Soft Tissue Tumors E-Book

Jerzy Klijanienko

• Herausgeber: John Wiley & Sons
• Kategorie: Fachliteratur
• Sprache: Englisch

Seitenzahl: 489

Veröffentlichungsjahr: 2011

Beschreibung

Soft tissue tumors (STTs) are frequently misdiagnosed in inexperienced hands. Having diagnosed and treated hundreds of patients with these difficult tumors in the last few years, Institut Curie physicians have collected core data contributing to breakthrough research into the morphological, biological, and molecular aspects of soft tissue tumors, resulting in valuable translational and clinical applications to patient treatment. Soft Tissue Tumors: A Multidisciplinary, Decisional Diagnostic Approach presents a distillation of these experiences, combined with valuable data and perspectives contributed by senior pathologists, oncologists, and radiologists from several of the world’s other leading cancer centers of excellence.

Leseprobe

Contents

Foreword

Preface

Acknowledgments

Contributors

Chapter 1: Clinical Approach in Soft Tissue Tumors

1.1 Epidemiology

1.2 Clinics and Clinical Profiles

1.3 Clinical Differential Diagnosis

1.4 The Importance of Molecular Diagnosis and its Perspectives

1.5 Treatment Strategies

References

Chapter 2: Radiological Diagnostic Approach in Soft Tissue Tumors

2.1 Introduction

2.2 Patient Management

2.3 Imaging Techniques

2.4 Radiologic Characterization

2.5 Tumor Biopsy

References

Chapter 3: Sampling Procedure, Fine Needle Aspiration (FNA), and Core Needle Biopsy (CNB)

3.1 Advantages and Limitations of FNA and CNB in Soft Tissue Lesions

3.2 Techniques of FNA and CNB as Applied to Soft Tissue Lesions

3.3 Processing the FNA and CNB Samples and Preparation of the FNA Specimen for Ancillary Techniques

3.4 Challenges in the FNA and CNB of soft Tissue

3.5 Complications of FNA and CNB of soft Tissue

References

Chapter 4: Ancillary Techniques

4.1 Immunocytochemistry

4.2 Immunohistochemistry

4.3 Genetic Techniques

4.4 Grading of soft Tissue Tumors

4.5 Future Investigations of Ancillary Techniques

4.6 Conclusions

References

Chapter 5: Principal Aspects in Fine Needle Aspiration and Core Needle Biopsies

5.1 Normal Tissue

5.2 Cytologic Classification of soft Tissue Tumors Based on the Principal Patterns

5.3 Diagnostic Accuracy of FNA in soft Tissue Tumors

5.4 Smear Composition and the Differential Diagnosis of soft Tissue Tumors

References

Chapter 6: Particular Aspects

6.1 Low-Grade Spindle Cell Tumors

6.2 Tumors with Fibrillary Stroma

6.3 Malignant Spindle Cell Tumors

6.4 Myxoid Tumors

6.5 Atypical Lipomatous Tumors

6.6 Epithelioid Tumors

6.7 Pleomorphic Sarcomas

6.8 Round Cell Sarcomas

References

Further Reading

Index

Copyright © 2011 by John Wiley & Sons, Inc. All rights reserved.

Published by John Wiley & Sons, Inc., Hoboken, New Jersey

Published simultaneously in Canada

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Library of Congress Cataloging-in-Publication Data:

Soft tissue tumors : a multidisciplinary, decisional, diagnostic approach / edited by Jerzy Klijanienko, Real Lagace.

p. ; cm.

Includes bibliographical references.

ISBN 978-0-470-50571-7 (cloth)

1. Soft tissue neoplasms. I. Klijanienko, Jerzy. II. Lagace, Real.

[DNLM: 1. Soft Tissue Neoplasms. WD 375]

RC280.S66S72 2010

616.99’4075—dc22

2010036846

Foreword

Cytology began with vaginal sampling, and cervical cancer screening programs gradually made the method adopted worldwide.

Diagnostic cytology gained recognition much later, and fine needle aspiration (FNA) cytology initially raised many controversies, hallmarking the disadvantages compared with the open or core biopsy, which was the considered “gold standard.”

Sweden, and the Karolinska Institute in particular, can be considered the cradle of FNA clinical cytology.

Many cytologists, including myself, were trained there and initiated into the management of the sampling in the one-day clinic, examining the patient, reading the clinical chart, and dialoguing with the radiologist.

Nowadays the diagnostic needs of the clinician, and moreover the oncologist, have dramatically increased. There is no more room for just prototypic diagnoses.

Benign versus malignant is no longer enough. Suspicion is banned.

We moved from a contemplative era of morphology to an interpretive era of diagnosis incorporating clinical, epidemiological, and radiological aspects for and against the cytologic criteria.

Medical oncologists ask more information than just morphology for cancer-targeted therapy planning. We enter now into the new era of molecular diagnosis with the detection of recurrent chromosome translocations, imbalances, losses, gain, or amplifications specific to histologic types or clues of individual response to adjuvant therapy and outcome, which are even “stronger” than histological typing.

Molecular methods applied on cytological sampling or microbiopsy are becoming increasingly important for initial diagnosis prior to neoadjuvant, nonsurgical therapy, and the combination of molecular biology with metaphase or interphase cytogenetics is imperative in the integrated diagnosis. Therefore, cytology can contribute to individualizing diagnosis through these molecular analyses.

Fine needle aspiration cytology of mesenchymal lesions is not yet as widely accepted for epithelial lesions, and debate persists on its predictive value and accuracy in subtyping and grading sarcomas. One major drawback is the inexperience of most cytopathologists in the field of soft tissue tumors.

This monograph is addressed to a wide readership of medical specialists (radiologists, medical oncologists, surgeons, biologists, young doctors in training, and of course cytopathologists). Because of the rarity and the apparent complexity of the topic, many surgical pathologists are reluctant to be concerned by this issue. Most of their adverse judgments may be avoided while reading this monograph, which makes FNA patterns in soft tissue seem not that difficult.

This monograph does not compete with well-known and largely recognized classic textbooks dealing with soft tissue tumors (Enzinger and Weiss, WHO fascicule, and others); this book rather must be perceived as a useful original supply in this pathology providing information otherwise unavailable or difficult to locate in a user-friendly format.

The authors with North American or European background (France, Greece, Sweden, USA, and Canada) reflect widely accepted international viewpoints; they founded their expertise on their published research data on new entities and emerging methodologies. They based their long-lasting practice on material collected for half a century in dedicated reference centers such as the Institut Curie in Paris and l’Hôtel-Dieu in Québec City.

The authors aim to cover the diagnostic areas where FNA is feasible today in soft tissue lesions. This includes palpable lesions and lesions sampled using various radiological methods. Correlations with mandatory ancillary techniques are detailed.

This book proposes a new horizon in the diagnosis of soft tissue tumors, putting forward how to obtain an optimal approach for diagnosis in the multidisciplinary team.

The contents are logically organized with the first chapters addressing the utility of clinical history, patient’s age, site, and size of the tumor, which are essential in the differential diagnoses; the advantages of an organized multidisciplinary team are emphasized by integrating the clinical data, the radiological features, and the morphological pattern.

Precious advice for obtaining optimal material is developed in the technical chapters. The authors offer to teach a diagnostic method of approach that optimizes health care. Complete decisional trees concerning radiology, FNA, core needle, and immunocyto/histochemistry are proposed; weak points are stressed, errors are analyzed, and troubleshooting is proposed.

The basics of morphologic patterns are then reviewed focusing on the results of optimal nonsurgical sampling in offering opportunities for conventional cytology and histology as well for immunostaining and molecular techniques.

Sampling by FNA or core biopsy is less invasive than open biopsy (violation of anatomical compartments, tissue displacements, and vascular emboli). First line mutilating surgery or open biopsy imperatively submits the patient to delayed healing and histological diagnosis.

Risk of tumor seeding within the needle track is a scarecrow.

FNA cell-rich material (usually l0–20 millions cells through one needle pass) is in many cases much better than microbiopsy for molecular techniques: “cell by cell” analysis for fluorescent in situ hybridization (FISH) and “sorted” tumor cells by fluorescence immunophenotyping (FICTION).

The future is definitely in “small sampling” through both FNA and core for microbiology and molecular genetics.

Obtaining FNA one-day diagnosis allows initial fast treatment while waiting for definitive pathological and genomic results, which is extremely important in pediatric round cell sarcomas/blastematous tumors.

Even if some entities may have a surprisingly characteristic morphology allowing an accurate cytologic typing (like myxoid liposarcoma and synovial sarcoma), identification of translocations and oncogene mutations are requested in several tumor types. Specific molecular findings are detected by reverse transcriptase PCR or ISH. In situ hybridization (ISH) is based on morphology by direct microscopic visualization of probe-specific intranuclear signals. The method allows a targeted detection of genetic aberrations in the nondividing nucleus. The FISH can be applied to isolated cells from aspirated fluids, intraoperative smears, cell cultures, or paraffin-embedded and frozen tissue blocks. PCR and ISH are complementary methods, and optimal diagnostic accuracy can be reached when both are available.

In the two last chapters, all differential diagnoses and pitfalls of a wrong or unlikely diagnosis are reviewed entity by entity.

For a practical point on the benchmark, the chapters of entities were grouped following a predominant cell pattern and not an academic classification, which is based on the putative tissue origin; all these facilitate the diagnosis on small tissue volume. For these reasons, some entities, like MPNST or leiomyosarcoma, may be shown in both low-grade and high-grade chapters. All groups of tumors are supported by a complete bibliography hallmarking, for example, that low-grade tumors (like schwannoma, fibromyxosarcoma, and leiomyosarcoma) being benign or malignant may have identical surgical management—the diagnosis of low-grade tumor allows for “prepared” surgery in good conditions.

This monograph supplemented by numerous high-quality morphology illustrations of both FNA and core needle, will become a precious guide to the cytopathologist in eliminating all the incompatible, improbable, possible diagnoses and in retaining only the likely one.

Alain Verhest, MD, PhD, FIAC

Past President of the International Academy of Cytology

Former Head of the Department of Pathology, Cytology & Cytogenetics

Institut Jules Bordet, Cancer Center of the Untversité Libre de Bruxelles, Belgium

Preface

The purpose of this monograph is to highlight a multidisciplinary approach to soft tissue tumors, based on the combined experience of European and North American clinicians, radiologists, biologists, surgical pathologists, and cytopathologists. It does not have the pretention to cover the wide field of mesenchymal neoplasms and pseudotumors, which is very adequately provided in the well-known classic textbooks. Clinical presentation as well as epidemiology and the importance of a precise diagnosis are presented from the clinician point of view. A chapter is devoted to the radiologic evaluation, which has evolved during the past half-century, particularly the techniques of computed tomography and magnetic resonance imaging that are essential in the diagnosis/decisional trees for pathological sampling and the staging of malignant neoplasms. Special emphasis is given to cytological study of specimens of both fine needle aspiration (FNA) biopsy and core needle biopsy (CNB) because the material that forms the basis of the present book has been collected from the cytopathology files of Curie Institute, Paris. In the last decades, FNA and CNB have been recognized as useful tools in the primary diagnosis of soft tissue tumors. Accordingly, a chapter deals with the optimal methodologies to obtain representative diagnostic material, as well as the advantages and disadvantages of FNA versus CNB.

Ancillary studies such as immunohistochemistry, cytogenetics, and molecular biology are discussed in general chapters, because they are essential to diagnosis in several malignant entities. Given the limitations and the pitfalls of grading malignant soft tissue tumors, the rules for obtaining the highest performance and the reproducibility of the systems are discussed as are the controversies in the literature regarding the grading with aspirates and core needle biopsy specimens. The second part of the monograph deals with different tumors entities that have been grouped according to their principal morphological pattern of presentation, namely low-grade spindle cell, tumors with fibrillary stroma, malignant spindle cell, myxoid, lipomatous, epithelioid, pleomorphic, and round cell.

Nowadays, highly specialized centers with targeted clinical consultations and performant radiological technical plateau adapted to small biopsy consultation, performed either by the radiologist or the pathologist, are habilitated to diagnose and consequently treat most of these tumors. It also allows access to suitable material for cytogenetic and molecular biology investigations, using procedures as less invasive as possible, which preserve an eventual noncontaminated surgical field or the tumor integrity, and that permit radiological monitoring in the follow-up of a given tumor treated by neoadjuvant, nonsurgical procedure.

Since 1920, at Institut Curie, Paris, France, the clinical experience in the diagnosis and management of soft tissue tumors has been recognized. For decades, performant radiological evaluation for both pediatric and adult neoplasias has assessed FNA and CNB performed on-site diagnosis by pathologists in day-to-day practice, which allowed for constituting a large archival collection of mesenchymal neoplasms, both for cytology and for correlation with corresponding histology. Facilities in cytogenetics and molecular biology are of valuable help for reaching a precise diagnosis. The data from different investigations along with discussions in multidisciplinary meetings have resulted in optimal patient management. Different diagnostic approaches based on standardized decisional trees have been developed in cooperation with major Parisian hospitals.

We hope that this book will be a good complement to other publications on the same topic and that it is addressed to all those members of multidisciplinary teams concerned with the diagnosis and management of soft tissue tumors.

Jerzy Klijanienko

Réal Lagacé

Acknowledgments

To my mother – Teresa Pienkowska, MD, PhD and to Marie, Julie and Alice.

I wish to express my appreciation to my colleagues of the Pathology, Radiology, Clinical Oncology, and Pediatrics departments at the Institut Curie; to Dr. Philippe Vielh, former head of the Cytopathology Unit; to Dr. Xavier Sastre-Garau, head of the Department of Pathology who encouraged me in the achievement of this work; to Drs. Paul Fréneaux, Daniel Orbach, Marick Laé, and Vincent Servois, my colleagues of “every day oncology practice” who are strongly involved in the diagnosis of pediatric and adult soft tissue tumors; and to Pr. Jean-Michel Zucker, retired head of Department of Pediatric Oncology. For many years, he was the leader in the introduction of the fine needle technique in the diagnosis of solid pediatric tumors.

Many thanks also to Dr. Antoine Zajdela, former head of Cytopathology Unit at the Institut Curie and a pioneer of Clinical Cytology in France, for collecting a large series of aspirates in connective tissue tumors since 1954. Special acknowledgments go to Drs. Jean-Michel Caillaud, Paris, Svante R Orell, Southern Australia, and Olivier Mir, Paris, for discussions and help in the redaction of this monograph. The contributions of Mrs. Véronique Marck and Eliane Padoy, cytotechnicians, as well as of Patricia Le Mouel for her help in typing and of Mr. Pierre Laborde, Institut Curie, are also greatly acknowledged.

Jerzy Klijanienko

To my wife Jacqueline, children and grandchildren

I express my deep gratitude to Dr. Philippe Vielh, Institut Gustave Roussy, Paris, and former head of The CytopathologyUnit at Institut Curie, who kindly invited me to spend a sabbatical year at Institut Curie, Paris, and guided my candidature to obtain a Mayant-Rotschild award as a visiting professor in 1999–2000. I had the privilege to be initiated by Dr. Alain Aurias and Josette Derré, INSERM U830, into the fascinating novel insights of molecular cytogenetics. I also wish to express my appreciation to Dr. Xavier Sastre-Garau and his staff surgical pathologists who welcomed me in their service to share the interpretation of interesting and problematic cases. Over the years of my professional activity at l’Hôtel-Dieu de Québec, Québec city, Canada, colleagues and residents have forwarded me many bone and soft tissue cases, which enhanced my interest and experience for these lesions. Special thanks also to Dr. Sébastien Labonté and Mrs. Louise Tremblay, Department of Anatomical Patholoy, University Hospital-Hôtel-Dieu de Québec, for their contribution to the final sprint of this monograph.

I thank all of you!

Réal Lagacé

Contributors

Carlos Bedrossian, MD, PhD (Hon)

Professor of Pathology

Rush University Medical College

Medical Director

Biomedical Concepts

Medical Arts Building

715 Lake St., Ste 302

Oak Park, IL 60301, USA

Hervé Brisse, MD, PhD

Senior Radiologist, in charge of Pediatric Radiodiagnosis at the Institut Curie

Institute Curie, Radiodiagnostic

26 rue d’Ulm

75248 Paris cedex 05, France

Jérôme Couturier, MD

Head of Cytogenetics Unit, Institut Curie

Institut Curie

26 rue d’Ulm

75248 Paris cedex 05, France

Henryk A. Domański, MD, PhD

Coordinator of the Cytology Service

University and Regional Laboratories Region Skåne

Department of Pathology

Lund University Hospital

Pathologie

S-221 85 Lund, Sweden

François Goldwasser, MD, PhD

Assistant Professor, Medical Oncologist

Paris Descartes University

Hôpital Cochin, Paris

Hôpital Cochin

27 rue du Faubourg Saint Jacques

75679 Paris cedex 14, France

Jerzy Klijanienko, MD, PhD, MIAC

Senior Surgical Pathologist and Medical Oncologist, in charge of Clinical

Cytopathology at the Institut Curie

Institut Curie, Pathologie

26 rue d’Ulm

75248 Paris cedex 05, France

Réal Lagacé, MD, FRCPC

Emeritus professor of Pathology, Laval University

Centre Hospitalier Universitaire de Québec, Québec, Canada

11 Côte du Palais

Québec G1R 2J6, Canada

Stamatios Theocharis, MD, PhD

Assistant Professor

Department of Forensic Medicine and Toxicology

University of Athens, Medical School

75, Mikras Asias Street, Goudi

Athens, Greece, GR 11527

Chapter 1

Clinical Approach in Soft Tissue Tumors

François Goldwasser

1.1 EPIDEMIOLOGY

Sarcomas are rare malignant tumors that originate from mesenchymal tissue at any body site. Soft tissue sarcomas comprise approximately 1% of malignant tumors [1,2]. There are more than 50 subtypes, pleomorphic sarcoma, liposarcoma, leiomyosarcoma, synovial sarcoma, and malignant peripheral nerve sheath tumor accounting for 75% of the cases. Roughly speaking, 80% of sarcomas originate from soft tissues, whereas the remainder are from bones. More than 10,000 new cases are diagnosed each year in the United States [1,2]. They account for 0.72% of all cancers diagnosed annually, whereas they represent 7% of all cancers in children. In Europe, similar data are reported with almost 8% of neoplasms in children, and almost half of them being less than 5 years of age at diagnosis [3]. Between 1988 and 1997, the age-standardized incidence of soft tissue sarcomas in Europe was 9.1 per million children, with a lower range of affected patients in the western and eastern parts of the continent and a higher one in the northern. The annual incidence is 30 per million [3].

Most soft tissue sarcomas occur in adults older than 55 years. Approximately 50% of bone sarcomas and 20% of soft tissue sarcomas are diagnosed in people younger than 35 years. The gastrointestinal stromal tumor (GIST), the frequency of which has been underestimated, is the most common form of soft tissue neoplasm. Its incidence, prevalence, and clinical aggressiveness also have been underestimated [4]. More recent experience from epidemiologic studies and active GIST therapeutic trials suggest that the annual incidence of GIST in the United States is at least 4000 to 6000 new cases (roughly 7 to 20 cases per million population per year) [4]. Some sarcomas, such as leiomyosarcoma, chondrosarcoma, and GIST are more common in adults than in children. Only approximately 500 thigh liposarcomas are diagnosed per year in the United States compared with more than 212,900 adenocarcinomas of the female breast. Thus, the number of adenocarcinomas originating in one anatomic site in women exceeds by almost 500-fold the number of thigh liposarcomas and is 22-fold higher than the total number of soft tissue sarcomas of all pathological varieties, at all anatomical sites, in all age groups, and in both genders.

Most high-grade bone sarcomas, including Ewing sarcoma/peripheral neuroectodermal tumor and osteosarcoma, are much more common in children and young adults. Among children, soft tissue sarcomas are two times more common in Caucasians than in African Americans. Rhabdomyosarcoma is the most frequent childhood soft tissue sarcoma (50%). Population-based data from Connecticut covering the years 1935–1989 have shown an increased incidence of soft tissue sarcomas in both genders, with men being more affected than women. The recent increase of acquired immune deficiency syndrome–related Kaposi sarcoma does not explain the upward trend in soft tissue sarcoma, dating back decades. A similar trend was found in a population-based study including 5802 cases of soft tissue sarcomas in children aged 0–14 years, which was extracted from the database of the Automated Childhood Cancer Information System (ACCIS) and registered in population-based cancer registries in Europe for the period 1978–1997. The incidence of soft tissue sarcomas in children increased by almost 2% per year during the period 1978–1997 as a result of the higher incidence of genitourinary rhabdomyosarcoma [3]. In most cases of soft tissue sarcomas, precise etiology is unknown, although several associated or predisposing factors have been identified, including environmental, physical, biological, and chemical factors.