Tumors of the Fetus and Infant

Transcription

1 Tumors of the Fetus and Infant

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3 Hart Isaacs, Jr Tumors of the Fetus and Infant An Atlas Second Edition

4 Hart Isaacs, Jr Department of Pathology Rady Childrens Hospital San Diego University of California San Diego School of Medicine San Diego, CA USA ISBN ISBN (ebook) DOI / Springer Heidelberg New York Dordrecht London Library of Congress Control Number: Springer-Verlag Berlin Heidelberg 2013 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, speci fi cally the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on micro fi lms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied speci fi cally for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a speci fi c statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (

5 The new-born infant brings with it into the world, not the tumour, but merely the superabundant cell-material, and from the latter, if circumstances be favorable, a tumour may grow later on. London, 1889 Julius Cohnheim

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7 To my family, without whose support this atlas would not have been possible.

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9 Preface to the Second Edition In the near decade since the fi rst edition, there has been a great increase in basic studies on fetal and infant pathology. Newer diagnostic methods especially in imaging and molecular biology have led to the diagnosis of an increasing number of tumors in this age group. This revised, abundantly illustrated second edition of Tumors of the Fetus and Infant : An Atlas presents an up-to-date account of the clinical and pathological features of neoplastic disease and tumorlike conditions in the fetus and infant and discusses tumor studies and cases from the international literature. The full range of tumors is covered, with each chapter reviewing the incidence, clinical fi ndings, cytogenetics, pathology, radiology, treatment, and prognosis. The ultimate goal is to enable pathologists and clinicians to gain a clear understanding of these lesions so that a correct diagnosis can be achieved and appropriate treatment initiated. ix

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11 Preface to the First Edition The atlas attempts to bring together in a simple and clear fashion the wealth of information that is presently available concerning neoplasia in the young. The purpose of the atlas is to present a concise account of the clinical and pathological features of neoplastic disease and tumor-like conditions in the fetus and infant. It is not meant to be an encyclopedic work but instead a survey of the fi eld supplemented by plentiful illustrative material. The incorporation of a generous bibliography is intended to help those who are interested in extended reading and who would like to have an easy access to the references of the original sources. Most of the material on which the Atlas is based is largely a product of the author s experience as a pediatric pathologist for over four decades. Throughout I have used my own material as fully as possible and have introduced accounts of personally studied cases supplemented by ones from other colleagues illustrative of the subjects under discussion. For the same reason, the author has made frequent reference to his own published articles and to his earlier publications, Tumors of the Fetus and Newborn, the chapter Tumors in Potter s Pathology of the Fetus and Infant and Tumors of the Fetus and Infant : An Atlas, First edition (Refs. 1 4 of Chap. 1), the contents of which in many ways supplement that of the present work. Most illustrations and tables have been produced from personally studied material while others were taken, by permission, from various articles appearing in the literature. The Atlas is addressed primarily to pathologists, but I am not without hope that clinicians, residents, and medical students in both pathology and other medical specialties may fi nd it useful and bene fi cial as a concise, easy to use, quick ready reference source and a valuable teaching aid. xi

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13 Acknowledgments My grateful thanks are due to my colleagues and friends who have assisted me in various ways during the preparation of this book. To all who have allowed me to use illustrations from their published work and the publishers of journals and books from which they have been produced. Particular thanks are due to Drs. Henry Krous, Robert Newbury, and Eric Breisch for their continual encouragement and support. The help given me by Ann Peters with the electron photomicrographs has been invaluable. I want also to acknowledge my publishers for their helpfulness in the preparation and production of this atlas. Hart Isaacs, Jr, M.D. xiii

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15 Contents 1 General Survey General Survey Incidence Tumors Occurring in Patients with Congenital Malformations and Syndromes... 3 References Germ Cell Tumors Introduction Cytogenetics Teratoma Clinical Findings Pathology Fetus-in-Fetu Prognosis Yolk Sac Tumor Gonadoblastoma Embryonal Carcinoma Polyembryoma Dysgerminoma and Choriocarcinoma References Non-Germ-Cell Gonadal Tumors Introduction Leukemic Infiltration of the Infant Testis Follicular Cysts of the Ovary Juvenile Granulosa Cell Tumor Sertoli-Leydig Cell Tumors References Soft Tissue Tumors Introduction Vascular Conditions Hemangioma Capillary Hemangioma Cavernous Hemangioma Infantile Kaposiform Hemangioendothelioma Tufted Angioma Malignant Vascular Tumors Lymphangioma Vascular Malformations xv

16 xvi Contents 4.3 Fibrous Connective Tissue (Myofibroblastic) Tumors Fibromatosis Gardner Fibroma Digital Fibromatosis (Recurring Digital Fibroma) Torticollis Myofibromatosis Granular Cell Tumor Fibrous Hamartoma of Infancy Giant-Cell Fibroblastoma Infantile (Congenital) Fibrosarcoma Nodular (Proliferative) Fasciitis Cranial Fasciitis Inflammatory Myofibroblastic Tumor Fibrohistiocytic Tumors Fibrous Histiocytoma Angiomatoid Fibrous Histiocytoma Juvenile Xanthogranuloma Skeletal Muscle Tumors Rhabdomyoma Rhabdomyosarcoma Rhabdoid Tumor Adipose Tissue Tumors Lipoblastoma Peripheral Nervous System Tumors Neurofibroma Primitive Neuroectodermal Tumor (PNET) Melanotic Neuroectodermal Tumor of Infancy Miscellaneous Soft Tissue Tumors Triton Tumor Polyphenotypic Small Cell Tumor References Tumors and Tumor-Like Conditions of the Skin Introduction Vascular Conditions Hemangioma Macular Stains Syndromes Associated with Vascular Conditions Hemangioma Variants Lymphangioma Epidermal Birthmarks Epidermal Nevus Becker s Nevus (Becker s Melanosis) Sebaceous Nevus Cutaneous Hamartomas Smooth Muscle Hamartoma Nevus Lipomatosus Melanocytic Nevi Pigmented Nevus Giant Congenital Melanocytic Nevi Malignant Melanoma Neurocutaneous Melanosis

17 Contents xvii 5.6 Neurofibromatosis Tuberous Sclerosis Infantile Digital Fibromatosis Fibrous Hamartoma of Infancy Papilloma Tumors and Tumor-Like Infiltrations of the Skin Leukemia Neuroblastoma Langerhans Cell Histiocytosis Juvenile Xanthogranuloma Rhabdomyosarcoma Rhabdoid Tumor Urticaria Pigmentosa (Mast Cell Disease) References Neuroblastoma Introduction Incidence Clinical Findings Diagnostic Tests Genetic Factors Pathology Spontaneous Regression Neuroblastoma In Situ Ganglioneuroma Prognosis References Leukemia Introduction Incidence Hematopoiesis Clinical Features Leukemia Occurring in Infants with Chromosomal Anomalies, Syndromes, and Malformations Differential Diagnosis Diagnosis of Leukemia Pathology Prognosis References Histiocytoses Introduction Ontogeny of the Monophagocytic System Classification of Histiocytoses Dendritic Cell Disorders Langerhans Cell Histiocytosis Juvenile Xanthogranuloma Macrophage-Related Disorders Hemophagocytic Syndromes Sinus Histiocytosis with Massive Lymphadenopathy Malignant-Related Disorders Malignant Histiocytoses Acute Monocytic Leukemia

18 xviii Contents 8.7 Prognosis References Brain Tumors Introduction Incidence Association of Brain Tumors with Heritable Disorders and Other Conditions Clinical Findings Pathology Cytogenetics Teratoma Astrocytoma Primitive Neuroectodermal Tumors Medulloblastoma Cerebral PNET Gangliocytoma Ganglioglioma Infantile Desmoplastic Ganglioglioma Ependymoma Choroid Plexus Papilloma Choroid Plexus Carcinoma Oligodendroglioma Craniopharyngioma Atypical Teratoid/Rhabdoid Tumor Medulloepithelioma Meningioma Vascular Malformations of the Brain Prognosis for Infants with Brain Tumors Miscellaneous Craniofacial Anomalies References Tumors of the Eye Retinoblastoma Cytogenetics Clinical Findings Differential Diagnosis Spontaneous Regression Pathology Prognosis Trilateral Retinoblastoma Medulloepithelioma Astrocytic Tumors of the Retina Neurofibromatosis Optic Glioma Orbital Tumors References Renal Tumors Introduction Wilms Tumor Pathology Nephrogenic Rests and Nephroblastomatosis Congenital Mesoblastic Nephroma Pathology

19 Contents xix 11.5 Rhabdoid Tumor of the Kidney Pathology Clear Cell Sarcoma of the Kidney Pathology Cystic Conditions of the Kidney Ossifying Renal Tumor of Infancy References Liver Tumors Introduction Hemangioma Mesenchymal Hamartoma Hepatoblastoma Primary Sarcomas of the Liver Germ Cell Tumors Liver Cell Adenoma and Focal Nodular Hyperplasia Miscellaneous Tumors and Tumorlike Conditions References Adrenocortical Tumors Introduction Incidence Clinical Findings Adrenal Cortical Adenoma Adrenocortical Carcinoma Adrenal Cortical Hyperplasia Congenital Adrenal Cortical Hyperplasia Associated with Adrenogenital Syndrome Clinical Findings Pathology Adrenocortical Hyperplasia Associated with Cushing s Syndrome Clinical Findings Pathological Findings Adrenal Cortical Cytomegaly Adrenal Cyst References Pancreatic Tumors Introduction Endocrine Tumors and Tumorlike Conditions of the Pancreas Hypertrophy and Hyperplasia of the Islets of Langerhans Nesidioblastosis, Nesidioblastoma Persistent Hyperinsulinemic Hypoglycemia of Infancy Islet Cell Adenoma Exocrine Tumors and Tumorlike Conditions of the Pancreas Adenoma and Cystadenoma Adenocarcinoma Pancreatoblastoma Miscellaneous Tumors and Tumorlike Conditions References Cardiac Tumors Introduction Cardiac Rhabdomyoma

20 xx Contents 15.3 Pericardial and Cardiac Teratoma Cardiac Fibroma Cardiac Myxoma Vascular Tumors Oncocytic ( Histiocytoid ) Cardiomyopathy Miscellaneous Conditions References Salivary Gland Tumors Introduction Sialoblastoma Congenital Pleomorphic Adenoma (Salivary Gland Anlage Tumor) Miscellaneous Salivary Gland Tumors and Tumorlike Conditions References Lung Tumors and Tumor-like Conditions Introduction Inflammatory Pseudotumor Fibromatoses (Myofibromatoses) Vascular Conditions Congenital Pulmonary Cystic Diseases Congenital Cystic Adenomatoid Malformation Laryngotracheal Papilloma Congenital Pulmonary Myofibroblastic Tumor Pleuropulmonary Blastoma Skeletal Muscle Tumors Peripheral Neuroectodermal Tumor of Thoracopulmonary Origin References Tumors and Tumor-Like Conditions of Bones Introduction Chest Wall Hamartoma Nasal Chondromesenchymal Hamartoma Fibrous Dysplasia of Bone Enchondromatosis (Ollier s Disease) Congenital Generalized Fibromatosis (Infantile Myofibromatosis) Congenital Fibrosarcoma Ewing s Sarcoma Miscellaneous Conditions References Index