Pediatric Bone Marrow PDF
Preview Pediatric Bone Marrow
1.Penchansky Pediatric BoneMarrow Springer-Verlag Berlin Heidelberg GmbH Lila Penchansky • • Pe la rle Bo e Marrow With 356 Figures in 530 Separate Illustrations, Mostly in Color " Springer Professor LI LA PENCHANSKY, MD Department of Pathology BST S495 School of Medicine University of Pittsburgh Pittsburgh, PA 15261 USA ISBN 978-3-642-62296-0 Library of Congress Cataloging-in-Publication Data Penchansky, Lila. Pediatric bone marrow I Lila Penchansky. p.;cm. Includes bibliographical references and index. ISBN 978-3-642-62296-0 ISBN 978-3-642-18799-5 (eBook) DOI 10.1007/978-3-642-18799-5 1. Bone marrow-Diseases-Diagnosis. 2. Children-Diseases-Diagnosis. 3. Leukemia in children Diagnosis. 4.P ediatrics. l. Title. [DNLM: 1. Bone Marrow Diseases-diagnosis-Child. WH 380 P397P 2004J RC645·7.P4652004 618.92'41-dc22 2003057314 This work is subject to copyright. Ali rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, re citation, broadcast ing, reproduction on microfilms or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permis sion for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under the German Copyright Law. springeronline. com © Springer-Verlag Berlin Heidelberg 2004 Originally published by Springer-Verlag Berlin Heidelberg New York in 2004 Softcover reprint of the hardcover 1st edition 2004 The use of general descriptive names, registered names, trademarks, etc. in this publicat ion does not imply, even in the absence of a specific statement, that such names are exempt from the relevant pro tective laws and regulations and therefore free for general use. Product liability: The publishers cannot guarantee the accuracy of any information about the appli cation of operative techniques and medications contained in this book. In every individual case the user must check such information by consulting the relevant literature. Cover design: Erich Kirchner, Heidelberg Typesetting and reproduction of the figures: AM-productions GmbH, Wiesloch Printed on acid-free paper 543210 To ALL THE CHILDREN WHO TAUGHT ME ALL I KNOW ABOUT THEIR BONE MARROW Preface As a medical student I found Pediatrics to be one of the most enjoyable courses.Theability ofthe childrentohealandthe speed ofthe process fasci nated me.Onthe otherhand,blooddisorders wereparticularlypuzzlingfor me.Thepossibilityofstudyingbothsubjects byconcentratingonthepathol ogy of the bone marrow in children led me to specialize in that area. This TextAtlassummarizesmy35years ofexperienceinthe field.Itdoes not pre tend to coverevery disorder ofthe bone marrowin children,but provides a guide to the diagnosis ofhematologicdisorders that requireexamination of the bone marrowin common disorders and their morphological variations, aswellasrare disorders. It is commonly said that "a picture is worth a thousand words;' but for picturestohaveameaningthey need tobe interpreted.The numerous illus trations presented here, often together with the clinical information and hematologic data, are intended to provide images representing specific dis ordersinagivensetting. Theyareallexamples from mypersonalexperience in the field at the Children's Hospital of Pittsburgh and my consultations files,exceptforafewexamples generouslyprovidedbycolleagues inthe field ofPediatricPathology. Digital images obtainedfrom the original slides havebeen edited to em phasize thepointsofinterestortosummarizeinformationinasingleimage. The references provided at the end of each chapter do not necessarily include every reference in the field.In these computerized days,additional references are found easily,but the ones selected include the most recent or classical references in a specificarea. Often,when the author's experience is similarto the findings ofnumerous publications in the area, no reference is provided,and the findings aretaken tobecommonknowledge. The explosion of new diagnostic methods in recent years has increased our diagnosticcapacityaswellasourunderstandingofthe mechanismsofa large number of hematologic disorders. Technological advances make us thinkattimes that oureyescannotgoasfarastechnology.However,ourclin ical and morphological diagnostic skills have improved by correlating the results ofhighly sophisticated tests with clinical data and morphology.The existing links between technological information and the shape and struc ture ofcellshas been agreat source ofinterestto me and has stimulatedmy return tothe observationofmorphologicaldetails. Special thanks are given to my husband Daniel Russell PhD,for his pa tience and supportduringdifficulttimes and hiscriticalreadingofmyman uscript,makinghim the most pathology-knowledgeable ofFrench teachers, and to my parents Jaime Penchansky and Vera1. de Penchansky,for their lovethat gavemethe strengthto"followastar;'asmymotherused tosay.My thanks alsogoout toVirginia PirrotaMTfor helping me atalltimes and for VIII Preface her hard work throughout our years together at the Children's Hospital of Pittsburgh,to Dr Ronald Jaffefor his critical review ofsome ofthe chapters and forprovidingmewith allthearchival materialIneededtoreviewforthis project, and to Dr Guillermo Gallo,who also reviewed some ofthe chapters. Iam particularlygrateful to Michael E.Sendek, Senior Systems Engineerin the Clinical PathologyInformatics Division ofthe DepartmentofPathology at the University of Pittsburgh,for teaching me all I know about obtaining images and editing them to obtain the desired effect in the computer.I ap preciatehis patienceforallmydemandsandresponse tomycalls.Heisalso responsibleforthe finalstandardformattothe multipleimages.Finally,Iam gratefultoDrGeorgeMichalopoulos,chairmanofthe DepartmentofPathol ogy at the University of Pittsburgh;without his help and support this book would not have been possible,and to Patricia Arndt for all her secretarial help.Icannotthankbyname allthecolleagues,technicians,and supportper sonnelwho helped me during the years because the list would be too long, but I thank you all for your collaboration with me at the Department of Pathology,University ofPittsburgh,formakingthis bookpossible. LILA PENCHANSKY Contents May-Hegglin Anomaly. ......... 29 CHAPTER I Chediak-HigashiSyndrome 30 NormalBoneMarrow . Alder-ReillyAnomaly.................... 32 OtherMorphologicalAbnormalities ....... 32 References................................. 13 Inherited Immunodeficiency................. 34 ReticularDysgenesis CHAPTER2 (AlymphocyticNeutropenia) 34 InheritedBoneMarrowFailure ............. 15 Q LaboratoryFindings. ................. 34 X-LinkedAgammaglobulinemia Introduction............................... 15 (BrutonAgammaglobulinemia) ... 35 LaboratoryFindings. ................. 35 InheritedHematopoieticSyndromes Q Cartilage-HairHypoplasia. ............... 35 Associatedwith Pancytopenia 15 :::) LaboratoryFindings.................. 35 Fanconi Anemia. ........................ 15 Wiskott-AldrichSyndrome ............... 35 LaboratoryFindings.................. 16 Q LaboratoryFindings.................. 36 Q DyskeratosisCongenita .................. 18 OmennSyndrome. ...................... 36 LaboratoryFindings. ................. 18 Q LaboratoryFindings .................. 36 Shwachman-DiamondSyndrome.......... 18 Q LaboratoryFindings. ................. 18 InheritedSideroblasticAnemias 36 Q CongenitalAmegakaryocytic Q LaboratoryFindings. ................. 37 Thrombocytopenia. ..................... 19 8-AminolevulinateSynthase (ALAS2) LaboratoryFindings. ................. 19 Deficiency.............................. 38 Q Rare FamilialMarrowFailure Syndromes... 19 PearsonSyndrome 38 Osteopetrosis ........................... 38 InheritedHematopoieticSyndromes LaboratoryFindings.................. 39 Associated with Single Cytopenia. ............ 19 Q Diamond-Blackfan Anemia..... .......... 19 References. ................................ 41 LaboratoryFindings .................. 19 Q CongenitalDyserythropoieticAnemias. ....... 20 CHAPTER3 SevereCongenital Neutropenia 24 Macrophage-and Dendritic-Cell-Related LaboratoryFindings.................. 24 Q DisordersIncludingthe Lysosomal CyclicNeutropenia ...................... 27 StorageDisorders......................... 47 LaboratoryFindings .................. 27 Q ChronicBenign Neutropenia.............. 28 Introduction............................... 47 Thrombocytopeniawith Absent Radii. ..... 28 LaboratoryFindings. ................. 28 Storage Disorders 48 Q GaucherDisease 48 InheritedDisorders ofthe Leukocytes LaboratoryFindings. ................. 48 Q Associatedwith Change in theirMorphology... 29 Niemann-PickDisease. .................. 50 Pelger-Hiiet Anomaly. ................... 29 LaboratoryFindings.................. 50 Q X Contents Wolman Disease 52 FabryDisease 52 CHAPTER5 BoneMarrowMetastases.................. 101 Sialidoses 52 GangliosidosisGMtandGM2............... 53 Introduction............................... 101 Fucosidosis............................. 53 LaboratoryFindings. ................. 102 U-Mannosidosis. ........................ 53 c) Glycogen StorageDiseases................ 54 Neuroblastoma 104 Mucopolysaccharidosis 54 LaboratoryFindings. ................. 112 c) Cystinosis. ............................. 55 Rhabdomyosarcoma. ....................... 115 PrimaryHyperoxaluria 55 LaboratoryFindings. ................. 118 Sea-blueHistiocytosis 55 c) Ewing FamilyofTumors 119 Histiocytosis 57 LaboratoryFindings. ................. 119 LangerhansCellHistiocytosis 59 c) c) LaboratoryFindings. ................. 61 DesmoplasticSmall Round-Cell Tumor. ....... 121 Xanthoma Disseminatum 62 CentralNervousSystem..................... 123 Macrophage-RelatedDisorders. .............. 64 LaboratoryFindings. ................. 123 c) HemophagocyticSyndrome .... .......... 64 OtherMetastaticTumors .................... 125 LaboratoryFindings. ................. 68 c) References. ................................ 129 References................................. 68 CHAPTER6 CHAPTER4 HematologicManifestationsofTrisomy21 .. 133 BoneMarrowInfections 71 Introduction. .............................. 133 Introduction. .............................. 71 LaboratoryFindings. ................. 133 c) Infection-Associated Acute MegakaryoblasticLeukemia (FABM7) ... 139 HemophagocyticSyndrome 72 Introduction 139 Granulomas . 72 LaboratoryFindings.................. 139 c) Cytochemistry BacterialInfections . 72 and Immunocytochemistry............... 142 Mycobacteria . 75 ElectronMicroscopy. .................... 145 Ehrlichiosis . 77 CytogeneticandMolecularGenetics. ...... 145 Fungus ................................... 77 References. ................................ 147 Viruses. ............ 80 HumanParvovirusB19................... 81 Epstein-Barr-Virus. ..................... 85 CHAPTER7 Cytomegalovirus........................ 88 MyelodysplasticSyndromes 151 HumanImmuneDeficiencyVirus 89 HumanHerpesvirusType 6. .............. 92 Myelodysplastic OtherViruses........................... 94 andMyeloproliferativeDisorders. ............ 151 Parasites. ................................. 95 Introduction............................... 151 Malaria................................ 95 MyelodysplasticSyndromes 152 OtherParasites 96 JuvenileMyelomonocyticLeukemia 152 References................................. 97 LaboratoryFindings. ................. 153 c) Monosomy7Syndrome .................. 156 UnclassifiableMyelodysplasticSyndromes.. 158 Contents XI MDSsthat Fitthe FAB Classification in Children 159 CHAPTER 9 AcuteLymphoblasticLeukemia c:> LaboratoryFindings. ................. 161 and Lymphoma 215 MyeloproliferativeDisorders 162 ChronicMyelogenousLeukemia 162 Introduction. .............................. 215 c:> LaboratoryFindings. ................. 163 Acute Lymphocytic LeukemiaI ChronicNeutrophilicLeukemia ........... 167 LymphoblasticLymphoma 216 PolycythemiaDisorders.................. 168 c:> LaboratoryFindings. ................. 216 PolycythemiaVera 168 c:> LaboratoryFindings. ................. 168 Minimal ResidualDisease 237 EssentialThrombocythemia .............. 169 Lymphomas ............................... 237 c:> LaboratoryFindings. ................. 169 Non-Hodgkin Lymphomas 238 HypereosinophilicSyndromeI Large-CellLymphomas 238 ChronicEosinophilicLeukemia ........... 170 Anaplastic Large-CellLymphoma 239 c:> LaboratoryFindings .................. 172 c:> LaboratoryFindings. ................. 239 Systemic Mastocytosis ................... 173 HodgkinLymphoma 241 Laboratory Findings.................. 174 c:) c:> LaboratoryFindings.................. 241 References................................. 176 References................................. 243 CHAPTER8 AcuteMyeloidLeukemia................... 179 CHAPTER 10 Anemias.................................. 247 Introduction. .............................. 179 Introduction 247 AcuteMyelogenousLeukemia. ............... 180 MicrocyticAnemias 249 c:> LaboratoryFindings. ................. 180 IronDeficiencyAnemia .................. 249 AcuteMyeloid Leukemia c:> LaboratoryFindings 249 with MinimalDifferentiation (FAB Mo) 182 MacrocyticAnemias........................ 252 AcuteMyeloid Leukemia B12andFolicDeficiency.................. 252 withoutMaturation (FAB M1)................ 184 c:> LaboratoryFindings.................. 252 Acute Myeloid Leukemiawith Maturation NormocyticAnemias. ...................... 254 (FAB M2). ................................. 185 HemolyticAnemias 255 AcutePromyelocyticLeukemia(FAB M3) 189 HereditaryHemolyticAnemias 258 Acute MyelomonocyticLeukemia (FAB M4).... 195 Red Blood CellMembrane Disorders. ...... 258 HereditarySpherocytosis 258 Acute MonoblasticLeukemia(M5)............ 198 c:> LaboratoryFindings.................. 259 AcuteErythroleukemia(M6) 201 HereditaryElliptocytosisSyndromes 261 c:> LaboratoryFindings. ................. 262 AcuteMegakaryoblastic Leukemia (M7) 203 OtherInheritedDisorders Acute BasophilicLeukemia .................. 203 ofthe Red-Cell Membrane 264 Minimal Residual Disease ........ 205 Hereditary Anemias Due to HemoglobinAbnormalities 264 Therapy-RelatedAcute Leukemia 205 SickleCellAnemia 264 CongenitalLeukemia ............. 207 c:> Laboratory Findings .................. 264 ThalassemiaSyndromes 266 Recurrent ChromosomalAbnormalities ....... 210 ~-Thalassemias ......................... 268 AcuteLeukemiaofAmbiguous Lineage........ 211 c:> LaboratoryFindings. ................. 268 Thalassemias ......................... 268 References. ................................ 211 (X-
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