described. This gene encodes a syndrome that responded to 60 mg pred- glycosyltransferase required for synthesis of heparan sulfate glycosaminoglycans. nisolone and reintroduction of cyclo- There is deficiency of heparan sulfate and perlecan, together with accumulation of sporine. After a further relapse 18 mo collagens, in the matrix of EXT1-associated osteochondromas. Similar glomerular later and because of the development of basement membrane abnormalities could offer an explanation for both the renal adverse corticosteroid effects, she was ultrastructural changes and steroid-sensitive nephrotic syndrome. treated with a 2-mo course of cyclophos- phamide (2.5 mg/kg, orally). Ten years J Am Soc Nephrol 19: 450–453, 2008. doi: 10.1681/ASN.2007080842 after her initial presentation, she remains in full remission and off steroids. Renal function has remained normal through- A 37-yr-old woman presented with the history of renal disease and hearing im- out with a current serum creatinine of nephrotic syndrome. -
Complete Case of a Rare but Benign Soft Tissue Tumor
Hindawi Case Reports in Orthopedics Volume 2019, Article ID 6840693, 5 pages https://doi.org/10.1155/2019/6840693 Case Report Hibernoma of the Upper Extremity: Complete Case of a Rare but Benign Soft Tissue Tumor Thomas Reichel ,1 Kilian Rueckl,1 Annabel Fenwick,1,2 Niklas Vogt,3 Maximilian Rudert,1 and Piet Plumhoff1 1Department of Orthopedic Surgery, Koenig-Ludwig-Haus, University of Wuerzburg, Brettreichstraße 11, 97074 Wuerzburg, Germany 2Department of Trauma Surgery, Klinikum Augsburg, 86156 Augsburg, Germany 3Department of Pathology, University of Wuerzburg, 97080 Wuerzburg, Germany Correspondence should be addressed to Thomas Reichel; [email protected] Received 26 February 2019; Accepted 14 April 2019; Published 21 May 2019 Academic Editor: Elke R. Ahlmann Copyright © 2019 Thomas Reichel et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Hibernoma is a rare benign lipomatous tumor showing differentiation of brown fatty tissue. To the author’s best knowledge, there is no known case of malignant transformation or metastasis. Due to their slow, noninfiltrating growth hibernomas are often an incidental finding in the third or fourth decade of life. The vast majority are located in the thigh, neck, and periscapular region. A diagnostic workup includes ultrasound and contrast-enhanced MRI. Differential diagnosis is benign lipoma, well- differentiated liposarcoma, and rhabdomyoma. An incisional biopsy followed by marginal resection of the tumor is the standard of care, and recurrence after complete resection is not reported. The current paper presents diagnostic and intraoperative findings of a hibernoma of the upper arm and reviews similar reports in the current literature. -
CRISPR Screening of Porcine Sgrna Library Identifies Host Factors
ARTICLE https://doi.org/10.1038/s41467-020-18936-1 OPEN CRISPR screening of porcine sgRNA library identifies host factors associated with Japanese encephalitis virus replication Changzhi Zhao1,5, Hailong Liu1,5, Tianhe Xiao1,5, Zichang Wang1, Xiongwei Nie1, Xinyun Li1,2, Ping Qian2,3, Liuxing Qin3, Xiaosong Han1, Jinfu Zhang1, Jinxue Ruan1, Mengjin Zhu1,2, Yi-Liang Miao 1,2, Bo Zuo1,2, ✉ ✉ Kui Yang4, Shengsong Xie 1,2 & Shuhong Zhao 1,2 1234567890():,; Japanese encephalitis virus (JEV) is a mosquito-borne zoonotic flavivirus that causes ence- phalitis and reproductive disorders in mammalian species. However, the host factors critical for its entry, replication, and assembly are poorly understood. Here, we design a porcine genome-scale CRISPR/Cas9 knockout (PigGeCKO) library containing 85,674 single guide RNAs targeting 17,743 protein-coding genes, 11,053 long ncRNAs, and 551 microRNAs. Subsequently, we use the PigGeCKO library to identify key host factors facilitating JEV infection in porcine cells. Several previously unreported genes required for JEV infection are highly enriched post-JEV selection. We conduct follow-up studies to verify the dependency of JEV on these genes, and identify functional contributions for six of the many candidate JEV- related host genes, including EMC3 and CALR. Additionally, we identify that four genes associated with heparan sulfate proteoglycans (HSPGs) metabolism, specifically those responsible for HSPGs sulfurylation, facilitate JEV entry into porcine cells. Thus, beyond our development of the largest CRISPR-based functional genomic screening platform for pig research to date, this study identifies multiple potentially vulnerable targets for the devel- opment of medical and breeding technologies to treat and prevent diseases caused by JEV. -
Pediatric Soft Tissue Tumors of Head and Neck – an Update and Review
IP Archives of Cytology and Histopathology Research 2020;5(4):266–273 Content available at: https://www.ipinnovative.com/open-access-journals IP Archives of Cytology and Histopathology Research Journal homepage: https://www.ipinnovative.com/journals/ACHR Review Article Pediatric soft tissue tumors of head and neck – An update and review Shruti Nayak1, Amith Adyanthaya2, Soniya Adyanthaya1,*, Amarnath Shenoy3, M Venkatesan1 1Dept. of Oral Pathology and Microbiology, Yenepoya Dental College, Yenepoya University, Mangalore, Karnataka, India 2Dept. of Pedodontics, KMCT Dental College, Kozhikode, Kerala, India 3Dept. of Conservative and Endodontics, Century Dental College Poinachi, Kasargod, Kerala, India ARTICLEINFO ABSTRACT Article history: Pediatric malignancies especially sarcomas are the most common and predominant cause of mortality in Received 01-12-2020 children. Such ongoing efforts are crucial to better understand the etiology of childhood cancers, get better Accepted 17-12-2020 the survival rate for malignancies with a poor prognosis, and maximize the quality of life for survivors. Available online 30-12-2020 In this review article we authors aim to discuss relatively common benign and malignant connective tissue tumors (soft tissue tumor), focusing on current management strategies and new developments, as they relate to the role of the otolaryngologist– head and neck surgeon. Other rarer paediatric head and neck tumors Keywords: beyond the scope of this review Pediatric Sarcoma © This is an open access article distributed under the terms of the Creative Commons Attribution Soft tissue License (https://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and Tumor reproduction in any medium, provided the original author and source are credited. -
Advances in Immune Checkpoint Inhibitors for Bone Sarcoma Therapy
UCLA UCLA Previously Published Works Title Advances in immune checkpoint inhibitors for bone sarcoma therapy. Permalink https://escholarship.org/uc/item/3k40w8f4 Authors Thanindratarn, Pichaya Dean, Dylan C Nelson, Scott D et al. Publication Date 2019-04-01 DOI 10.1016/j.jbo.2019.100221 Peer reviewed eScholarship.org Powered by the California Digital Library University of California Journal of Bone Oncology 15 (2019) 100221 Contents lists available at ScienceDirect Journal of Bone Oncology journal homepage: www.elsevier.com/locate/jbo Review Article Advances in immune checkpoint inhibitors for bone sarcoma therapy T Pichaya Thanindratarna,b, Dylan C. Deana, Scott D. Nelsonc, Francis J. Horniceka, ⁎ Zhenfeng Duana, a Department of Orthopedic Surgery, Sarcoma Biology Laboratory, David Geffen School of Medicine, University of California, 615 Charles E. Young. Dr. South, Los Angeles, CA 90095, USA b Department of Orthopedic Surgery, Chulabhorn hospital, HRH Princess Chulabhorn College of Medical Science, Bangkok, Thailand c Department of Pathology, University of California, Los Angeles, CA, USA ARTICLE INFO ABSTRACT Keywords: Bone sarcomas are a collection of sporadic malignancies of mesenchymal origin. The most common subtypes Immune checkpoint include osteosarcoma, Ewing sarcoma, chondrosarcoma, and chordoma. Despite the use of aggressive treatment Immunotherapy protocols consisting of extensive surgical resection, chemotherapy, and radiotherapy, outcomes have not sig- Bone sarcoma nificantly improved over the past few decades for osteosarcoma or Ewing sarcoma patients. In addition, chon- Anti-PD-1/PD-L1 drosarcoma and chordoma are resistant to both chemotherapy and radiation therapy. There is, therefore, an Anti-CTLA-4 urgent need to elucidate which novel new therapies may affect bone sarcomas. -
Soft Tissue Cytopathology: a Practical Approach Liron Pantanowitz, MD
4/1/2020 Soft Tissue Cytopathology: A Practical Approach Liron Pantanowitz, MD Department of Pathology University of Pittsburgh Medical Center [email protected] What does the clinician want to know? • Is the lesion of mesenchymal origin or not? • Is it begin or malignant? • If it is malignant: – Is it a small round cell tumor & if so what type? – Is this soft tissue neoplasm of low or high‐grade? Practical diagnostic categories used in soft tissue cytopathology 1 4/1/2020 Practical approach to interpret FNA of soft tissue lesions involves: 1. Predominant cell type present 2. Background pattern recognition Cell Type Stroma • Lipomatous • Myxoid • Spindle cells • Other • Giant cells • Round cells • Epithelioid • Pleomorphic Lipomatous Spindle cell Small round cell Fibrolipoma Leiomyosarcoma Ewing sarcoma Myxoid Epithelioid Pleomorphic Myxoid sarcoma Clear cell sarcoma Pleomorphic sarcoma 2 4/1/2020 CASE #1 • 45yr Man • Thigh mass (fatty) • CNB with TP (DQ stain) DQ Mag 20x ALT –Floret cells 3 4/1/2020 Adipocytic Lesions • Lipoma ‐ most common soft tissue neoplasm • Liposarcoma ‐ most common adult soft tissue sarcoma • Benign features: – Large, univacuolated adipocytes of uniform size – Small, bland nuclei without atypia • Malignant features: – Lipoblasts, pleomorphic giant cells or round cells – Vascular myxoid stroma • Pitfalls: Lipophages & pseudo‐lipoblasts • Fat easily destroyed (oil globules) & lost with preparation Lipoma & Variants . Angiolipoma (prominent vessels) . Myolipoma (smooth muscle) . Angiomyolipoma (vessels + smooth muscle) . Myelolipoma (hematopoietic elements) . Chondroid lipoma (chondromyxoid matrix) . Spindle cell lipoma (CD34+ spindle cells) . Pleomorphic lipoma . Intramuscular lipoma Lipoma 4 4/1/2020 Angiolipoma Myelolipoma Lipoblasts • Typically multivacuolated • Can be monovacuolated • Hyperchromatic nuclei • Irregular (scalloped) nuclei • Nucleoli not typically seen 5 4/1/2020 WD liposarcoma Layfield et al. -
The Use of High Tumescent Power Assisted Liposuction in the Treatment of Madelung’S Collar
Letter to the Editor The use of high tumescent power assisted liposuction in the treatment of Madelung’s collar Henryk Witmanowski1,2, Łukasz Banasiak1, Grzegorz Kierzynka1, Jarosław Markowicz1, Jerzy Kolasiński1, Katarzyna Błochowiak3, Paweł Szychta1,4 1Department of Plastic, Reconstructive and Aesthetic Surgery, Medical College in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland 2Department of Physiology, Poznan University of Medical Sciences, Poznan, Poland 3Department of the Oral Surgery, Poznan University of Medical Sciences, Poznan, Poland 4Department of Oncological Surgery and Breast Diseases, Polish Mother’s Memorial Hospital-Research Institute, Lodz, Poland Adv Dermatol Allergol 2017; XXXIV (4): 366–371 DOI: https://doi.org/10.5114/ada.2017.69319 Mild symmetrical lipomatosis (plural symmetrical The disease most commonly takes a proximal form lipomatosis, multiple symmetric lipomatosis – MSL), which takes the following areas of the body with the fol- also known as Madelung’s disease or Launois-Bensaude lowing frequency: the genial area 92.3%, cervical region syndrome is a rare disease of unknown etiology, first de- 67.7%, shoulder region 54.8%, abdominal 45.2%, chest scribed by Brodie in 1846, Madelung in 1888, and Launois 41.9%, thigh and pelvic rim 32.3% [11, 12]. The periph- with Bensaude in 1898 [1–3]. eral type mainly locates on both sides at the level of the Madelung’s disease incidence is 1 : 250000 [4]. Mul- hands, feet and knees, this is definitely a rarer form of tiple symmetric lipomatosis occurs mainly in the inhabit- the disease. The mixed form is described very rarely. The ants of the Mediterranean area and Eastern Europe, in specified central type is also engaged primarily around males (male to female ratio is 20 : 1), aged 30–70 years, the lower torso, and intermediate parts of the legs. -
Selectin Ligand Sialyl-Lewis X Antigen Drives Metastasis of Hormone-Dependent Breast Cancers
Published OnlineFirst October 24, 2011; DOI: 10.1158/0008-5472.CAN-11-1139 Cancer Tumor and Stem Cell Biology Research Selectin Ligand Sialyl-Lewis x Antigen Drives Metastasis of Hormone-Dependent Breast Cancers Sylvain Julien1, Aleksandar Ivetic2, Anita Grigoriadis3, Ding QiZe1, Brian Burford1, Daisy Sproviero1, Gianfranco Picco1, Cheryl Gillett4, Suzanne L. Papp5, Lana Schaffer5, Andrew Tutt3, Joyce Taylor-Papadimitriou1, Sarah E. Pinder4, and Joy M. Burchell1 Abstract The glycome acts as an essential interface between cells and the surrounding microenvironment. However, changes in glycosylation occur in nearly all breast cancers, which can alter this interaction. Here, we report that profiles of glycosylation vary between ER-positive and ER-negative breast cancers. We found that genes involved in the synthesis of sialyl-Lewis x (sLex; FUT3, FUT4, and ST3GAL6) are significantly increased in estrogen receptor alpha-negative (ER-negative) tumors compared with ER-positive ones. SLex expression had no influence on the survival of patients whether they had ER-negative or ER-positive tumors. However, high expression of sLex in ER- positive tumors was correlated with metastasis to the bone where sLex receptor E-selectin is constitutively expressed. The ER-positive ZR-75-1 and the ER-negative BT20 cell lines both express sLex but only ZR-75-1 cells could adhere to activated endothelial cells under dynamic flow conditions in a sLex and E-selectin–dependent manner. Moreover, L/P-selectins bound strongly to ER-negative MDA-MB-231 and BT-20 cell lines in a heparan sulfate (HS)–dependent manner that was independent of sLex expression. Expression of glycosylation genes involved in heparan biosynthesis (EXT1 and HS3ST1) was increased in ER-negative tumors. -
Appendix 4 WHO Classification of Soft Tissue Tumours17
S3.02 The histological type and subtype of the tumour must be documented wherever possible. CS3.02a Accepting the limitations of sampling and with the use of diagnostic common sense, tumour type should be assigned according to the WHO system 17, wherever possible. (See Appendix 4 for full list). CS3.02b If precise tumour typing is not possible, generic descriptions to describe the tumour may be useful (eg myxoid, pleomorphic, spindle cell, round cell etc), together with the growth pattern (eg fascicular, sheet-like, storiform etc). (See G3.01). CS3.02c If the reporting pathologist is unfamiliar or lacks confidence with the myriad possible diagnoses, then at this point a decision to send the case away without delay for an expert opinion would be the most sensible option. Referral to the pathologist at the nearest Regional Sarcoma Service would be appropriate in the first instance. Further International Pathology Review may then be obtained by the treating Regional Sarcoma Multidisciplinary Team if required. Adequate review will require submission of full clinical and imaging information as well as histological sections and paraffin block material. Appendix 4 WHO classification of soft tissue tumours17 ADIPOCYTIC TUMOURS Benign Lipoma 8850/0* Lipomatosis 8850/0 Lipomatosis of nerve 8850/0 Lipoblastoma / Lipoblastomatosis 8881/0 Angiolipoma 8861/0 Myolipoma 8890/0 Chondroid lipoma 8862/0 Extrarenal angiomyolipoma 8860/0 Extra-adrenal myelolipoma 8870/0 Spindle cell/ 8857/0 Pleomorphic lipoma 8854/0 Hibernoma 8880/0 Intermediate (locally -
Neurological Manifestation of Sacral Tumors
Neurosurg Focus 15 (2):Article 1, 2003, Click here to return to Table of Contents Neurological manifestation of sacral tumors MICHAEL PAYER, M.D. Department of Neurosurgery, University Hopital of Geneva, Switzerland An extensive analysis of the existing literature concerning sacral tumors was conducted to characterize their clin- ical manifestations. Although certain specific manifestations can be attributed to some of the tumor types, a more general pattern of clinical presentation of an expansive sacral lesion can be elaborated. Local pain with or without pseudoradicular or radicular radiation is the most frequent initial symptom and is usually followed by the manifesta- tion of a lumbosacral sensorimotor deficit; bladder/bowel and/or sexual dysfunction appear throughout the natural course of disease. KEY WORDS • sacrum • tumor • lesion • neurological presentation All sacral and presacral tumors are rare.32,93 In one se- REVIEW OF SACRAL ANATOMY ries patients with these tumors were estimated to account for approximately one in 40,000 hospital admissions.93 Osseous Structures of the Sacrum Tumors arising from the bone of the sacrum are by far the The sacrum is a complex bone, comprising five sacral most frequent sacral tumors; chordomas are the most com- vertebrae that have fused. In its center lies the longitudi- mon and GCTs the second most common.20,46,50,61,74,81,98 nal sacral canal, which opens caudally posteriorly into the Although sacrococcygeal teratoma is the most common sacral hiatus, an incomplete posterior closure of the S-5 sacral tumor in neonates, it is very rare in adults.30,45,66 lamina. The thick anterior or pelvic face of the sacrum is The author conducted an extensive analysis of the exist- concave and contains four right- and left-sided anterior ing literature concerning tumors of the sacrum to charac- sacral foramina. -
The Role of Cytogenetics and Molecular Diagnostics in the Diagnosis of Soft-Tissue Tumors Julia a Bridge
Modern Pathology (2014) 27, S80–S97 S80 & 2014 USCAP, Inc All rights reserved 0893-3952/14 $32.00 The role of cytogenetics and molecular diagnostics in the diagnosis of soft-tissue tumors Julia A Bridge Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE, USA Soft-tissue sarcomas are rare, comprising o1% of all cancer diagnoses. Yet the diversity of histological subtypes is impressive with 4100 benign and malignant soft-tissue tumor entities defined. Not infrequently, these neoplasms exhibit overlapping clinicopathologic features posing significant challenges in rendering a definitive diagnosis and optimal therapy. Advances in cytogenetic and molecular science have led to the discovery of genetic events in soft- tissue tumors that have not only enriched our understanding of the underlying biology of these neoplasms but have also proven to be powerful diagnostic adjuncts and/or indicators of molecular targeted therapy. In particular, many soft-tissue tumors are characterized by recurrent chromosomal rearrangements that produce specific gene fusions. For pathologists, identification of these fusions as well as other characteristic mutational alterations aids in precise subclassification. This review will address known recurrent or tumor-specific genetic events in soft-tissue tumors and discuss the molecular approaches commonly used in clinical practice to identify them. Emphasis is placed on the role of molecular pathology in the management of soft-tissue tumors. Familiarity with these genetic events