Hematopathology: Genomic Mechanisms of Neoplastic Diseases

364 Pages·2011·7.181 MB·English

by  Bobby L. Boyanton Jr, Jennifer R. Rushton MD (auth.), Domnita Crisan (eds.)

Molecular and Translational Medicine
SeriesEditors
WilliamB.Coleman
GregoryJ.Tsongalis
Forfurthervolumes:
http://www.springer.com/series/8176
Domnita Crisan
Editor
Hematopathology
Genomic Mechanisms of Neoplastic Diseases
Editor
DomnitaCrisan
WilliamBeaumontHospital
DepartmentofClinicalPathology
MolecularPathologyLab
3601West13MileRoad
48073-6769RoyalOak,Michigan
USA
[email protected]
ISBN978-1-60761-261-2 e-ISBN978-1-60761-262-9
DOI10.1007/978-1-60761-262-9
SpringerNewYorkDordrechtHeidelbergLondon
LibraryofCongressControlNumber:2010931434
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Idedicatethisbooktomymotherwhogaveme
hergeneforoptimism,tomybravefatherwho
losthislifefightingcommunists,andtomy
husband,Dan,whoofferedhislovingsupport,
withpatienceandenthusiasmduringworkonthis
bookandmyentireprofessionalcareer
Preface
Hematopathology: Genomic Mechanisms of Neoplastic Diseases in the book
series Molecular and Translational Medicine addresses our current knowledge of
genomics as applied to the pathogenesis, diagnosis, prognosis, monitoring, and
targeted therapy of hematologic malignancies. Hematology has been at the van-
guardoftheapplicationofmoleculartechnologiesindiagnosis,classification,risk
stratification,anduseofmolecularlydefinedtherapeutictargets.Theseadvancesin
moleculartechnologies,diagnostics,andgene-relatedtherapyhaveseenanextraor-
dinaryrapidpacesincethecompletionoftheHumanGenomeProject.Hematology
hasintegratedthediscoveriesofgenomiclesionsunderlyinghematologicmalignan-
ciesandappliedthetoolsofmolecularpathology,makingthemessentialinclinical
practice.
The scope of this book is to keep pathologists and clinicians abreast of the
rapid and complex changes in genomic medicine, as exemplified by the molecu-
larpathologyofleukemiasandlymphomas.Thisisatimelyopportunitytonotonly
update physicians on the complexity of genomic abnormalities but also offer an
integrated framework encompassing molecular diagnostics, the new WHO (World
HealthOrganization)classificationofhematologicneoplasmswithfocusonmolec-
ular pathology, prognostic value of molecular tests, and molecular monitoring of
responsetogene-targetedtherapy.
Therapidpaceofdiscovery,theexplosioningenomicinformation,andtheever
changingmoleculartechnologiesmakeitnecessarytoconstantlyupdateourknowl-
edgeandIhopethatthereaderswillusethisbookasapracticalresourceandplace
itnexttotheirmicroscope,intheirlaboratoriesorclinicaloffices.
Thefirsttwochaptersshouldbehelpfulforpracticingpathologistsandforclin-
icians, providing overviews of molecular techniques and cytogenetics, both well
establishedandnew,asusedinmolecularhematology.Chapter3isaconcisereview
of the new 2008 WHO classification, which integrates molecular abnormalities
in the diagnosis of hematologic neoplasms. The following chapters offer compre-
hensive discussions of the molecular pathology of lymphoid and myeloid acute
leukemias, the mature B-cell and T-cell lymphomas, the myeloproliferation neo-
plasms, chronic lymphocytic leukemia, overall representing the major diagnostic
entitiesinneoplastichematology.
vii
viii Preface
ThenewfieldsoftargetedtherapyinhematologicmalignanciesandmicroRNAs
as applied in hematologic malignancies are reviewed in the last two chapters and
offercomprehensivediscussionsofthecurrentstateofthesenovelapproaches.
Iamextremelygratefultoalltheauthorsfortheirexcellentcontributionstothis
book; each chapter is an in-depth and thought-provoking update, as well as easily
readableandpractical.
In a specialty as exciting and rapidly evolving as Molecular Hematology, it is
my hope that this will be just the first of many editions of this book. It will be
interestingandchallengingtoseetheprogressingenomicsinthenextyearsandask
thequestion,QuoVadisHematology?
RoyalOak,Michigan DomnitaCrisan
Contents
1 MolecularTechniquesinHematopathology . . . . . . . . . . . . . 1
BobbyL.BoyantonJr.andJenniferR.Rushton
2 Classical and Molecular Cytogenetic Analysis
ofHematolymphoidDisorders . . . . . . . . . . . . . . . . . . . . 39
MarkA.Micale
3 Using Cytogenetic and Molecular Tests in Diagnostic
WorkupswiththeWHOClassification–2008 . . . . . . . . . . . 79
ClarenceC.Whitcomb
4 Update on the Molecular Pathology
ofPrecursorLymphoidLeukemias . . . . . . . . . . . . . . . . . 103
RobertB.Lorsbach
5 MolecularPathologyofAcuteMyeloidLeukemias . . . . . . . . . 127
KarenP.MannandDebraF.Saxe
6 MolecularPathologyofMatureB-CellandT-CellLymphomas . . 157
SophiaL.Yohe,DavidW.Bahler,andMarshaC.Kinney
7 MolecularPathologyofMyeloproliferativeNeoplasms . . . . . . 215
DavidS.Bosler
8 MolecularPathologyofChronicLymphocyticLeukemia . . . . . 255
DanielaHoehn,L.JeffreyMedeiros,andSergejKonoplev
9 TargetedTherapyinHematologicMalignancies . . . . . . . . . . 293
BarbaraZehnbauerandMonaNasser
10 Micro-RNAsinHematologicMalignancies . . . . . . . . . . . . . 325
MullerFabbriandGeorgeA.Calin
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 341
ix
Contributors
DavidW.Bahler,MD,PhD DepartmentofPathology,UniversityofUtah,Salt
LakeCity,UT,USA
DavidS.Bosler,MD DepartmentofClinicalPathology,ClevelandClinic,
Cleveland,OH,USA
BobbyL.BoyantonJr,MD DepartmentofClinicalPathology,Beaumont
Hospitals,RoyalOak,MI,USA
GeorgeA.Calin,MD,PhD DepartmentsofExperimentalTherapeuticsand
CancerGenetics,UniversityofTexas,M.D.AndersonCancerCenter,Houston,
TX,USA
MullerFabbri,MD DepartmentofMolecularVirology,Immunologyand
MedicalGenetics,TheOhioStateUniversityComprehensiveCancerCenter,
Columbus,OH,USA
DanielaHoehn,MD DepartmentofHematopathology,M.D.AndersonCancer
Center,Houston,TX,USA
MarshaC.Kinney,MD DivisionofHematopathology,UniversityofTexas
HealthSciencesCenter,SanAntonio,TX,USA
SergejKonoplev,MD,PhD DepartmentofHematopathology,M.D.Anderson
CancerCenter,Houston,TX,USA
RobertB.Lorsbach,MD,PhD DepartmentofPathology,UniversityofArkansas
forMedicalSciences,LittleRock,AR,USA
KarenP.Mann,MD,PhD DepartmentofPathologyandLaboratoryMedicine,
EmoryUniversity,Atlanta,GA,USA
L.JeffreyMedeiros,MD DepartmentofHematopathology,M.D.Anderson
CancerCenter,Houston,TX,USA
MarkA.Micale,PhD BeaumontLaboratory,DepartmentofAnatomic
Pathology,BeaumontHospitals,RoyalOak,MI,USA
xi
xii Contributors
MonaNasser,MD DepartmentofClinicalChemistry,SchoolofMedicine,Beni
SuefUniversity,BeniSuef,Egypt
JenniferR.Rushton,MD DepartmentofPathology,BaylorCollegeof
Medicine–BCM315,Houston,TX,USA
DebraF.Saxe,PhD DepartmentofPathologyandLaboratoryMedicine,Emory
University,Atlanta,GA,USA
ClarenceC.Whitcomb,MD DepartmentofPathology,MillerSchoolof
Medicine,UniversityofMiami,Miami,FL,USA
SophiaL.Yohe,MD DepartmentofLaboratoryMedicineandPathology,
UniversityofMinnesotaMedicalCenter,Minneapolis,MN,USA
BarbaraZehnbauer,PhD DivisionofLaboratorySystems,LaboratoryPractice
EvaluationandGenomicsBranch,CentersforDiseaseControlandPrevention,
Atlanta,GA,USA