高超二倍体淋巴细胞白血病淋巴瘤定义与定位.pdfVIP

Blymphoblastcleuaemia/lymphomawihhghhypedploid

Definition

B-lymphoblasticleukaemia/lymphoma(B-ALL/LBL)withhighhyperdiploidyisaneosmof

lymphoblastsofB-celllineagedefinedbyakaryotypecomprising51–65chromosomes,

characterizedbyrecurrent,non-randomgainsofoneormorecopiesofentirechromosomes

(usuallytheXchromosomeandchromosomes4,6,10,14,17,18and21)intheabsenceof

type-defininggenefusionsandrearrangements.

ICD-Ocoding

9815/3B-lymphoblasticleukaemia/lymphomawithhighhyperdiploidy

ICD-11coding

2A70.YXH24C7OtherB-lymphoblasticleukaemia/lymphomawithrecurrentgenetic

abnormalitiesB-lymphoblasticleukaemia/lymphomawithhyperdiploidy

Relatedterminology

None

Subtype(s)

None

Localization

B-ALLandB-LBLrepresentthesamedisease.B-ALLalwaysinvolvesthebonemarrowand

usuallyalsoinvolvestheperipheralblood.Extramedullaryinvolvementiscommonandisby

definitiontheprimarysiteofinvolvementinB-LBL.Fordetails,seesectionB-lymphoblastic

leukaemia/lymphoma.

Clinicalfeatures

TheclinicalfeaturesofB-ALL/LBLwithhighhyperdiploidyaresimilartothoseofothersubtypes,

exceptthatB-ALL/LBLwithhighhyperdiploidygenerallyhaslowwhitebloodcellcounts

{}.

Epidemiology

Althoughrareininfants,high-hyperdiploidB-ALL/LBLismostfrequentinchildren(25–35%of

allB-ALL/LBLcases)andscommoninadults(7–8%ofallB-ALL/LBLcases){}.

Etiology

Nouniquefeatures

Pathogenesis

Althoughpathogeneticmechanismsarepoorlyunderstood,chromosomalgainsareearly

eventsinthepathogenesisofB-ALL/LBLwithhighhyperdiploidyandarethemaindriver.

Mutationsinthereceptortyrosinekinase/RASsignallingpathway(FLT3,NRAS,KRAS,

B淋巴细胞白血病/淋巴瘤伴hhghhyped倍体

定义

具有高度超二倍性的B淋巴细胞白血病/淋巴瘤(B‑ALL/LBL)是一种由包含